tag:blogger.com,1999:blog-47785488727031587622024-03-19T05:49:35.193-07:00The Adventures of Galacto GirlJodiehttp://www.blogger.com/profile/04841239583690363022noreply@blogger.comBlogger18125tag:blogger.com,1999:blog-4778548872703158762.post-70181356211735347032023-07-10T08:13:00.001-07:002023-07-10T08:13:12.519-07:00Patient Voices in Drug Research: Our Story Featured on Patients Rising Podcast <p> <span style="border: 1pt none windowtext; font-family: Arial, sans-serif; font-size: 12pt; padding: 0in;">A few weeks ago I sat down with
co-host of </span><span style="background: white; color: #242424; font-family: Arial, sans-serif; font-size: 12pt;">Patients Rising Podcast, Bob Goldberg. I had
prepared remarks based on a list of questions, but podcasts are short and time
goes fast, so I figured I would share them in the form of a blog. The podcast
aired today so check it out: <a href="https://www.patientsrisingpodcast.org/patient-voices-in-drug-research/">https://www.patientsrisingpodcast.org/patient-voices-in-drug-research/</a></span></p><p></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEj-Iol2o9__U1946-AyLoOXCFSostsP-5SA48DX7fcz7Y02Kk1Qg2loIZukczYbAuU-w3-lrzBhBvxtztz_Sov2CZqrDcZo_Kp7i5zVl_q-EnM_HOg_-rBflkZQB3j135Q5OyGbhlDaN4JrpUVBaCAmNrF-QdIeqrnlk91VSKNBJBc4IXmXG3tB6pBt5z1z/s2048/IMG_4462.JPG" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="2048" data-original-width="1536" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEj-Iol2o9__U1946-AyLoOXCFSostsP-5SA48DX7fcz7Y02Kk1Qg2loIZukczYbAuU-w3-lrzBhBvxtztz_Sov2CZqrDcZo_Kp7i5zVl_q-EnM_HOg_-rBflkZQB3j135Q5OyGbhlDaN4JrpUVBaCAmNrF-QdIeqrnlk91VSKNBJBc4IXmXG3tB6pBt5z1z/s320/IMG_4462.JPG" width="240" /></a></div><span style="font-family: Arial, sans-serif; font-size: 12pt;">My oldest Francesca – who is
almost 9 – was diagnosed with Galactosemia at 3 days old and Amelia – who just
turned 5 – also has galactosemia. Amelia has a twin sister, Annabelle, who does
not have galactosemia.<br /></span><p></p>
<p class="MsoNormal" style="line-height: normal; margin-bottom: 0in; vertical-align: baseline;"><span style="font-family: Arial, sans-serif; font-size: 12pt;">The diagnosis was terrifying. I
mean everything is scary as a first-time mom, but add on having your child
experience all kinds of complications and setbacks and then to find out it’s
due to a rare disease that you have never heard of and there is no cure for. It
was really overwhelming.</span></p>
<p class="MsoNormal" style="line-height: normal; margin-bottom: 0in; vertical-align: baseline;"><span style="color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-fareast-font-family: "Times New Roman";"><o:p> </o:p></span><span style="font-family: Arial, sans-serif; font-size: 12pt;">There was so much information out there but a lot of it was
outdated. It was so frustrating and scary. And there was an obvious need for
more people to raise awareness and funds to support research. </span><span style="color: #212529; font-family: Arial, sans-serif; font-size: 12pt;">So, I said “well I guess I'm going to be a mom with a
cause.” So what does being a mom with a cause look like? For me currently, it means being part of the Galactosemia Foundation board, raising awareness and funds for research, and participating in the clinical trial.</span></p><blockquote style="border: none; margin: 0 0 0 40px; padding: 0px;"><blockquote style="border: none; margin: 0 0 0 40px; padding: 0px;"><blockquote style="border: none; margin: 0 0 0 40px; padding: 0px;"><blockquote style="border: none; margin: 0 0 0 40px; padding: 0px;"><blockquote style="border: none; margin: 0 0 0 40px; padding: 0px;"><blockquote style="border: none; margin: 0 0 0 40px; padding: 0px;"><blockquote style="border: none; margin: 0 0 0 40px; padding: 0px;"><blockquote style="border: none; margin: 0 0 0 40px; padding: 0px;"><p class="MsoNormal" style="line-height: normal; margin-bottom: 0in; vertical-align: baseline;"></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh-2pwqfeF4j1g0lYViVu6p3VEjhfGwEKxVj6gBlKtuJdRGCvpvS98433UGIXTbvAwDIJvpumVjwgxh-IpL_zM0jag2o5TmtdD3tRVXmrsdHH4aE9Rl-KTI9mgKY8mECJsopv1zmLg-q0duPAKUajxfjdqOeRNQUaPsYjlasaob07wwHqCaFIKWWODiLbnd/s960/amelia%20head.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em; text-align: left;"><img border="0" data-original-height="720" data-original-width="960" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh-2pwqfeF4j1g0lYViVu6p3VEjhfGwEKxVj6gBlKtuJdRGCvpvS98433UGIXTbvAwDIJvpumVjwgxh-IpL_zM0jag2o5TmtdD3tRVXmrsdHH4aE9Rl-KTI9mgKY8mECJsopv1zmLg-q0duPAKUajxfjdqOeRNQUaPsYjlasaob07wwHqCaFIKWWODiLbnd/s320/amelia%20head.jpg" width="320" /></a></div><p></p></blockquote></blockquote></blockquote></blockquote></blockquote></blockquote></blockquote></blockquote>
<p class="MsoNormal"><span style="border: none windowtext 1.0pt; color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; line-height: 107%; mso-border-alt: none windowtext 0in; mso-fareast-font-family: "Times New Roman"; padding: 0in;">For
those unfamiliar with the disease,<b> </b></span><span style="color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; line-height: 107%; mso-themecolor: text1;">Galactosemia is a rare genetic disease. It is considered an orphaned
disease which by definition is any disease that <em><b><span style="background: white; font-family: "Arial",sans-serif; font-style: normal;">affects less than
200,000 Americans. Galactosemia </span></b></em>affects only 1 in 30 – 70,000
people world-wide. <o:p></o:p></span></p>
<p class="MsoNormal"><span style="color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; line-height: 107%; mso-themecolor: text1;">People with Galactosemia
do not have the enzymes in their DNA to break </span><span style="font-family: "Arial",sans-serif; font-size: 12.0pt; line-height: 107%;">down galactose, most
commonly found in dairy. But our bodies also naturally produce galactose, at a
much higher rate. So, you and I can metabolize galactose and turn it into
glucose and energy – it fuels our body. For people with galactosemia it does
the opposite. They can’t metabolize it so instead of turning into energy it turns
into toxins. The <span style="background: white; color: #2b2c30;">buildup of toxins
can lead to long-term complications, such as cognitive and developmental delay,
memory issues, speech delays, behavioral challenges such as sensory processing
disorder, learning disorders, tremors and seizures, and more.</span><o:p></o:p></span></p>
<p class="MsoNormal" style="line-height: normal; mso-margin-bottom-alt: auto; mso-margin-top-alt: auto; vertical-align: baseline;"><b><span style="border: none windowtext 1.0pt; color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-border-alt: none windowtext 0in; mso-fareast-font-family: "Times New Roman"; padding: 0in;">A possible treatment<o:p></o:p></span></b></p>
<p class="MsoNormal" style="background: white; line-height: normal; margin-bottom: 0in; vertical-align: baseline;"><span style="border: none windowtext 1.0pt; color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-border-alt: none windowtext 0in; mso-fareast-font-family: "Times New Roman"; mso-themecolor: text1; padding: 0in;">We
started our galactosemia journey in 2014, when there was no treatment on the market
or even in the works – the only thing our girls could do was avoid consuming
galactose. When we found out there was a drug company interested in creating a
treatment, we were cautiously optimistic. For a disease that had gone so long
without a treatment, it felt too good to be true, but we had hope. And now, we
have the first possible treatment under review at the FDA and it feels like
everything we have worked for and hoped for, might be taken away. There have
been a lot of challenges dealing with the FDA including our patient input and
experiences not being considered in the review process. To be honest, maybe
they are but we would have no way of knowing because the FDA has been largely
non-responsive. We have taken advantage of every opportunity to partner with
the FDA such as focus groups, participating in an </span><span style="color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-themecolor: text1;">Externally-Led Patient-Focused Drug Development Meeting</span><span style="border: none windowtext 1.0pt; color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-border-alt: none windowtext 0in; mso-fareast-font-family: "Times New Roman"; mso-themecolor: text1; padding: 0in;">, letter writing, and requests
for meetings. But the FDA has not demonstrated meaningful engagement with
patients and caregivers, and has made decisions, such as not approving the
accelerated approval request, without communicating why or if the community
impact was considered.</span></p>
<p class="MsoNormal" style="background: white; line-height: normal; margin-bottom: 0in; vertical-align: baseline;"><span style="color: #242424; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-fareast-font-family: "Times New Roman";">In March of 2021, when
we found out the drug was not going to receive accelerated approval and our
community wrote letters, made phone calls and urged them to reconsider
accelerated approval, but we heard nothing, save for a few generic emails that
thanked us for our emails.</span></p>
<p class="MsoNormal" style="background: white; line-height: normal; margin-bottom: 0in; vertical-align: baseline;"><span style="border: none windowtext 1.0pt; color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-border-alt: none windowtext 0in; mso-fareast-font-family: "Times New Roman"; mso-themecolor: text1; padding: 0in;">It’s
been challenging and frustrating to request our community to continually
advocate, to rally their family and friends, to write letters and make calls –
without having any indication if it’s doing any good. But we continue on
because in the end, if </span><span style="border: none windowtext 1.0pt; color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-border-alt: none windowtext 0in; mso-fareast-font-family: "Times New Roman"; padding: 0in;">Govorestat</span><span style="border: none windowtext 1.0pt; color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-border-alt: none windowtext 0in; mso-fareast-font-family: "Times New Roman"; mso-themecolor: text1; padding: 0in;"> is approved, it will have been
worth it. And if it doesn’t get approved, at least we know we did everything we
could to advocate for the treatment.</span></p>
<p class="MsoNormal" style="line-height: normal; mso-margin-bottom-alt: auto; mso-margin-top-alt: auto; vertical-align: baseline;"><span style="color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-fareast-font-family: "Times New Roman";">The FDA opted to do a placebo-controlled study, which means some
of the participants would receive the study drug while the rest would receive a
“fake” medicine. But it was blinded so the participants would not know which
one they were on. We have received a lot of support from our small but mighty
community. But that’s the challenge…for any rare disease community really. The
small part. You’re already limited by the number of people who have the
condition, and then add in some who want to participate can’t – which happened
in my family. We enrolled Francesca and planned to enroll Amelia, but she was
just too small based on the parameters of the study. And then add in the
placebo component – it really limits who can participate. And it limits the
results that the study will generate. But our community understood the
importance of participating whether you were placed on the drug or the placebo.
And honestly, many of us probably didn’t know there could have been another
type of study. This was big stuff – the first possible treatment for
galactosemia and our community was willing to support, knowing that their
participation could mean big things for other people with galactosemia, even if
they didn’t benefit from receiving the medicine initially. <o:p></o:p></span></p>
<p class="MsoNormal" style="line-height: normal; mso-margin-bottom-alt: auto; mso-margin-top-alt: auto; vertical-align: baseline;"><span style="color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-fareast-font-family: "Times New Roman";"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhO2Gft2FPLjkJzSNwWZsbMiioJpakUyCelswZjrbZY2BH94HAHjl5Yhx6ucluGI609UAlfRruO0a_e-6JNSbe59lpzkp54b3sa7pL3ysrGXMnCGMsKECtAASI06Mz0lPOUd16ou6KbeiRrYK6zM6jnp2uYwGeXkZ41tOz8XKFp3tB_0UXHMfXDYkpivMqO/s2048/FJ%20Clinical%20Trial%20tear.jpeg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em; text-align: left;"><img border="0" data-original-height="2048" data-original-width="1536" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhO2Gft2FPLjkJzSNwWZsbMiioJpakUyCelswZjrbZY2BH94HAHjl5Yhx6ucluGI609UAlfRruO0a_e-6JNSbe59lpzkp54b3sa7pL3ysrGXMnCGMsKECtAASI06Mz0lPOUd16ou6KbeiRrYK6zM6jnp2uYwGeXkZ41tOz8XKFp3tB_0UXHMfXDYkpivMqO/s320/FJ%20Clinical%20Trial%20tear.jpeg" width="240" /></a></div>With that said, this clinical trial has experienced challenges.
And a lot of that has been due to changing direction from the FDA and little to
no response from community efforts to engage w<span style="font-family: Arial, sans-serif; font-size: 12pt;">ith them, which I mentioned earlier. When it
was decided the drug would not receive accelerated approval, it extended the
length of the clinical trial and made it difficult to keep families enrolled.
My daughter broke down in tears at one of our clinical trial visits and begged
me to let her quit. And I could have. That would be the easy thing to do; at
that point I was pretty confident she was on the placebo - but through my own
tears I told her that we can do hard things. I said she didn’t yet understand
the important work she was doing and how she could be helping thousands of
other people – including her sister - and I was afraid that if I let her quit,
some day she would look back and be upset that I did. Our kids have put in the
hard work, adults with galactosemia have put in the hard work, caregivers have
put in the hard work, and we just want the FDA to understand that and approve
Govorestat (AT-007).</span><p></p>
<p class="MsoNormal" style="line-height: normal; mso-margin-bottom-alt: auto; mso-margin-top-alt: auto; vertical-align: baseline;"><span style="border: none windowtext 1.0pt; color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-border-alt: none windowtext 0in; mso-fareast-font-family: "Times New Roman"; padding: 0in;">To that end, The Galactosemia Foundation has been doing a lot of
grassroots communications to the FDA and our community to rally support. We
have been posting on our social channels (<a href="https://www.facebook.com/Galactosemia.Foundation" target="_blank">Facebook</a>, <a href="https://twitter.com/GalactosemiaFDN">Twitter</a>, <a href="https://www.linkedin.com/company/galactosemia-foundation/" target="_blank">LinkedIN</a> and
<a href="https://www.instagram.com/galactosemiafoundation/" target="_blank">Instagram</a>) to help raise awareness and let the FDA know how badly our community
wants them to approve Govorestat. <o:p></o:p></span></p>
<p class="MsoNormal" style="line-height: normal; mso-margin-bottom-alt: auto; mso-margin-top-alt: auto; vertical-align: baseline;"><span style="border: none windowtext 1.0pt; color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-border-alt: none windowtext 0in; mso-fareast-font-family: "Times New Roman"; padding: 0in;">Parents are sharing stories about the improvements they have seen
in their children since starting the clinical trial. And this was before it was
unblinded – but we didn’t need it unblinded to know who had received the drug,
because some participants were seeing significant improvements and others were
either staying the same, or as in my daughter’s case, falling further behind
their peers. We have families who have seen a reduction in tremors, an increase
in cognition and memory, the development of more independent skills like
self-care. And sure enough, when the study was unblinded, they were the ones on
Govorestat. So, we are urging them to tell their story, both through the
Foundation (which we have been sharing on our social media channels) and by
calling their local Congress representatives to ask them to address patient
engagement at the FDA. <o:p></o:p></span></p>
<p class="MsoNormal" style="line-height: normal; mso-margin-bottom-alt: auto; mso-margin-top-alt: auto; vertical-align: baseline;"><span style="border: none windowtext 1.0pt; color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-border-alt: none windowtext 0in; mso-fareast-font-family: "Times New Roman"; padding: 0in;">The Foundation recently requested a face-to-face meeting with the
FDA to deliver the change.org petition and our </span><a href="https://rarediseases.org/wp-content/uploads/2023/05/Galactosemia-VOP-Report-FINAL-05.01.2023.pdf"><span style="border: none windowtext 1.0pt; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-border-alt: none windowtext 0in; mso-fareast-font-family: "Times New Roman"; padding: 0in;">Voice of the Patient report</span></a><span style="border: none windowtext 1.0pt; color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-border-alt: none windowtext 0in; mso-fareast-font-family: "Times New Roman"; padding: 0in;"> but was denied. So for now, we continue to do more of what we
have been doing. Rally our community to call their representatives and make
them aware of the situation, keep telling our story on social media and tagging
the FDA. And encouraging everyone to sign and share our </span><a href="https://www.change.org/p/pave-the-way-fda-for-the-potential-first-treatment-for-galactosemia"><span style="border: none windowtext 1.0pt; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-border-alt: none windowtext 0in; mso-fareast-font-family: "Times New Roman"; padding: 0in;">Change.org petition</span></a><span style="border: none windowtext 1.0pt; color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-border-alt: none windowtext 0in; mso-fareast-font-family: "Times New Roman"; padding: 0in;"> to help raise awareness. <o:p></o:p></span></p>
<p class="MsoNormal" style="line-height: normal; mso-margin-bottom-alt: auto; mso-margin-top-alt: auto; vertical-align: baseline;"><span style="border: none windowtext 1.0pt; color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-border-alt: none windowtext 0in; mso-fareast-font-family: "Times New Roman"; padding: 0in;">We published an </span><a href="https://galactosemia.org/stay-informed/advocating-for-a-treatment/"><span style="border: none windowtext 1.0pt; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-border-alt: none windowtext 0in; mso-fareast-font-family: "Times New Roman"; padding: 0in;">Advocating for a Treatment page</span></a><span style="border: none windowtext 1.0pt; color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-border-alt: none windowtext 0in; mso-fareast-font-family: "Times New Roman"; padding: 0in;"> on our </span><a href="https://galactosemia.org/stay-informed/advocating-for-a-treatment/"><span style="border: none windowtext 1.0pt; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-border-alt: none windowtext 0in; mso-fareast-font-family: "Times New Roman"; padding: 0in;">Galactosemia Foundation website</span></a><span style="border: none windowtext 1.0pt; color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-border-alt: none windowtext 0in; mso-fareast-font-family: "Times New Roman"; padding: 0in;"> which has all the ways our community, family and friends – and
anyone who is interested in rare disease and supporting our cause – can help. The
website has a link to the petition to sign and share, a powerful video from our
community talking about the need for treatment, information for finding your
member of Congress and other articles and tips for sharing personal stories. We
will keep moving forward, in hopes that our community will soon receive the
first-ever treatment for Galactosemia. </span><span style="color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-fareast-font-family: "Times New Roman";"><o:p></o:p></span></p>
<p><span style="border: none windowtext 1.0pt; color: black; font-family: "Arial",sans-serif; mso-border-alt: none windowtext 0in; padding: 0in;">When I think about other rare
communities going through similar struggles now or in the future, it makes me
sad. Navigating a rare disease is hard enough without spending countless hours and
resources communicating our story and asking the FDA to respond to us and
approve a drug that has shown to be effective and safe. </span><span style="color: #242424; font-family: "Arial",sans-serif;">There is a rare disease
division of the FDA for conditions and situations like galactosemia, and we are
not being communicated with at all, despite the fact that the director of the
rare diseases division Kathleen Donohue, was quoted on a podcast saying, “</span><span style="color: black; font-family: "Arial",sans-serif;">Patients’ voices really do
matter…At the end of the day, we work for patients and we want these treatments
to make a difference for patients and to treat what matters for patients.” <o:p></o:p></span></p><p></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiijx3VH3hlb1dIOioFI2XOvSwrv0ri6miy8DVVrzB5m1KVlvaH9FXWCeQqja23kcd6hGqdnr1O0-fNhttRTezldhKtIwKr5DZdYGpYEq7EpUpbkNV6Zd-GBMzR3K3fyU5WQM2IRWoqpsw-l2SwizvXXEXNzqlKxJALs7aROTUZnPq93Ls3mPxVXLJ6Dymv/s1280/Jodie1%20(2).PNG" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="720" data-original-width="1280" height="241" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiijx3VH3hlb1dIOioFI2XOvSwrv0ri6miy8DVVrzB5m1KVlvaH9FXWCeQqja23kcd6hGqdnr1O0-fNhttRTezldhKtIwKr5DZdYGpYEq7EpUpbkNV6Zd-GBMzR3K3fyU5WQM2IRWoqpsw-l2SwizvXXEXNzqlKxJALs7aROTUZnPq93Ls3mPxVXLJ6Dymv/w430-h241/Jodie1%20(2).PNG" width="430" /></a></div><p></p>
<p class="MsoNormal" style="background: white; line-height: normal; margin-bottom: 0in; vertical-align: baseline;"><span style="color: #242424; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-fareast-font-family: "Times New Roman";">We continue to try to
engage with them, to seek to understand why decisions are being made and we are
met with silence.</span><span style="border: none windowtext 1.0pt; color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-border-alt: none windowtext 0in; mso-fareast-font-family: "Times New Roman"; mso-themecolor: text1; padding: 0in;"> </span><span style="color: #242424; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-fareast-font-family: "Times New Roman";">I understand they have a job to do, but as
mothers fighting for our kids, as a non-profit board fighting for our
galactosemia community and as a supporter for rare disease communities as a
whole, we also have a job to do. And we will keep advocating for our community.
I think we want what everyone wants in most situations – to be heard, to be
taken seriously and to know our community is valued. But instead, we just feel
ignored. I hope the work we’re doing makes the road a little easier for other
rare diseases in the same situation. </span><span style="border: none windowtext 1.0pt; color: black; font-family: "Arial",sans-serif; font-size: 12.0pt; mso-border-alt: none windowtext 0in; mso-fareast-font-family: "Times New Roman"; mso-themecolor: text1; padding: 0in;"><o:p></o:p></span></p>Jodiehttp://www.blogger.com/profile/04841239583690363022noreply@blogger.com0tag:blogger.com,1999:blog-4778548872703158762.post-33695450332208460622023-04-28T08:58:00.004-07:002023-04-29T08:06:54.347-07:00Hey FDA! Our galactosemia community is small but resilient (and loud) - and we deserve a treatment!The day Francesca was diagnosed with galactosemia - a disease we had never heard of and could barely pronounce - we knew the possible long-term complications. But unlike many of our friends in the galactosemia community, the galacto girls were largely unaffected. No speech delays, no apraxia, no fine motor skill issues, tremors or seizures. Yet. But we knew the reality. They would likely somehow be impacted. We just didn't know when, or how severely. We would leave each specialist appointment with glowing reports of no concerns, but also with words of caution that many of the delays don't show up until elementary school age. That's when the math and reading challenges will be more noticeable. And then of course we heard the stories of Primary Ovarian Insufficiency (POI) that will likely make having families difficult, if not impossible for them. <div><br /></div><div>Still largely unaffected - when a clinical trial started for the first ever possible treatment of galactosemia<div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiTESTaLWzmwbi1boVv34OFQRgAGkHRiA5sF9kij_lhFdZUV2dk_CtUsEguBu056HOXMn15jiCfE31Qjc5TsRdWvfgHEyyEUCEGVMLCTWqAZIDPD78h_HD5-sUk9-q2DDgWcU-Zd3zcW-e3dXOWuPhTjN-WjJeUOfK9fCYLnDzwki5wyZV69Xszd_5pgA/s2048/IMG_4343.JPG" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="2048" data-original-width="1536" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiTESTaLWzmwbi1boVv34OFQRgAGkHRiA5sF9kij_lhFdZUV2dk_CtUsEguBu056HOXMn15jiCfE31Qjc5TsRdWvfgHEyyEUCEGVMLCTWqAZIDPD78h_HD5-sUk9-q2DDgWcU-Zd3zcW-e3dXOWuPhTjN-WjJeUOfK9fCYLnDzwki5wyZV69Xszd_5pgA/s320/IMG_4343.JPG" width="240" /></a></div>- we didn't immediately get involved. But when you're a rare disease - every participant makes a difference. So when they announced a clinical trial site was opening up 45 minutes away for us, we enrolled Francesca (actually we enrolled both galacto girls, but because of Amelia's small size and low BMI she wasn't eligible to participate.) So we enrolled in the clinical trial for what we thought would be a year - until Applied Therapeutics could provide data showing a reduction of galactitol in the study participants while proving the drug was safe. </div><div><br /></div><div>Read about the start of the clinical trial:</div><div><br /></div><div><a href="https://galactosemiagirl.blogspot.com/2021/07/the-galacto-girls-join-clinical-trial.html">https://galactosemiagirl.blogspot.com/2021/07/the-galacto-girls-join-clinical-trial.html</a></div><div><br /></div><div><a href="https://galactosemiagirl.blogspot.com/2021/07/francesca-starts-clinical-trial.html">https://galactosemiagirl.blogspot.com/2021/07/francesca-starts-clinical-trial.html</a></div><div><br /></div><div><br /></div><div>During the clinical trial there was a change in leadership in the rare disease division of the FDA. And with new leaders, come new rules. The accelerated approval option Applied Therapeutics was told they would likely have was taken off the table. Suddenly, showing the galactitol reduction wasn't enough. And our hopes of a treatment slowly started to fade. You see, getting a drug through a clinical trial and approved to market can take years. Ultimately you need to prove the drug is safe and it works. But that gets a lot more complicated when a rare disease is involved. First, you don't have a big candidate pool to recruit from for the trial, then some who want to participate aren't eligible (like in Amelia's case) and you add in having some of the study participants on placebo...it makes proving the drug works (by reaching statistical significance as determined by the FDA) extremely difficult. <br /></div><div><br /></div><div><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgygam5vYRYtJg3mTsI5GgSjhhROUbdZNVO0Ms4IZu82u5b0ltD07-2ixooGYGN63aXD_St0UNJLRdte2e9f_5_ogy-o0wiFlmAXnpoDW2dm3zECBJakNNhDvCgGyUWhaHuMExZMlQWvdhM7IdUQ0t7nFItAjbX-yp5aGy9KsBwkztLGC4nIWr3rfYZrw/s668/FJ%20research%20entrance.jpg" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="668" data-original-width="501" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgygam5vYRYtJg3mTsI5GgSjhhROUbdZNVO0Ms4IZu82u5b0ltD07-2ixooGYGN63aXD_St0UNJLRdte2e9f_5_ogy-o0wiFlmAXnpoDW2dm3zECBJakNNhDvCgGyUWhaHuMExZMlQWvdhM7IdUQ0t7nFItAjbX-yp5aGy9KsBwkztLGC4nIWr3rfYZrw/s320/FJ%20research%20entrance.jpg" width="240" /></a></div>About a year ago, when what Applied Therapeutics would have to prove and deliver changed, the Galactosemia Foundation rallied our community, upped our advocacy game and made sure the FDA knew why we needed a treatment. We understood that while there wasn't yet enough data to show this medicine would work, we knew it was safe. And we knew it was reducing galactitol. And that was enough. We knew it was better for our kids to be receiving it, while data was gathered to prove that it worked, then wait until statistical significance was reached. So we wrote letters to the FDA, we contacted our legislatures via email and left voicemails. We got automated and short replies back from the FDA - we were told we had been heard. But that was it. And we saw no movement from it. </div><div><br /></div><div>Read my blog from last year about our advocacy efforts:<br /><a href="https://galactosemiagirl.blogspot.com/2022/02/the-clinical-trial-fda-congress-and.html">https://galactosemiagirl.blogspot.com/2022/02/the-clinical-trial-fda-congress-and.html</a></div><div><br /></div><div>Earlier this week Applied Therapeutics announced its 18 month data. The evidence is compelling - there were notable gains made in the kids who were on drug - but it fell just short of being statistically significant. </div><div><br /></div><div>According to Applied Therapeutics data showed the Govorestat treatment improved life skills, behavior, cognition, fine motor skills, adaptive skills and tremor vs. placebo. The one place statistical significance was not seen (put had positive trending) was speech. While we don't know for sure, it could possibly be because speech therapy is an existing effective treatment and many kids are already receiving this treatment (including those on placebo). So when they combined all the data at the end (with three out of four criteria meeting the statistical significance.) The final number fell short and did not meet statistical significance. </div><div><br /></div><div>And while I understand the need to have a number to reach, something to measure success by - not everything is about the numbers. While the FDA might not have found the results statistically significant, ask the mom who has seen a reduction of tremors in her child since starting the clinical trial, ask the dad whose child can remember and comprehend things better, who is making friends easier and regulating better. Families are seeing positive changes since being in the clinical trial. And the thought of this drug not getting approved because it fell just short of the required statistical significance when families have real life evidence that it is working and is safe, is heartbreaking. Numbers are important. They aren't everything. And we need the FDA to know that the evidence is compelling and it matters and we need them to approve the drug as soon as possible. I'll make a quick side note here - the study hasn't been unblinded yet - so as I write this, we are assuming the families who are seeing improvements are on drug. As for us, I am about 99% sure Francesca is on a placebo, which is important to know for the next part.</div><div><br /></div><div><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEitx344wNijBnrwvd7KF5TJQgRV9-VF6yaffcXFlLwjn1LIZ86WGqZOj5OnlVz0LNQe0452eqQYOFZlJV324wqXjC9vAMEmGgzoz-DknQaIOPc93cOwyBNB37nHMB7SyEKJty7N2dyeq_ZUXgQE-90NL0PUrjwFENGrvzGZNH0jts6nFnPIpfh8YFWt_w/s1536/Day%203.jpg" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="1536" data-original-width="1536" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEitx344wNijBnrwvd7KF5TJQgRV9-VF6yaffcXFlLwjn1LIZ86WGqZOj5OnlVz0LNQe0452eqQYOFZlJV324wqXjC9vAMEmGgzoz-DknQaIOPc93cOwyBNB37nHMB7SyEKJty7N2dyeq_ZUXgQE-90NL0PUrjwFENGrvzGZNH0jts6nFnPIpfh8YFWt_w/s320/Day%203.jpg" width="320" /></a></div>And then there is our story. . Earlier this week, I sat in a room next to my husband and surrounded by a<br /> group of educators trying to figure out how to best keep Francesca from falling even further behind in math and reading. We knew last year she was a little behind, but it was hard to know if it was a complication from her galactosemia or the result of the pandemic and the online school, etc. But this year she continued to fall behind her peers. Thankfully there was a tutoring opportunity available and she's been receiving reading and math tutoring two days a week for the last few month. And while we are seeing some improvement in reading - she isn't making progress in math. My standard joke of "she has two journalism major parents, she'll need a math tutor anyway" isn't funny anymore. She is struggling. And as I sat around the table with her principal, a psychologist, a social worker, her teacher and another support staff member I realized how lucky we are to be in a school district that is proactive and set up to help struggling kids. I have a feeling not everyone is that lucky. This wasn't a meeting I requested. Her teacher saw a struggling kid and did everything she could to make this meeting happen. She even said in the meeting that it is heartbreaking to see how hard Francesca tries. And always with a smile and a great attitude. But she's just not retaining the information. She's not making progress. And I heard the words from a fellow galacto mom in my head "Jodie, she needs to get on the drug...I feel like you would see big changes." And my eyes filled up with tears. I have a kid who is struggling and many resources to help her - but they aren't working. And there is a drug that is proving successful for many families. But it may not get approved because it didn't reach statistical significance in 1 area. </div><div><br /></div><div>So what's next? The study should be unblinded soon and if Francesca was on placebo we will be able to switch her to active drug. We will need to make a trip to Ann Arbor for this and then she'll have monitoring (blood draws) for a while after she starts. There are some known rare side effects so she will be monitored for the first few months to make sure she doesn't experience them. </div><div><br /></div><div><div class="separator" style="clear: both; text-align: right;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgon0sQZlxoBa8TCjChmJzYp5iRHDjiK6CF7omW3DS-HxiauKDqugkl-z1RF3D_nN6jYKMZWP_LxfXZsuiSY-979I6o56edP4Kb63Ab473j6u3V9ZGqunE7c2k_X9pCfqmPS63Gf9x4n-4kmBR7aWhiTJBLyffWVFdhDoLkBlfxlQtrtRiHTGHd2QDs5w/s2016/solari%20sisters.jpg" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="2016" data-original-width="1512" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgon0sQZlxoBa8TCjChmJzYp5iRHDjiK6CF7omW3DS-HxiauKDqugkl-z1RF3D_nN6jYKMZWP_LxfXZsuiSY-979I6o56edP4Kb63Ab473j6u3V9ZGqunE7c2k_X9pCfqmPS63Gf9x4n-4kmBR7aWhiTJBLyffWVFdhDoLkBlfxlQtrtRiHTGHd2QDs5w/s320/solari%20sisters.jpg" width="240" /></a></div>Applied Therapeutics will be requesting a meeting with the FDA in the next 30 days to discuss the results and why the drug should be approved. In the meantime, the Galactosemia Foundation is setting up a communications push to rally our community, family and friends to help us communicate the need for a drug and urge the FDA to carefully consider galactosemia patient and caregiver experiences during their review of this potential treatment. The numbers are compelling but the real life stories are more important. Every day our kids don't have a treatment is another day damage is being done to their bodies. We need the FDA to see it from our perspective. The data might not seem significant to them, but it has been life-changing to some of the families who are participating in the clinical trial. We need these kids to continue to receive this medicine. And we need it available to all those living with galactosemia. </div><div><br /></div><div>In the coming days and weeks the Galactosemia Foundation will be creating resources and putting them on our website to help our community, family and friends come alongside us in advocating for the approval of the medicine. I'll be posting on our <a href="https://www.facebook.com/AdventuresofGalactoGirl" target="_blank">Adventures of Galacto Girls Facebook page </a>when these items are available with specific ways you can help. </div><div><br /></div><div>Here is the <a href="https://galactosemia.org/2023/04/26/galactosemia-foundation-urges-fda-to-incorporate-voice-of-the-patient-in-review-of-potential-first-treatment-for-children-with-life-altering-rare-disease/" target="_blank">Galactosemia Foundation press release</a> calling for the FDA to take the patient voice into account.</div><div><br /></div><div>Here is <a href="https://galactosemia.org/2023/04/24/applied-pressure-after-regulatory-redirect-mixed-trial-results-pose-challenges-for-drugmaker-and-patient-group/" target="_blank">an article</a> our VP Brittany Cudzilo was part of talking about the challenges we're facing. </div><br /><div><br /></div><div><br /></div><div><br /></div><div><br /></div><div><br /></div><div><br /></div><div><br /></div><div><br /></div>Jodiehttp://www.blogger.com/profile/04841239583690363022noreply@blogger.com0tag:blogger.com,1999:blog-4778548872703158762.post-57149461840009471382023-03-06T12:55:00.004-08:002023-03-06T12:55:23.157-08:002023 Glow for Galactosemia: Glow Bowl <p><span style="font-family: arial;">Our first year participating in GLOW for Galactosemia was in 2020 and we had a "move" event at our church. Shortly after the world shut down due to COVID. The next two years we would do small family and friend walks (in freezing cold snow and rainy conditions). This year, with the COVID situation improving we decided to return to an in person event. I didn't have a lot of expectations, I was just excited to be together (and out of the freezing cold) and raising money for a good cause. </span></p><p><span style="font-family: arial;">The event was yesterday and it completely exceeded all expectations. The love and support was overwhelming (as those in person can attest since I couldn't get through my opening remarks without crying multiple times.) The rest of this blog will be my remarks so those who were virtual or couldn't attend can see them and hopefully feel my love and gratitude. </span></p><p></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgLTNUIGe9CYWnBkqvbRGmkAC2lGaAD1qXK_J_ddKXGuVfiGoeJwn2EUYNegDSF5Fh4AmNZj0eCrYTSg2sK0hC_oFYEkS-6K79e6PP5G-gzo6ITTzsGeN_VQJH2t10cFGOHPghPJXfSwntqt0kn_jgiMy6U1Nj3N6Zc8X-bEt9i976JAsXYTe8eGUDxsw/s2016/Galactosemia%20Family%20pic.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1512" data-original-width="2016" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgLTNUIGe9CYWnBkqvbRGmkAC2lGaAD1qXK_J_ddKXGuVfiGoeJwn2EUYNegDSF5Fh4AmNZj0eCrYTSg2sK0hC_oFYEkS-6K79e6PP5G-gzo6ITTzsGeN_VQJH2t10cFGOHPghPJXfSwntqt0kn_jgiMy6U1Nj3N6Zc8X-bEt9i976JAsXYTe8eGUDxsw/s320/Galactosemia%20Family%20pic.jpg" width="320" /></a></div><br /><span style="font-family: arial;"><br /></span><p></p><p><span style="font-family: arial;">But first, some quick stats. </span></p><p></p><ul style="text-align: left;"><li><span style="font-family: arial;">6 kids with galactosemia present (four families from across Michigan, in addition to us)</span></li><li><span style="font-family: arial;">83 total registered</span></li><li><span style="font-family: arial;">71 attendees</span></li><li><span style="font-family: arial;">62 bowlers</span></li></ul><div><span style="font-family: arial;">In addition to the money raised through the RunSignup registrations, we raised:</span></div><div><ul style="text-align: left;"><li><span style="font-family: arial;">$950 from silent auction</span></li><li><span style="font-family: arial;">$1,750 from check donations</span></li><li><span style="font-family: arial;">$455 from additional donations on RunSignup</span></li><li><span style="font-family: arial;">$140 from Venmo donations</span></li><li><span style="font-family: arial;">$380 cash donations at event </span></li></ul></div><p></p><p><span style="font-family: arial;">I also had a Galactosemia 101 presentation available at the event to provide general information for some of our newer supporters. <a href="https://docs.google.com/presentation/d/1TOMz93Yf9jHXfNGjncLDg_jnUkiR96We/edit?usp=sharing&ouid=103815940820899354130&rtpof=true&sd=true" target="_blank">It's available for review here</a>.</span></p><p><span style="font-family: arial;">As always, you can follow our journey on our blog (if you're reading this - you found it!) Facebook https://www.facebook.com/AdventuresofGalactoGirl<br />Instagram galacto_girls</span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEisKQEX-6nVEvVm-5F15wxeyZ5ef_TipvXC1So0TLBYeRyzgs9DP4KfGrA4hvoSfe50cl8xgTyDNageez9r8vWNaMp88uitYLPCIS4tp-klrk6oP-8uuG4lwMBkEYe2AlqkfcO6M3Dp6xQOoeXC6djgtjQsSxhyH8239xOSDogDlqAK57Px9pW6YXP1Bw/s2016/bowling.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1512" data-original-width="2016" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEisKQEX-6nVEvVm-5F15wxeyZ5ef_TipvXC1So0TLBYeRyzgs9DP4KfGrA4hvoSfe50cl8xgTyDNageez9r8vWNaMp88uitYLPCIS4tp-klrk6oP-8uuG4lwMBkEYe2AlqkfcO6M3Dp6xQOoeXC6djgtjQsSxhyH8239xOSDogDlqAK57Px9pW6YXP1Bw/s320/bowling.jpg" width="320" /></a></div><br /><p><br /></p><p class="MsoNormal"><span style="line-height: 107%;"><span style="font-family: arial;">GLOW BOWL for Galactosemia 2023<o:p></o:p></span></span></p><p class="MsoNormal"><span style="line-height: 107%;"><span style="font-family: arial;">Hello! Welcome! Let’s get this party
started. <o:p></o:p></span></span></p><p class="MsoNormal"><span style="line-height: 107%;"><span style="font-family: arial;">First, I’ll just say its so great to
be together in person to raise awareness about and funds for Galactosemia. And
to celebrate our Galacto Kids – I know, that’s a deviation from my usual
“Galacto Girl” phrase but we have 4 other people here today with Galactosemia,
so I want to give a quick welcome and shout out to those families.<o:p></o:p></span></span></p><p class="MsoNormal"><span style="line-height: 107%;"><span style="font-family: arial;">Reid (3) <o:p></o:p></span></span></p><p class="MsoNormal"><span style="line-height: 107%;"><span style="font-family: arial;">Kendall (2 ½) <o:p></o:p></span></span></p><p class="MsoNormal"><span style="line-height: 107%;"><span style="font-family: arial;">Stella (2) <o:p></o:p></span></span></p><p class="MsoNormal"><span style="line-height: 107%;"><span style="font-family: arial;">Theo (10 mo)<o:p></o:p></span></span></p><p class="MsoNormal"><span style="line-height: 107%;"><span style="font-family: arial;">Thank you all for being here! <o:p></o:p></span></span></p><p class="MsoNormal"><span style="line-height: 107%;"><span style="font-family: arial;">Next a quick reminder why we GLOW. Our
fundraiser is a virtual component of the 5K that takes place in Knoxville. The
fundraiser raises money for the Galactosemia Foundation – a non-profit
organization – that was founded in 1985. The galactosemia foundation’s two-part
mission is to educate, support and provide advocacy for those affected by
galactosemia and to network with clinicians and researchers to inspire
treatment and advance research. <o:p></o:p></span></span></p><p class="MsoNormal"><span style="line-height: 107%;"><span style="font-family: arial;">Because Galactosemia is considered a
rare disease – so rare it is referred to as an “orphan” disease - it doesn’t
get support and funding that other diseases receive. Thankfully we have a small
group of doctors and scientists who have taken an interest in galactosemia and
are actively doing research. But research takes money. <o:p></o:p></span></span></p><p class="MsoNormal"><span style="line-height: 107%;"><span style="font-family: arial;"></span></span></p><div class="separator" style="clear: both; text-align: center;"><span style="font-family: arial;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg7j3qrvnVEgrb-Q-YZy2_a3XzDpIPzPGIGzyxWdSlO96sE3vgzpxfS3MGUCwJIDPBB69xTcHjycBR1eApicB1Z6LwoUQKZZ7ZakUTTPoSSSsVzm3BaFUwgGox4ynnI5SXuPxuHckObZ_Vi1ITElr6iTW_pX6SyLm_DRu-Mt2t2shY1bNZsH5Lij8CKyg/s2016/solari%20sisters.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="2016" data-original-width="1512" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg7j3qrvnVEgrb-Q-YZy2_a3XzDpIPzPGIGzyxWdSlO96sE3vgzpxfS3MGUCwJIDPBB69xTcHjycBR1eApicB1Z6LwoUQKZZ7ZakUTTPoSSSsVzm3BaFUwgGox4ynnI5SXuPxuHckObZ_Vi1ITElr6iTW_pX6SyLm_DRu-Mt2t2shY1bNZsH5Lij8CKyg/s320/solari%20sisters.jpg" width="240" /></a></span></div><span style="font-family: arial;">Enter the Galactosemia Foundation
which is run by a board of volunteers – like me – who have been impacted by the
disease. As many know, I am on the Galactosemia Foundation board as the
Media/Communications chair and produce our bi-annual newsletter, website (go
check it out – <a href="https://galactosemia.org/" target="_blank">galactosemia.org</a>) and our social media channels (follow us on
Facebook, Instagram and Twitter). <o:p></o:p></span><p></p><p class="MsoNormal"><span style="line-height: 107%;"><span style="font-family: arial;">Anyway – The Foundation has a research
grant program. Since its inception, the Foundation has awarded <span style="background: white; color: #1f2f34;">over $930,000 to scientists and doctors
doing galactosemia-related research. In 2021 alone, they awarded over $170,000.
And that money is raised by events just like this. Research that could one day
lead to a cure is made possible by your generosity. You are making a
significant difference by participating in GLOW. Thank you. </span><o:p></o:p></span></span></p><p class="MsoNormal"><span style="line-height: 107%;"><span style="font-family: arial;">One last quick update – the clinical
trial. I know many have been following our journey on Facebook/the blog but we
are fresh off two days in Ann Arbor for 18 month testing since Francesca
started the clinical trial. It has not been easy. But I keep reminding her that
she’s doing important work. <o:p></o:p></span></span></p><p class="MsoNormal"><span style="font-family: arial;"><span style="background: white; color: #050505; line-height: 107%;">Honestly,
we thought the trial would be over by now, but here we are. I have a blog that
goes over all the details that you can read, which I posted last February about
some speed bumps with the FDA. More to come, but we are expecting Applied
Therapeutics to submit the data to the FDA soon – at which point the study will
be unblinded and we’ll find out if Francesca is on drug or Placebo. </span><span style="line-height: 107%;"><o:p></o:p></span></span></p><p class="MsoNormal"><span style="line-height: 107%;"><span style="font-family: arial;">Okay, before I wrap things up, I want
to say a huge thank you to everyone who made today possible. For those here in
the room and our virtual friends who are participating elsewhere today. <o:p></o:p></span></span></p><p class="MsoNormal"><span style="line-height: 107%;"><span style="font-family: arial;">Thank you to City Limits Bowling alley
(and one Mr. Greg Orlando) who offered us a deep discount to make today
possible. They also donated the beverages for the event and two bowling packages
for the silent auction. They also allowed us to bring in our own safe snacks
for the event. <o:p></o:p></span></span></p><p class="MsoNormal"><span style="line-height: 107%;"><span style="font-family: arial;">Thank you to “On Pointe Photos and
Events” for donating the photo booth for today. <o:p></o:p></span></span></p><p class="MsoNormal"><span style="line-height: 107%;"><span style="font-family: arial;">Thank you to everyone who donated
items for the silent auction – I won’t go through them all, but I encourage
everyone to check them out and bid on a prize to take home today.<o:p></o:p></span></span></p><p class="MsoNormal"><span style="line-height: 107%;"><span style="font-family: arial;">My thanks will never be enough, but it
is all I have, so thank you for being here today, thank you for supporting and
loving our family and thank you for your generous money and time donations to
support the Galactosemia Foundation, our Galacto Girls and our entire
galactosemia community. <o:p></o:p></span></span></p><p>
</p><p class="MsoNormal"><span style="line-height: 107%;"><span style="font-family: arial;">Okay – it’s time to bowl! Go check out
and bid on the silent auction items. We also have some flyers about
Galactosemia and a 101 presentation that helps explain some of the highlights
for those who are new to the disease and our journey. Help yourselves to some
dairy free snacks. The restaurant is open so if you’re hungry for more, feel
free to make individual orders. Thanks for Glowing with us today. Let’s bowl! </span><o:p></o:p></span></p><br /><p><br /></p><p><br /></p>Jodiehttp://www.blogger.com/profile/04841239583690363022noreply@blogger.com0tag:blogger.com,1999:blog-4778548872703158762.post-69912983072194233772022-02-06T19:41:00.007-08:002023-04-27T18:49:35.903-07:00The Clinical Trial, The FDA, Congress and an important revelation <p><span style="background-color: white; color: #050505; white-space: pre-wrap;"><span style="font-family: arial; font-size: medium;">I have been posting the last couple weeks on social media about the clinical trial, the FDA and congress. It probably seemed confusing and lacked background because there wasn't a lot of time to explain, I just needed to act. It was an exhausting couple of weeks between trying to advocate for my Galacto Girls while being down with COVID and navigating everything else in life. If I'm being honest, my mental health took a hit and it almost brought me to my knees at church this morning - but more about that later. </span></span></p><div class="cxmmr5t8 oygrvhab hcukyx3x c1et5uql o9v6fnle ii04i59q" style="background-color: white; margin: 0.5em 0px 0px; overflow-wrap: break-word;"><div dir="auto"><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;">First - I'll give some background. Here is a Facebook post I made on Jan. 31.</span></div><div dir="auto"><span style="font-family: arial; font-size: medium;"><span style="color: #050505; white-space: pre-wrap;">
<i>Most of you know I was down with COVID last week - but I couldn’t be completely down because well, kids…but more importantly I had to fight for my rare disease kiddos and their chance at a possible treatment. So, between naps and headaches and coughing spells I recorded a plea for the FDA and shared my story. I wrote and sent off emails to individuals at the FDA and after returning to work spent my lunch hours emailing and leaving voicemails with my local legislators sharing our story and asking them to fight for us.
<br /></i></span></span><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/a/AVvXsEhfI2GPMEOak3gvm80D_aV3w9ScuqofxTnkmcyVesXo-Wl9-tiWKBS23rwcSCGbYr6fE2ObV0r5EKK95cUkJeOOeLxkZnXYnzP7iZI0OnBrHMgmvr5LBFos0S1HOPFyS29RX7_T3h6EvEihT1kn2yAdjpGNDTV0xuO25pdyjT9hfci_z-9bLCmIRUT5mw=s960" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="960" data-original-width="954" height="320" src="https://blogger.googleusercontent.com/img/a/AVvXsEhfI2GPMEOak3gvm80D_aV3w9ScuqofxTnkmcyVesXo-Wl9-tiWKBS23rwcSCGbYr6fE2ObV0r5EKK95cUkJeOOeLxkZnXYnzP7iZI0OnBrHMgmvr5LBFos0S1HOPFyS29RX7_T3h6EvEihT1kn2yAdjpGNDTV0xuO25pdyjT9hfci_z-9bLCmIRUT5mw=s320" width="318" /></a></div></div><div dir="auto"><span style="font-family: arial; font-size: medium;"><span style="color: #050505; white-space: pre-wrap;"><i>I’ve also been busy working with my amazing fellow Galactosemia Foundation board members to put out a press release with a statement and call to action from the foundation.
<br /></i></span></span></div><div dir="auto"><span style="font-family: arial; font-size: medium;"><span style="color: #050505; white-space: pre-wrap;"><i>Ultimately, I don’t know if what we’ve done is enough. I don’t know if our stories will make a difference when they meet this week, but I know our small but mighty rare disease community showed up and did everything we could to be heard - and we will continue to fight. Our kids deserve nothing less. </i></span><i style="color: #050505; white-space: pre-wrap;">And here is my shameless plug to register for our Glow for Galactosemia event. This is how we raise funds. This is how we raise awareness about our ultra-rare disease. This is how we fight.</i></span></div><div dir="auto"><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;"><br /></span></div><div dir="auto"><span style="font-family: arial; font-size: medium;"><span style="color: #050505; white-space: pre-wrap;">So, let me give some background to set the scene for all of this. </span></span></div><div dir="auto"><span style="font-family: arial; font-size: medium;"><span style="color: #050505; white-space: pre-wrap;"><br /></span></span></div><div dir="auto"><span style="font-family: arial; font-size: medium;"><span style="color: #050505; white-space: pre-wrap;">When Applied Therapeutics (AT) started the clinical trial that Francesca is enrolled in, they were working closely with the FDA to make sure it would be part of the accelerated approval program. This program is really our only shot at getting a medicine available for an ultra-rare disease like galactosemia. I'm sure I'm oversimplifying but in most cases, to get a drug approved by the FDA - not only do you need to prove it is safe but you also need to prove that it works. With a disease that impacts millions of people, it isn't hard to enroll candidates in the clinical trial and prove its effectiveness. But for a disease like galactosemia that only impacts 30,000-70,000... that is much harder to do. Not only do you not have a lot of people eligible for the clinical trial - but it will take much longer to reach statistical significance with data to prove that it works. So, the trial started with the understanding that the FDA would approve the drug once it was proved safe, based on biomarker data - or data that showed it was making the expected change for those who were on the drug in this study - in our case it is showing that galactitol (the thing they believe is responsible for many of the complications) is reduced. And Applied Therapeutics has proved that - those on the trial are experiencing a reduction of galactitol. But for reasons we don't quite understand, the FDA is now saying that isn't enough and AT would likely need to show long-term outcomes for it to be approved. Again, because we are a rare disease - because it is a small clinical trial - it will likely take years to prove that it is making a difference. No company is going to have the money or time to invest in such an effort. It was a miracle that a company even took notice of galactosemia in the first place and last week we watched the chance for a treatment start slipping away - without a good explanation of why. </span></span></div><div dir="auto"><span style="color: #050505; white-space: pre-wrap;"><span style="font-family: arial; font-size: medium;"><br /></span></span></div><div dir="auto"><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/a/AVvXsEh5JcNQeufX-iJ9gU92HuNrX2orTOaqdefLVVOlTesD7FJlR6W6fakmswXjW-wsVAKAjZ7srUKSNPK_UAszC3jjUzpQmZnsLq1O6j2zLnB_GBFVL59n8U8z1ExUmyuJo48ArcmymuOYbc73isSvaGxxxnriPfNINizV_RTyxoFdWNmt0L0NvtTqVVQpTw=s2048" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="2048" data-original-width="1536" height="320" src="https://blogger.googleusercontent.com/img/a/AVvXsEh5JcNQeufX-iJ9gU92HuNrX2orTOaqdefLVVOlTesD7FJlR6W6fakmswXjW-wsVAKAjZ7srUKSNPK_UAszC3jjUzpQmZnsLq1O6j2zLnB_GBFVL59n8U8z1ExUmyuJo48ArcmymuOYbc73isSvaGxxxnriPfNINizV_RTyxoFdWNmt0L0NvtTqVVQpTw=s320" width="240" /></a></div><span style="color: #050505; white-space: pre-wrap;"><span style="font-family: arial; font-size: medium;">Oh well, better luck next time, right? WRONG. Enter a group of amazing and determined mamas with a cause. Two weeks ago, we started a grassroots effort to rally support from the families involved in the clinical trial. We all wrote emails to the FDA - introducing our children, explaining what life with this disease looks like, imploring them not to give up on our rare disease. One of the mom's created a moving video from her story and included pictures of our kiddos. (You can watch it here: <a href="https://youtu.be/tAP1-kQmags" target="_blank">https://youtu.be/tAP1-kQmags</a>). </span></span></div><div dir="auto"><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;"><br /></span></div><div dir="auto"><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;">Meanwhile, the Galactosemia Foundation was working on the issue from several different angles and with the help of many partners. But we knew the importance of parents reaching out with their personal stories. Then on Jan. 25, we found out that the Congress Health subcommittee was meeting with the FDA on Feb. 3, so our focus shifted. We went from contacting the FDA (who we knew had heard us at this point from returned phone calls and email replies), to contacting our local representatives, specifically those who are on rare disease caucus. We wanted to make sure when they met with the FDA on Thursday, they had heard the word "galactosemia" and our kids' stories. I don't even remember who I left voicemails with and who I sent emails to but I did reach out to my representative (Elissa Slotkin) and then to Congressman Upton, who I knew was going to be at the meeting. This was my email:
<br /></span></div><div dir="auto"><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;"><i>Dear Congressman Upton,
I sent this email to Elissa Slotkin, as she is my representative, but wanted to share with you as well since I know you are part of the Rare Disease Caucus.<br /></i><i>My name is Jodie Solari and I have two daughters with a rare disease called Galactosemia. This progressive disease can cause a host of complications including cataracts, cognitive challenges and learning disabilities, speech disorders, neurological/motor impairments, primary ovarian insufficiency and growth delay.</i><i>
</i></span></div><div dir="auto"><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;"><i><br /></i></span></div><div dir="auto"><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;"><i>When my oldest daughter Francesca was born in 2012 the only treatment was a galactose free diet. But diet adherence doesn’t ensure a complication-free life. Francesca’s body creates galactose at a higher level than any food she could consume. And because she does not have the enzymes to break down the galactose her body creates, it acts as a poison to her, potentially causing damage to her eyes, brain, liver and reproductive organs.
<br /></i></span></div><div dir="auto"><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/a/AVvXsEi3QnEK4RwSn-LkQn-WR0CFoT3NVvyTc3gkEZmPnL1QbrN0YcWEJ7fjVJGurlxSTqDd_RSBccNaS9Olfycf8WDnqariEDHeInoO-_6pEtlqcDa6ujQQBH4wXEeQ5JtGekToQCTbzCX2FuPsYNKwWEytdk3XFqprLYZMgiuClBMfaB2bizXXrQlZA9Xiqw=s960" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="960" data-original-width="960" height="320" src="https://blogger.googleusercontent.com/img/a/AVvXsEi3QnEK4RwSn-LkQn-WR0CFoT3NVvyTc3gkEZmPnL1QbrN0YcWEJ7fjVJGurlxSTqDd_RSBccNaS9Olfycf8WDnqariEDHeInoO-_6pEtlqcDa6ujQQBH4wXEeQ5JtGekToQCTbzCX2FuPsYNKwWEytdk3XFqprLYZMgiuClBMfaB2bizXXrQlZA9Xiqw=s320" width="320" /></a></div><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;"><i>In 2018 we started to learn about a possible clinical trial for a drug to treat Galactosemia. We were filled with hope. In the summer of 2021, Francesca joined the clinical trial. It was at the same time that we learned Applied Therapeutics was granted fast track designation by the FDA for AT-007. The understanding was because the drug will treat a serious condition and fulfill an unmet medical need, it would be fast tracked and likely receive accelerated approval based on the reduction of Galactitol. We cannot wait for outcomes to approve this drug. Every minute we wait, more damage is being done to our children.
<br /></i></span></div><div dir="auto"><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;"><i>We currently live in a constant state of unknowns. Will our girls have seizures? When will they start? What about the tremors? Will they be able to have children? How will the constant buildup of galactose in their blood impact them? Will their brain function diminish? When? How will they live on their own with this disease?
<br /></i></span></div><div dir="auto"><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;"><i>The only thing we knew for sure from the beginning…there was no possible treatment. Until now. Which is why my girls - and many others in our small but mighty community - need the accelerated approval of AT-007. The longer we wait, the more damage their little bodies will experience, damage that cannot be reversed.
<br /></i></span></div><div dir="auto"><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/a/AVvXsEhwx8YgRpdHBe2JskR_nVgLMqszY9kujCdK3rue6_zDpbyAbytYmjHLvYjGMnCntnGnN1EtQk8y_75KMk4D0uZbmWm09GsM4ICphtMU7nRJrguLFVQ2e_5XVOs1dAOEVA2JG8V1xki5HB4Y_weGZYNlNA8eXY9YP-WN6xjmPkuYQgplMhoGVvH1auUX3w=s2048" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="2048" data-original-width="1536" height="320" src="https://blogger.googleusercontent.com/img/a/AVvXsEhwx8YgRpdHBe2JskR_nVgLMqszY9kujCdK3rue6_zDpbyAbytYmjHLvYjGMnCntnGnN1EtQk8y_75KMk4D0uZbmWm09GsM4ICphtMU7nRJrguLFVQ2e_5XVOs1dAOEVA2JG8V1xki5HB4Y_weGZYNlNA8eXY9YP-WN6xjmPkuYQgplMhoGVvH1auUX3w=s320" width="240" /></a></div><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;"><i>It is my understanding the FDA could be making a decision soon about the drug. As a mom of these beautiful girls my voice only goes so far. I need the help of the Rare Disease Caucus; I need your help Congressman Upton. Please ask the FDA to pause on any communication and decision about this drug. Can you please help me implore the FDA to not turn their backs on Galactosemia, on our community and on Francesca and Amelia?
Jan. 28
Dear Congressman Upton,
Here is some additional information specific to my request for your help on behalf of my children with Galactosemia.</i></span></div><div dir="auto"><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;"><i>
Next week the health committee will have a hearing on Reauthorization of the <br />Prescription Drug User Free Act – which means there could be changes made to FDA’s Accelerated Approval process. </i></span></div><div dir="auto"><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;"><i>
As a mother with two children who have Galactosemia – a rare disease with no treatment, the FDA’s accelerated approval process is the only hope we have of getting a treatment approved and available to our children.</i></span></div><div dir="auto"><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;"><i>
When my oldest daughter Francesca was born in 2012 the only treatment was a galactose free diet. But diet adherence doesn’t ensure a complication-free life. Francesca’s body creates galactose at a higher level than any food she could consume. And because she does not have the enzymes to break down the galactose her body creates, it acts as a poison to her, potentially causing damage to her eyes, brain, liver and reproductive organs.
<br /></i></span></div><div dir="auto"><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;"><i>In 2018 we started to learn about a possible clinical trial for a drug to treat Galactosemia. </i></span></div><div dir="auto"><i style="color: #050505; white-space: pre-wrap;"><span style="font-family: arial; font-size: medium;"><br /></span></i></div><div dir="auto"><i style="color: #050505; white-space: pre-wrap;"><span style="font-family: arial; font-size: medium;">We were filled with hope. In the summer of 2021, Francesca joined the clinical trial. It was at the same time that we learned Applied Therapeutics was granted fast </span></i><i style="color: #050505; white-space: pre-wrap;"><span style="font-family: arial; font-size: medium;">track designation by the FDA for AT-007. The understanding was because the drug will treat a serious condition and fulfill an unmet medical need, it would be fast tracked and likely receive accelerated approval based on the reduction of Galactitol. We cannot wait for outcomes to approve this drug. Every minute we wait, more damage is being done to our children. </span></i></div></div><div class="cxmmr5t8 oygrvhab hcukyx3x c1et5uql o9v6fnle ii04i59q" style="background-color: white; margin: 0.5em 0px 0px; overflow-wrap: break-word;"><div dir="auto"><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;"><i><br /></i></span></div><div dir="auto"><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/a/AVvXsEhE97R_hMXOGdUyq_cqE7SXtRViEJR3CPSo7Ce9XyrM2nxKcaAQZggaDuHzzaLetvFkiNJt_8kLIhX7XbOFqMxcwwZkSV4S3fen3SJdOaN2qofjrackt5N4uWh87VH_wmSrPmhr95CB40T8vbeYBq_aK_csz_JBGndXxZrehpiY_A3lmggGZpoqa4XHKw=s960" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="958" data-original-width="960" height="319" src="https://blogger.googleusercontent.com/img/a/AVvXsEhE97R_hMXOGdUyq_cqE7SXtRViEJR3CPSo7Ce9XyrM2nxKcaAQZggaDuHzzaLetvFkiNJt_8kLIhX7XbOFqMxcwwZkSV4S3fen3SJdOaN2qofjrackt5N4uWh87VH_wmSrPmhr95CB40T8vbeYBq_aK_csz_JBGndXxZrehpiY_A3lmggGZpoqa4XHKw=s320" width="320" /></a></div><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;"><i>Although the Galactosemia program had previously been discussed as a candidate for accelerated approval based on reduction in galactitol, the FDA has now indicated that clinical outcomes data will likely be required for approval. While assessments are happening every six months in the clinical trial, reaching statistical significance and providing clinical outcome data could take years. Our kids don’t have years. The longer we wait, the more damage their little bodies will experience.</i></span></div><div dir="auto"><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;"><i>
Our Galactosemia community – and many other rare disease communities – need the Accelerated Approval program to continue, and we need a treatment for Galactosemia to be part of the program. </i></span></div><div dir="auto"><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;"><i>
Please keep us in mind next week when the health committee meets and considers changes to the FDA’s Accelerated Approval process. </i></span></div><div dir="auto"><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;">
Unfortunately, I didn't hear back from either representative and Congressman Upton did not bring it up at the meetings on Feb. 3, but Congressman Curtis from Utah did. He had moms across the U.S. cheering and in tears. Just hearing the words "galactosemia" and "AT-007" mentioned in Congress was a defining moment for us. As parents and advocates we can only do so much, but Congressman Curtis gave us a voice. It was such a moment of hope. There were other members who also brought up rare diseases in general and were helping us fight for our cause. </span></div><div dir="auto"><div style="text-align: center;"><span style="font-family: arial; font-size: medium;"><iframe allowfullscreen='allowfullscreen' webkitallowfullscreen='webkitallowfullscreen' mozallowfullscreen='mozallowfullscreen' width='320' height='266' src='https://www.blogger.com/video.g?token=AD6v5dzCO4oM5TZCs40tm0qgeow5s6jXsE9pcQLN5pk66yL0t75tbAriSfZdasBoK-zmUgNg-bAbWXIN_yzUbdt-LQ' class='b-hbp-video b-uploaded' frameborder='0'></iframe></span></div><div style="text-align: center;"><span style="font-family: arial; font-size: medium;"><br /></span></div><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;">So now we wait. And we hope for the best. Which leads me to the revelation I had today at church. When we started the clinical trial, I was cautiously optimistic at best about the success of the drug, but I knew if it was safe, it was worth trying. But today at church I lost it. The tears of fear and frustration from the last couple weeks broke loose. And then I realized something. I cannot put so much hope into a drug or in any earthly cure or process. I can advocate for it and I can support it, but my joy and my happiness cannot be tied up in. Because human things fail and let us down and drugs don't always work. So, in the midst of this realization I laid it down before Jesus. I laid down my fears, my hopes, my children's futures, whether they include a treatment or a cure or a life of manageable challenges. I cannot control it so I cannot let the emotion of finding a treatment or cure consume me. That's not to say I'm giving up. I will continue to fight, I will continue to advocate but above all, I will continue to pray. I will let God's will and direction dictate my actions and not fear. I will remember God's got this. He's got my girls and their futures in the palm of His hand. And He doesn't make mistakes.
</span><div class="separator" style="clear: both; color: #050505; text-align: left; white-space: pre-wrap;"><span style="font-family: arial; font-size: medium;"><br /></span></div><div class="separator" style="clear: both; color: #050505; text-align: center; white-space: pre-wrap;"></div><span style="color: #050505; font-family: arial; font-size: medium; white-space: pre-wrap;"><br /><br /></span></div><div dir="auto" style="color: #050505; white-space: pre-wrap;"><span style="font-family: arial; font-size: medium;"><br /></span></div><div dir="auto" style="color: #050505; white-space: pre-wrap;"><i><span class="pq6dq46d tbxw36s4 knj5qynh kvgmc6g5 ditlmg2l oygrvhab nvdbi5me sf5mxxl7 gl3lb2sf hhz5lgdu" style="display: inline-flex; height: 16px; margin: 0px 1px; vertical-align: middle; width: 16px;"><span style="font-family: arial; font-size: medium;"><br /></span></span></i></div><div dir="auto" style="color: #050505; font-family: inherit; font-size: 15px; white-space: pre-wrap;"><i><span class="pq6dq46d tbxw36s4 knj5qynh kvgmc6g5 ditlmg2l oygrvhab nvdbi5me sf5mxxl7 gl3lb2sf hhz5lgdu" style="display: inline-flex; font-family: inherit; height: 16px; margin: 0px 1px; vertical-align: middle; width: 16px;"><br /></span></i></div></div>Jodiehttp://www.blogger.com/profile/04841239583690363022noreply@blogger.com0tag:blogger.com,1999:blog-4778548872703158762.post-5500620661504551162021-07-16T07:32:00.003-07:002021-07-16T07:33:25.301-07:00Francesca Starts the Clinical Trial <p> <span style="font-size: 12pt;">Since I know we
have followers on here and across other social media platforms, I wanted to
share the updates I posted about the clinical trial on Facebook. It was a
challenging week, but Francesca was a rock star and I am so, so proud of her. I
am home for a couple days and then heading back Sunday night for the week, with
Amelia. </span></p><p class="MsoNormal" style="line-height: normal; mso-margin-bottom-alt: auto; mso-margin-top-alt: auto;">
</p><p class="MsoNormal" style="background: white; line-height: normal; margin-bottom: 0in;"><b><span style="color: #050505; font-size: 12pt; mso-bidi-font-family: Calibri; mso-bidi-theme-font: minor-latin; mso-fareast-font-family: "Times New Roman";">Clinical Trial Diaries -
Day 1</span></b><span style="color: #050505; font-size: 12pt; mso-bidi-font-family: Calibri; mso-bidi-theme-font: minor-latin; mso-fareast-font-family: "Times New Roman";">:
Francesca was a rockstar. We left Williamston at 6:30 a.m. and she was </span><span style="color: #050505; font-size: 12pt;">not
impressed - her exact words were “oh man, it’s not even morning time yet.” </span><span style="color: #050505; font-size: 12pt;">Things kicked off at 8 a.m.:</span></p><p></p><p class="MsoNormal" style="line-height: normal; mso-margin-bottom-alt: auto; mso-margin-top-alt: auto;"></p><p class="MsoNormal" style="background: white; line-height: normal; margin-bottom: 0in;"><span style="color: #050505; font-size: 12pt; mso-bidi-font-family: Calibri; mso-bidi-theme-font: minor-latin; mso-fareast-font-family: "Times New Roman";"><o:p></o:p></span></p>
<p class="MsoNormal" style="background: white; line-height: normal; margin-bottom: 0in;"></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiQvAtWYa1-lpYvrzTAbnA79a0DsDBcnYZR5s5nOj5T6jEKZW9zDWDT6N29Uwl3oFKrPe8AFosQ3wLRuw983PD9Rr8awj0x1NWUdGC1cE2GtWWp9HFl2BiI326A0YLtE4QAFZ9pyaF3BeDm/s1536/Day+1.jpg" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="1536" data-original-width="1536" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiQvAtWYa1-lpYvrzTAbnA79a0DsDBcnYZR5s5nOj5T6jEKZW9zDWDT6N29Uwl3oFKrPe8AFosQ3wLRuw983PD9Rr8awj0x1NWUdGC1cE2GtWWp9HFl2BiI326A0YLtE4QAFZ9pyaF3BeDm/s320/Day+1.jpg" /></a></div><span style="color: #050505; font-size: 12pt; mso-bidi-font-family: Calibri; mso-bidi-theme-font: minor-latin; mso-fareast-font-family: "Times New Roman";"><ul style="text-align: left;"><li><span style="color: #050505; font-size: 12pt; mso-bidi-font-family: Calibri; mso-bidi-theme-font: minor-latin; mso-fareast-font-family: "Times New Roman";"><span style="font-size: 12pt;">vitals</span></span></li><li>blood draw</li><li>ecg</li><li>neuro exam</li><li>a feel and function test</li><li>eye exam</li></ul></span>
<p class="MsoNormal" style="background: white; line-height: normal; margin-bottom: 0in;"><span style="color: #050505; font-size: 12pt; mso-bidi-font-family: Calibri; mso-bidi-theme-font: minor-latin; mso-fareast-font-family: "Times New Roman";">It wasn’t all work. We
had a great tour of the hospital and found a lot of great superheroes who are
almost as amazing as our Galacto Girl! The only meltdown was when we got back
to the hotel and she was so frustrated about not being able to see because of
getting her eyes dilated. <o:p></o:p></span></p>
<p class="MsoNormal" style="background: white; line-height: normal; margin-bottom: 0in;"><span style="color: #050505; font-size: 12pt; mso-bidi-font-family: Calibri; mso-bidi-theme-font: minor-latin; mso-fareast-font-family: "Times New Roman";">I am in awe of my girl.
She was full of smiles all day, rolled with some unexpected bumps and is still
smiling while we watch a movie before bed. Tomorrow will be another long day -
including a 90 minute MRI. Please keep the
prayers coming. I definitely felt them today! And we appreciate all the
messages we received. Love you all. </span></p>
<p class="MsoNormal"></p><div class="separator" style="clear: both; text-align: right;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEi1W-1iOP1pFvBTRFJpaVCTe8197WvDNjmM2I4ybNSvgJLxApyx1BQOX_zjSias2sDASg49GicI21WBucAJO-35v9zM-E2yWcYCV8njEz0mcbZXPuvTCymqBPyJH8alhlxuhjZgsLlCPaqf/s1536/Day+2.jpg" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="1536" data-original-width="1536" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEi1W-1iOP1pFvBTRFJpaVCTe8197WvDNjmM2I4ybNSvgJLxApyx1BQOX_zjSias2sDASg49GicI21WBucAJO-35v9zM-E2yWcYCV8njEz0mcbZXPuvTCymqBPyJH8alhlxuhjZgsLlCPaqf/s320/Day+2.jpg" /></a></div><b><span style="color: #050505; font-size: 12pt; line-height: 107%; mso-bidi-font-family: Calibri; mso-bidi-theme-font: minor-latin; mso-fareast-font-family: "Times New Roman";">Clinical Trial Diaries - Day 2:</span></b><span style="color: #050505; font-size: 12pt; line-height: 107%; mso-bidi-font-family: Calibri; mso-bidi-theme-font: minor-latin; mso-fareast-font-family: "Times New Roman";">
Today started out promising and is ending okay but the middle was </span><span style="color: #050505; font-size: 12pt;">rough.
Francesca rocked her speech and language assessment and was amazing for the
MRI. She had to lay still for an hour - I don’t know a lot of adults who could
do it, but she was great. We got back to the hotel around 2 and Francesca was
so excited to go swimming. But she thought the water was super cold and that
made her sad. I think she was mostly crying because she was frustrated with
herself for being too cold but still wanting to swim. She just sat on the
window ledge behind the curtains in our hotel room and sobbed. </span><span style="color: #050505; font-size: 12pt;">Then I got a call
from the doctor. It turns out Francesca has a UTI - which they found from the
urine analysis they did. She is not complaining and doesn’t have any symptoms. </span><span style="color: #050505; font-size: 12pt;">It’s a
long, boring story but ultimately the plan is to still give her the first dose
of the trial drug tomorrow but then also start her on an antibiotic. Then she
won’t take the trial drug again until after she’s done with the antibiotics.
It’s the best course of action to treat the infection but make sure she is
officially enrolled in the trial. Soooo after that news she really wanted to
try the pool again. And she did great! We’ll be heading back to the hospital at
6:30 tomorrow morning. She’ll have to fast for a few hours in the morning which
will be tough and she’ll receive the first does of the medication. Then it will
be a long day of getting labs every 2 hours, until around 8 p.m. tomorrow
night. Thanks for the continued love and support of our </span><a href="https://www.blogger.com/blog/post/edit/4778548872703158762/398263363520184302" style="font-size: 12pt;"><span style="border: 1pt none windowtext; mso-border-alt: none windowtext 0in; padding: 0in;">#galactogirls</span></a><span style="color: #050505; font-size: 12pt;">. </span><p></p><p></p><p class="MsoNormal" style="line-height: normal; mso-margin-bottom-alt: auto; mso-margin-top-alt: auto;"></p><p class="MsoNormal"><span style="color: #050505; font-size: 12pt; line-height: 107%; mso-bidi-font-family: Calibri; mso-bidi-theme-font: minor-latin; mso-fareast-font-family: "Times New Roman";"><span style="mso-no-proof: yes;"><!--[endif]--></span></span></p><p class="MsoNormal"></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh8qD_rnSHbyNb0d8YsWvqyKZFc3nHQoH2fmRwAELAjOmxXtaoEcv_aqdVXAGrvnEJw3_NJrv6k8WFkfqlpARG7ROEIb_8fo-QFcIR7k0ClYxEymRRfGegR4pZOx26V6ISzOikgec9WCMpf/s1536/Day+3.jpg" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="1536" data-original-width="1536" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh8qD_rnSHbyNb0d8YsWvqyKZFc3nHQoH2fmRwAELAjOmxXtaoEcv_aqdVXAGrvnEJw3_NJrv6k8WFkfqlpARG7ROEIb_8fo-QFcIR7k0ClYxEymRRfGegR4pZOx26V6ISzOikgec9WCMpf/s320/Day+3.jpg" /></a></div><span style="background: white; color: #050505; font-size: 12pt; line-height: 107%; mso-bidi-font-family: Calibri; mso-bidi-theme-font: minor-latin;"><b>Clinical Trial
Diaries - Day 3</b>: It was a long and uneventful but emotional day. Francesca got
her first dose of the medicine (or placebo) at 7:40 this morning. A few hours later she
started her antibiotic for the UTI. By the afternoon she was just over it. We
both were. We left the hospital at 8 p.m. and returned to the hotel to the most
thoughtful gift. </span><a href="https://www.facebook.com/sara.armstrong.39?__cft__%5b0%5d=AZVd4hBo6AWGlh3uy8lX53-UvcWsf5cZcKFZP4KhevxeigqPPd5wxHy6MowYLC4-I_EwX3bfFmfbKMPYtO23sh_fO6MWUbaCPnpFkMBuw4BazmChermBL782x_6T6OPo5xHyItB632fcp8-TG9DkGdvfqdbPYgh992FzYm3y2EB3rJSybdFBJaoMJ9fQjAXf-Eo&__tn__=-%5dK-R" role="link" style="-webkit-tap-highlight-color: transparent; border-color: initial; border-style: initial; box-sizing: border-box; color: var(--accent); cursor: pointer; outline: none; text-align: inherit; touch-action: manipulation;"><span style="-webkit-text-stroke-width: 0px; font-variant-caps: normal; font-variant-ligatures: normal; orphans: 2; text-align: start; text-decoration-color: initial; text-decoration-style: initial; text-decoration-thickness: initial; white-space: pre-wrap; widows: 2; word-spacing: 0px;"><span class="nc684nl6"><span style="border: 1pt none windowtext; padding: 0in;">Sara Armstrong</span></span></span></a><span style="-webkit-text-stroke-width: 0px; float: none; font-variant-caps: normal; font-variant-ligatures: normal; orphans: 2; text-align: start; text-decoration-color: initial; text-decoration-style: initial; text-decoration-thickness: initial; white-space: pre-wrap; widows: 2; word-spacing: 0px;"> had dropped off a gift basket with balloons from her daughter (Francesca’s friend), Wesley. As a side note, one of the things I always dreaded/worried about was sending Francesca to birthday parties because of her dietary restrictions. The first friend birthday party I allowed her to go to was Wesley’s. I remember feeling bad/like an inconvenience when I talked to Sara - but she was amazing and I knew our girl was in good hands. I appreciate you, Sara! It quickly went from a terrible day to the best day ever. (It was also helped by opening her “brave bag” from Dawn and family.) Because she’s not getting any more trial medicine until she’s done with the antibiotic, tomorrow’s visit will be quick and we hope to be home by lunchtime! Chris will take her Tuesday to her pediatrician for a urine recheck and if everything looks good she should start receiving the trial drug later next week. I can’t believe our brave girl will be 7 tomorrow. I am so blessed to be her mama. </span><span style="-webkit-text-stroke-width: 0px; display: inline-flex; font-variant-caps: normal; font-variant-ligatures: normal; orphans: 2; text-align: start; text-decoration-color: initial; text-decoration-style: initial; text-decoration-thickness: initial; white-space: pre-wrap; widows: 2; word-spacing: 0px;"><br /><!--[endif]--></span><o:p></o:p><p></p>
<p class="MsoNormal"><b><span style="background: white; color: #050505; font-size: 12pt; line-height: 107%; mso-bidi-font-family: Calibri; mso-bidi-theme-font: minor-latin;">Clinical Trial Diaries - Day 4:</span></b><span style="background: white; color: #050505; font-size: 12pt; line-height: 107%;"> It was a quick
visit this morning with a blood draw and visit from the doctor. The only pic I
took was after coming out of the bathroom to find her across the hall in the
office with the doctor and Jackie, the coordinator who had been amazing to us
this week! </span>We were home by 9 a.m. and she received the best birthday surprise
- a loft bed made by Uncle Andy! I am so proud of this kid. It was not an easy week,
but she did it (most of it anyway) with a smile on her face. And she’s been
telling Amelia about all the things she can expect next week. Happy Birthday to
the OG <a href="https://www.facebook.com/hashtag/galactogirl?__eep__=6&__cft__%5b0%5d=AZWRJQBwJqr2AdHAKM-cVQfc-JXR7ji7CD8x37KtB46bg7iIidyxzlcOjFdbCixByH9h8CJWFgSYMYqy3orw4d6lUciXbE8FOumLMzt22WSYojkTqw0Aw-ZEKy4VlxBV-ECV_tvKSSsSHu9f-2FRON9-cnQNrtJbSp0n-hP9tzJTAW1CuHm_g2Q37raxHb6A1Po&__tn__=*NK-R" role="link" style="-webkit-tap-highlight-color: transparent; border-color: initial; border-style: initial; box-sizing: border-box; cursor: pointer; outline: none; text-align: inherit; touch-action: manipulation;"><span style="white-space: pre-wrap;"><span style="border: 1pt none windowtext; padding: 0in; text-decoration-line: none;">#GalactoGirl</span></span></a><span style="white-space: pre-wrap;">.</span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiYHW-ZbIffy8MSsAWSVFMLTImqwhsr41a96rumYG5OWK_KInS_5UhZEy4-09iYIfYr7Vts4vd-iYCx91YLkPDAMnVrIxQ8MRjdKwcBRX5jgnxR6dFN2OaHDHuLPZil2_g6zyhJig2sX9lw/s1536/Day+4.jpg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1536" data-original-width="1536" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiYHW-ZbIffy8MSsAWSVFMLTImqwhsr41a96rumYG5OWK_KInS_5UhZEy4-09iYIfYr7Vts4vd-iYCx91YLkPDAMnVrIxQ8MRjdKwcBRX5jgnxR6dFN2OaHDHuLPZil2_g6zyhJig2sX9lw/s320/Day+4.jpg" /></a></div><p></p><br /><p></p>Jodiehttp://www.blogger.com/profile/04841239583690363022noreply@blogger.com0tag:blogger.com,1999:blog-4778548872703158762.post-5856478038614832962021-07-06T18:57:00.006-07:002021-07-06T20:20:12.568-07:00The Galacto Girls Join the Clinical Trial<p> </p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiEL3gaWD93jtb1qWOGmzj9UFWiJo093vCahuv-9gWRRNCdzrqP5JOSmUnkaoLfFXtfyAJViD8lS4Ytf4YOfJjuv8lQLfC3jTULPGdN6zUsDfWaBEw907z2MaE5A-zRQbf9htcnJNgBAbvt/s960/156780805_10109956571318278_8123756102068266446_n.jpg" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="960" data-original-width="954" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiEL3gaWD93jtb1qWOGmzj9UFWiJo093vCahuv-9gWRRNCdzrqP5JOSmUnkaoLfFXtfyAJViD8lS4Ytf4YOfJjuv8lQLfC3jTULPGdN6zUsDfWaBEw907z2MaE5A-zRQbf9htcnJNgBAbvt/s320/156780805_10109956571318278_8123756102068266446_n.jpg" /></a></div><p class="MsoNormal">Well, things just got real. We’ve been planning on enrolling
the girls in the first ever clinical trial for a potential drug treatment for
galactosemia for a few months now. Last week, we thought they would be going in
August – after we return from our annual vacation in the U.P. Then I got a voicemail
on Saturday asking if I could call them back, it was urgent. The direction from
the sponsor was if we wanted to be part of the trial, we needed to come in yet
this month. So, as of now (but things with this trial change a lot and quickly)
I will be taking Francesca to Ann Arbor next Monday and staying until Thursday.
Then I will return the following Monday - Thursday with Amelia. And then we’ll
go on our vacation. (Insert wild laughter and hyperventilating here.)</p><p class="MsoNormal">So – a little background on how we got here. A few years ago,
we learned some really exciting news – there was a drug company interested in
developing a treatment for galactosemia. As a rare disease this was huge; companies
don’t take interest in rare diseases like galactosemia. We had no idea what the
timeline would look like or what it would mean for our galacto girls, but we
were hopeful. When the clinical trial started, I was excited but didn’t plan to
enroll the girls for two reasons. First, they are thriving. They aren’t
currently experiencing any delays, so I didn’t feel the urgent need to get them
on the medicine. The clinical trial was also taking place exclusively in
Atlanta and the initial stay lasted around 7 days. I just couldn’t see how we
could make the logistics work…until a couple months ago. Earlier this summer, they
announced additional testing sites were opening, including one in Ann Arbor,
Michigan – less than an hour from where we live. And they were enrolling in
Part B, which would only require a 2-3 day clinic stay for the initial visit.</p><p class="MsoNormal"><o:p></o:p></p>
<p class="MsoNormal"></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjEzOTFGGQfln1Q9t_lXb2OG-9Bmoh9DdsrD9sUqwlAyJvIVhblYYT9ZG_Iri5kvgZeHPULMt7yfpGjDy-mOZ42vOJlqVrij0XxUPFDPET6xjv3pqPWTfwSbhQXkfM4Apdb92ddeRwdaHFx/s960/galacto+girls+blood+draw.jpg" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="960" data-original-width="720" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjEzOTFGGQfln1Q9t_lXb2OG-9Bmoh9DdsrD9sUqwlAyJvIVhblYYT9ZG_Iri5kvgZeHPULMt7yfpGjDy-mOZ42vOJlqVrij0XxUPFDPET6xjv3pqPWTfwSbhQXkfM4Apdb92ddeRwdaHFx/s320/galacto+girls+blood+draw.jpg" /></a></div>I knew then that we had to do it, for a couple reasons.
First, we are a rare disease community – if we want to show the FDA that there
is a need to get this potential treatment fast tracked and available for our
kids, we need to show up for the trial. Second, while my girls don’t have any
known impacts now, research indicates that over time they will be impacted –
their bodies will continue to create galactose, and without a way to break it
down – it will act as a poison attacking their organs and causing issues that
could result in tremors, seizures or a host of other issues. I need to fight
for my kids to have the best chance at a healthy life, and that means getting them
on a potential treatment, as soon as possible. <o:p></o:p><p></p>
<p class="MsoNormal"></p>So, what is the point of the clinical trial? Applied
Therapeutics believes many of the long-term complications are created by
galactitol. Galactitol only exists in people with galactosemia and occurs when aldose
reductase changes galactose into toxic galactitol. (Huh? It’s confusing, I
know! Watch this video for a better explanation: <a href="https://youtu.be/U_uInPTBmLA">https://youtu.be/U_uInPTBmLA</a>.) <span style="mso-spacerun: yes;"> </span>Anyway, the medication they are testing has
been shown to lower the amount of galactitol in participants without raising
the Gal-1-P (amount of galactose in the blood). Currently they are wrapping up
Part A, which is determining the correct dose for each of the three age groups.
(Ages are 2-6, 7-13 and 14-17). <o:p></o:p><p></p>
<p class="MsoNormal">As participants in part B, the girls will receive the
medicine (or could be given the placebo…it’s a double-blind study so we won’t
know what they get until the end of the trial) and go through extensive
multiple-day testing (think MRI, EKG, blood work, speech and language, eye exam
and neuro testing). After the initial clinic visit, a nurse will do home health
visits at 30 days and 60 days. Then we will return to the clinic at 90 days.
After that they will receive monthly blood draws (at home) and we will return
every 6 months for 1-2 days of testing, until the end of the clinical trial. <span style="mso-spacerun: yes;"> </span><o:p></o:p></p>
<p class="MsoNormal">The galacto girls had their initial blood test to confirm
their diagnosis and provide additional necessary medical information in early
June. And we had been waiting for next steps…until I got the call over the
weekend. <o:p></o:p></p>
<p class="MsoNormal"></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjpFMumykuSekulNXr-wepcxafSsIK_At2SKqGmVnEZhP9c1Yco_vLxruwjvGWXXZbANp3rcVokJ89jTlQQPbU9VzvNaGsWh3q9pgmDaG4WPFCzwGo90IMrQP0ckDaVnx6UUrcsuLuq8ByG/s960/galacto+girls+blood+draw2.jpg" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="960" data-original-width="720" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjpFMumykuSekulNXr-wepcxafSsIK_At2SKqGmVnEZhP9c1Yco_vLxruwjvGWXXZbANp3rcVokJ89jTlQQPbU9VzvNaGsWh3q9pgmDaG4WPFCzwGo90IMrQP0ckDaVnx6UUrcsuLuq8ByG/s320/galacto+girls+blood+draw2.jpg" /></a></div>So, yes – I’m panicking. I honestly don’t know how I’m going
to make it through the next few weeks. It’s a huge time commitment. It’s a
sacrifice. It’s hard to watch the girls go through the anxiety of the blood
draws. But it’s even harder to think about a future with no treatment, with no
hope of mitigating the deficits they will most likely experience over time. It’s
for a better future – for our galacto girls and all our friends with
galactosemia. <o:p></o:p><p></p>
<p class="MsoNormal">And yet, nothing is promised. Will the medicine work? Will
it really make a difference and reduce the long-term complications? I have no
idea. But we are showing up for our small but mighty rare community. And if it
doesn’t work – we’ll be ready for the next opportunity. Because my girls
deserve to live the best possible life, even if it means long days, sleepless
nights and discomfort for a short time. That is what I am going to keep telling
myself – when I start to doubt that it’s worth it, when I want to quit, when the
tears come (from both me and them, probably), when it seems like they can’t
take another needle poke. It will be worth it. Maybe not today, maybe not in a
year or even two– but eventually, if it helps with the complications, it will
be worth it. And even if it doesn’t – we will know we did everything we could while
we wait for a successful treatment.</p><o:p></o:p><p></p>
<p class="MsoNormal">So, if everything happens as currently planned, I’ll be
taking Francesca on Monday, July 12 and staying until Thursday, July 15…which
happens to be our sweet girl’s 7<sup>th</sup> birthday. Not the best way to
celebrate, but it is out of our control. Then I will return the following week
with Amelia. Please keep us in your prayers over the next few weeks. I’m not
sure how we’re going to do it, but we will. Because we can do hard things. <o:p></o:p></p>Jodiehttp://www.blogger.com/profile/04841239583690363022noreply@blogger.com3tag:blogger.com,1999:blog-4778548872703158762.post-85767043455922778762021-01-18T12:04:00.004-08:002021-01-22T06:41:52.560-08:00GLOW: Galacto Girl Style <p>As we approach our second GLOW: Galacto Girl Style event (virtual this year) I thought it was probably a good time to look back at last year's event. </p><p></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEizbdEZ0jChAD5BHatrFoYPCBEl5grgyOTdCsyRvsehkXvf-bp5g4VYLkMsSkHUuJcuQfwveEg4gv52wQTMPdKPUdSrcBktmlYvgjeRzGu6wEFpDG1-UikyrL0yL-EOkDDBi3Oksijjnl5W/s960/Galacto+Girl+media.jpg" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="958" data-original-width="960" height="199" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEizbdEZ0jChAD5BHatrFoYPCBEl5grgyOTdCsyRvsehkXvf-bp5g4VYLkMsSkHUuJcuQfwveEg4gv52wQTMPdKPUdSrcBktmlYvgjeRzGu6wEFpDG1-UikyrL0yL-EOkDDBi3Oksijjnl5W/w200-h199/Galacto+Girl+media.jpg" width="200" /></a></div>This year will definitely look much different since we won't be GLOWING together in person, but I'm still excited about the awareness and funds we can raise. <p></p><p></p>So, a look back: Last year was our first year participating in GLOW - an amazing fundraiser started by my friend Brittany in Tennessee in honor of her daughter Ansell, who has Galactosemia. Our first event was a huge success starting with two different news crews interviewing me two days before the event. We had 74 people attend the event and between the registrations and donations team GLOW: Galacto Girl Style raised over $2,000. <p></p><p></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh0G7Rp5hSx5MlMbZFMkwij2kSZGwdA4fO-tyCo15cmReG5EC3KHlP3f74B_Q47AXLkJyPWytIKuYljhJfIkGLmC1RwksVHgOdLYQb0pMOKbZMj23bEUtzxOlYKKM1qQwmt4M3b6nIyk_d-/s960/GLOW+group.jpg" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="720" data-original-width="960" height="153" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh0G7Rp5hSx5MlMbZFMkwij2kSZGwdA4fO-tyCo15cmReG5EC3KHlP3f74B_Q47AXLkJyPWytIKuYljhJfIkGLmC1RwksVHgOdLYQb0pMOKbZMj23bEUtzxOlYKKM1qQwmt4M3b6nIyk_d-/w204-h153/GLOW+group.jpg" width="204" /></a></div>Because I'm not what you would call an avid runner (okay, probably could have omitted the word "avid") - we went with a "MOVE" event. There were stations where attendees could move their bodies and their minds. Attendees played basketball, walked laps, did yoga and also colored, played board games and learned about Galactosemia. The day was so much more than I could have expected or hoped for! <p></p><div style="text-align: left;">We held the event at our church, South Lansing Christian Church (and hope to gather in person there again for a future event!) The morning of the event I attended church and was so moved by one of the songs, which was so appropriate for that day and our Galactosemia story. Here is part of the Facebook post I made: </div><div style="text-align: left;"><br /></div><div style="text-align: left;"><div><i><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEijFlAZBinDay1xor99dWdawCtnr8i2mKzdVSrg71rF8ouxvShuWKa2hcLU6_2NUEOENcErO9x5n01rM7yywVC_8NCvE5DUGeH9gnSr-22Vc99Q9O0urK25h2t6wb2GhVARdzf_cT4xoYwa/s960/GLOW+Solari+fam.jpg" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="960" data-original-width="720" height="228" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEijFlAZBinDay1xor99dWdawCtnr8i2mKzdVSrg71rF8ouxvShuWKa2hcLU6_2NUEOENcErO9x5n01rM7yywVC_8NCvE5DUGeH9gnSr-22Vc99Q9O0urK25h2t6wb2GhVARdzf_cT4xoYwa/w171-h228/GLOW+Solari+fam.jpg" width="171" /></a></div>“Great is your faithfulness...you never change, you never fail, O God.” He has been so faithful to me and our family - I may forget that sometimes or question it in moments of weakness, but it’s not that He isn’t faithful - sometimes His timeline just doesn’t match up with ours. And that’s because His plan for us, our life and our family is so much bigger than we could imagine. </i></div><div><i><br /></i></div><div><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhh-fLyXGSuMmm1G3AY67fnE8nYd9b0Gqmt9H7GHASPj5Jix6W1laPtAMLoF5pfXR2KExH5QYS_-POansr0U1zkS69VKbBjA0_tdVDRpm4H_jPmcOrsp8ILWmKcQBYdFqqRRW18rBY7RmUx/s960/GLOW+pic.jpg" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" data-original-height="720" data-original-width="960" height="148" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhh-fLyXGSuMmm1G3AY67fnE8nYd9b0Gqmt9H7GHASPj5Jix6W1laPtAMLoF5pfXR2KExH5QYS_-POansr0U1zkS69VKbBjA0_tdVDRpm4H_jPmcOrsp8ILWmKcQBYdFqqRRW18rBY7RmUx/w197-h148/GLOW+pic.jpg" width="197" /></a><i>And at the end of the day, after everyone left and we had locked up, I sat in the prayer room at church and thanked God for His faithfulness, for all of you and for my husband and my girls. Navigating this medical condition was not something I could have ever imagined but I would also not change it for anything because that would mean changing my girls and I would never want that. And I asked him for strength and wisdom to keep being the mom my girls need me to be, even when I’m not feeling particularly strong. I know He will continue to be faithful. We are blessed.</i></div><div><i><br /></i></div><div><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjb7HrAukfcVCt4XnsvtDGIBDqah1mF9fu2iKtfy7VNp0wviwtCIgsfvnQlFtexMMKue93GchyJli-S8QeJBs3Evfol19BdSphE4jt__Msh8vA9g7P3VlrsFVaSrPieTVlxve34rSQM61Yk/s1079/Yoga.jpg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="473" data-original-width="1079" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjb7HrAukfcVCt4XnsvtDGIBDqah1mF9fu2iKtfy7VNp0wviwtCIgsfvnQlFtexMMKue93GchyJli-S8QeJBs3Evfol19BdSphE4jt__Msh8vA9g7P3VlrsFVaSrPieTVlxve34rSQM61Yk/s320/Yoga.jpg" width="320" /></a></div><div><br /></div><div><b>GLOW: GALACTO GIRL STYLE 2021 - register today!</b></div><div><br /></div><div>So, looking forward to this year - it's not how we would prefer to have the event, but it is what makes sense as we make our way through this pandemic. We can still make memories, get some exercise and learn something new. And most importantly, we can still raise awareness and funds for our Galactosemia community. </div><div><br /></div><div>For those interested in joining our event, you can sign up here: <a href="https://runsignup.com/Race/Register/?raceId=68674&eventId=450216&fbclid=IwAR1nL4syGZsdTrDVlWbTQz4elaUSVY97L76MuWbx-77DtduJ5GJJnpXz4l4">https://runsignup.com/Race/Register/?raceId=68674&eventId=450216&fbclid=IwAR1nL4syGZsdTrDVlWbTQz4elaUSVY97L76MuWbx-77DtduJ5GJJnpXz4l4</a></div><div><br /></div><div>Make sure to register as a virtual participant and then say yes to joining a team and join <b>GLOW: Galacto Girl Style</b>. You will receive a glow in the dark t-shirt and mask for every registration. The money from registration goes to benefit the Galactosemia Foundation. <b>You must register by Feb. 10.</b></div><div><br /></div><div>For the details on our specific event - check out our Facebook event: <a href="https://fb.me/e/1PD20D6P5">https://fb.me/e/1PD20D6P5</a></div><div><br /></div><div>We will start with a Facebook Live event at 10 a.m. - after that, it's up to you, but we ask four things:</div><div><br /></div><div><div>1. <b>MOVE</b> - Get active! Do yoga, take a walk or have a dance party - whatever sounds like fun!</div><div>2. <b>LEARN</b> - We will share some great new resources available and other information so you can learn more about the disease our Galacto Girls live with, every day.</div><div>3.<b> EDUCATE</b> - Help us spread the word about Galactosemia and why it is so important to raise funds and support research by posting information about Galactosemia and Rare Disease Day on your social media.</div></div><div>4. <b>SHARE</b> - Post a picture on social media of you/your family GLOWING on Feb. 28! Use any or all of the following hashtags: #GalactoGirls #glowforgalactosmeia #rarediseaseday</div><div><br /></div></div><div style="text-align: left;"><div class="separator" style="clear: both; text-align: center;"><br /></div><span style="background-color: white; color: #050505; font-family: inherit; font-size: 15px; white-space: pre-wrap;"><div class="separator" style="clear: both; text-align: center;"></div><table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto;"><tbody><tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh_K3B7h2J33yQdpolNU4YiqZnoU8x24wjINOxB5v5vpYWqF98r5bylKOIn0CpiJKZKztR8AS1resFjTPkJAyxtobNcIs3HiAC9YQMH99bjNYS-oLJhUXr70nnI-DFqci0Qf5kDgLg2wHUN/s1023/Galcto+Girls.jpg" style="margin-left: auto; margin-right: auto;"><img border="0" data-original-height="680" data-original-width="1023" height="193" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh_K3B7h2J33yQdpolNU4YiqZnoU8x24wjINOxB5v5vpYWqF98r5bylKOIn0CpiJKZKztR8AS1resFjTPkJAyxtobNcIs3HiAC9YQMH99bjNYS-oLJhUXr70nnI-DFqci0Qf5kDgLg2wHUN/w292-h193/Galcto+Girls.jpg" width="292" /></a></td></tr><tr><td class="tr-caption" style="text-align: center;"><br /></td></tr></tbody></table><br />P.S. Newscasts covering our event last year available here: <a href="https://www.wlns.com/news/galactosemia-what-is-it-family-shares-story-of-daughters-rare-disease/">https://www.wlns.com/news/galactosemia-what-is-it-family-shares-story-of-daughters-rare-disease/</a> and <a href="https://www.wilx.com/content/news/Williamston-mom-raises-awareness-of-rare-disease-day--568350051.html">https://www.wilx.com/content/news/Williamston-mom-raises-awareness-of-rare-disease-day--568350051.html</a><br /><br /><div class="separator" style="clear: both; text-align: center;"></div><br /><br /><br /><br /><br /><i><br /></i><div class="separator" style="clear: both; text-align: center;"><br /></div></span></div><p style="font-family: inherit; text-align: left;"><br /></p>Jodiehttp://www.blogger.com/profile/04841239583690363022noreply@blogger.com0tag:blogger.com,1999:blog-4778548872703158762.post-59599242138372219342020-05-09T20:33:00.000-07:002020-05-22T10:46:01.268-07:00And then there were two...Galacto Girls Well, two days before the twins turn 2, seems like a good day to introduce Galacto Girl 2.0 (and Dairy Queen) to the blog. (Oy...life is clearly a little busy). But here goes...<br />
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We knew there was a chance one (or both) of the twins would have Galactosemia, so when they were born we put them on Soy Formula and waited for the Newborn Screen results. From the moment they were born Amelia had oxygen/breathing issues, so I didn't even hold her. I heard two babies cry, I heard reports of two "good size twins" but it took me a little bit to realize I only had Baby B on my chest. I finally said "Where is Baby A" and that's when Chris (or someone) told me she was having some breathing issues and was on Oxygen. </div>
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I didn't think much of it at the time in relation to Galactosemia, but I probably should have - that is exactly how things started with Francesca. Amelia was taken to the NICU and Annabelle was able to come in the room with me. The next few days were a roller coaster - but a familiar one. Amelia's white blood count was low and there was something showing on her lungs (likely fluid), so they put her on an antibiotic. One thing would get resolved (coming off oxygen) and then another thing would pop up (IV for possible infection). Then her blood sugar was off. I'm not sure after which "new" issue I realized it, but I remember saying to my mom "If we have another Galacto Girl, I'm pretty sure I know who it is." If you look back at one of my first blogs about the Seven Day Eternity - these were all issues that Francesca had. Francesca was never put in the NICU though - when she was born Sparrow had a "Special Care Nursery" and she was there. I was able to hold Francesca from the beginning. That was not the case with Amelia - she was in an incubator and hooked up to all kinds of stuff. I didn't get to hold her until the day after she was born.</div>
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhMwSggFwTE7BhEmypBCLuMAa1wDp3qn_7v27z4Jg77Rnjvt85-iCCxvpyqWzpR3wOZMG5J0YxaGbhDnDxYdM6QJhcUYHT2cJ8l_Rtdvfs3Wa7NUChRG0hGy1wJtp3N_91X2rp5Z49Xof37/s1600/amelia+head.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="720" data-original-width="960" height="150" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhMwSggFwTE7BhEmypBCLuMAa1wDp3qn_7v27z4Jg77Rnjvt85-iCCxvpyqWzpR3wOZMG5J0YxaGbhDnDxYdM6QJhcUYHT2cJ8l_Rtdvfs3Wa7NUChRG0hGy1wJtp3N_91X2rp5Z49Xof37/s200/amelia+head.jpg" width="200" /></a>And then of course this time we had the added complication of my C-Section, so I was in more pain and not as mobile as I was with Francesca. It made for a stressful and scary time. I think the scariest (and most infuriating) moment was when Dawn and I went to the NICU to see Amelia and they were putting an IV in HER HEAD. She was screaming, there were two nurses and NO ONE was saying anything to me. I was terrified, I had no idea what was happening and I was helpless watching my baby scream. I soon learned her IV in her arm had gone bad and the head is one of the best places for babies - BUT no one told me that at the time. As you can tell, I'm still a little bitter. I understand they were just doing their job but a little communication would have been nice. Anyhoo....</div>
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhnCUfrop-Ss99_kIc9hNIBKmSHikx62lna8NJfmZUgkwmm_xoYF0RARnZr29inbbKXi7YW3NuUug1BWu6Kiy9Himq-c47gP5NE_EB9fMhWQVb6lzfgJKyrmHv67ZS_QBSNEKX0O4bLvOKB/s1600/Twins+newborn.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="1068" data-original-width="1600" height="133" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhnCUfrop-Ss99_kIc9hNIBKmSHikx62lna8NJfmZUgkwmm_xoYF0RARnZr29inbbKXi7YW3NuUug1BWu6Kiy9Himq-c47gP5NE_EB9fMhWQVb6lzfgJKyrmHv67ZS_QBSNEKX0O4bLvOKB/s200/Twins+newborn.jpg" width="200" /></a>On day three we got the results. Chris had just left to see Amelia in the NICU and I was pumping, when a doctor knocked on the door. Results were in - Amelia had Galactosemia. Annabelle didn't. I was prepared for this, I knew it was a possibility but it still felt like a punch in the gut. I cried, a lot. How in the hell was I going to handle one baby with galactosemia and one without. It seemed very scary and overwhelming.. And yet, I was also relieved. Relieved Annabelle (who at this point I was already calling "Annie" and constantly singing "Sweet Annie" by Zac Brown Band to) didn't have it and relieved to know that was likely the reason behind all the issues Amelia was experiencing. </div>
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjrl3MJKOitZNgesxHcHwXHNdbhVYTuyAi5-L1GDs3y8Hokc5qAiL_xNMh9_R65l-r20uY3d74VuiAOx8LUuoziDDFYGX-ADHhrY0Y6jwkRxgcuU1iBV3qtt-qGo3w0z6q8wbsNdA6l4_eG/s1600/amelia+lights.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="720" data-original-width="960" height="150" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjrl3MJKOitZNgesxHcHwXHNdbhVYTuyAi5-L1GDs3y8Hokc5qAiL_xNMh9_R65l-r20uY3d74VuiAOx8LUuoziDDFYGX-ADHhrY0Y6jwkRxgcuU1iBV3qtt-qGo3w0z6q8wbsNdA6l4_eG/s200/amelia+lights.jpg" width="200" /></a>Amelia was discharged from the NICU and we were able to have the girls together for the first time and a newborn photographer came in and took pictures. With most everything resolved, except Amelia's bilirubin, we were able to go home on May 15, with a light therapy blanket for Amelia. </div>
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As we settled in at home we started figuring out the formula situation. We purchased color coded name bands for bottles (blue for "anna blue belle" and orange for "agent amelia orange.” I have no idea guys - I was tired, and it <span style="text-align: center;">made sense and stuck!) We also bought two Dr. Brown formula pitchers - one for soy formula, one for dairy. Over the course of the next few months there would be several times I would dump a formula container because in my sleep-deprived state I wasn't totally sure if it was soy in the soy pitcher or dairy in the dairy pitcher. </span></div>
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The first metabolic appointment was at lot less scary and overwhelming than with Francesca. I didn't cry all the way home and although I still had moments of anger, sadness and uncertainty - I knew we could and would handle anything the condition threw our way. </div>
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As the girls started to develop, Amelia (Galacto Girl) hit the major milestones before Annabelle. She rolled first, crawled first, cut teeth first, walked first, talked first. If Annabelle would have been the one with Galactosemia I would have definitely thought it was the condition. I guess it made sense, she was "Baby A" - the first to be born, I guess she had to keep up the signature "Baby A" by being the first at everything! But it was just the case of kids developing and hitting milestones at different times. You notice it a lot more when you have two to compare. We do have Early On coming for visits monthly to watch for any delays, but at two years old, Amelia continues to exceed expectations. </div>
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We knew they weren't identical since one had a genetic condition and the other didn't - but they also didn't look identical. As they got a little older I had a couple moments of panic. I remember a time around their baptism that I started freaking out about getting them mixed up or other people mixing them up - and I labeled their diapers. 🤣 That lasted about a day. And of course when I went back to work and the nanny started I worried about her mixing them up, so I wrote down all the differences (Amelia had more hair, Annabelle was smaller, etc.)</div>
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Everything is still color coded. The name bands are now around sippy cups instead of bottles; Amelia has green sippy cups and Annie has blue and dishes are coordinated the same. Other than Vitamin D milk, Annabelle is eating what the big girl eats which means dairy-free mac and cheeze, pizza, etc. Some day we'll introduce her to the real stuff (and with our luck she won't like it), but for now with how they share and drop food, it's just not safe.<br />
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Francesca and Amelia are our Galacto Girls and Annabelle is our Dairy Queen. When I was pregnant with the twins, Francesca was obsessed with "Baby B" and that continued until recently. Now she is more drawn to Amelia, who is a little more loving toward her sister than Annabelle (who we lovingly refer to as "bulldozer baby"). Recently the twins started interacting and playing together more; it's fun to watch. It will be interesting to see how relationships develop and change as the twins get older. Of course the twins will have their bond but I expect Francesca and Amelia will also have a special relationship because of galactosemia. It's bound to be a fun (and exhausting) adventure. We hope you'll continue it with us. And I'll try to be better about updating the blog!<br />
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Jodiehttp://www.blogger.com/profile/04841239583690363022noreply@blogger.com0tag:blogger.com,1999:blog-4778548872703158762.post-7941464184108889742017-09-15T21:43:00.000-07:002017-09-15T21:43:21.013-07:00Galacto Girl Goes To PreschoolGalacto Girl Goes to Preschool? Well that doesn't seem right. Didn't I just do a blog post a couple months ago about Galacto Girl going to daycare? Oh that was a year and a half ago? Alrighty then...<br />
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So, September 5 Francesca had her first day of all-day Preschool. It was less than two weeks after we decided to see if it was even a possibility.<br />
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Chris and I had talked in passing a couple times about the fact that we should look into it. But it wasn't until less than two weeks before school started that I made the call. It was mostly prompted by my frustration and discomfort with daycare. While they have been wonderful to FJ and good about her dietary restrictions - there had been a lot of turnover with both the teachers in the rooms and the director and assistant director. I understand that turnover happens, but it felt like all the people who were there when FJ started - the people who really loved her and were aware of the Galactosemia were gone. And it was exhausting and worrisome wondering if the new teachers were up to speed and if the directors really understood the condition. So, it was a combination of that and the fact that I knew she was getting attached to her friends at daycare and it would be harder for her to leave in another year - I made the call.<br />
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They returned my call on Monday and said because they had just had a family withdrawal - they had one open spot. Sure felt like a "God thing." And that was just the first of many. We arranged for Chris to pick up the necessary paperwork and when he was at the school to pick up the paperwork the teacher was there. He was able to talk to her and explain FJ's Galactosemia. Then a couple days later my mom took Francesca for a walk to play at the park and see where she would be going to school. As they were reading the sign on the door a woman came to the door and asked if they needed anything. My mom explained Francesca was going to be starting Preschool there. It was Francesca's teacher - so she was able to meet her.<br />
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhawbAHGFR2dlZQOlqPJ12CGvkCEVnD6SR1rUCNctg9aVAZyRlnzu8lYSJKqVcZravr5STmRr8UblV8YErJCIJJkf59yCg8zoudMJrhMf72uCdWadQUtPk9PaNZTXgqsm-NTUdIChnuqdIT/s1600/FJ+preschool+orientation.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="960" data-original-width="720" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhawbAHGFR2dlZQOlqPJ12CGvkCEVnD6SR1rUCNctg9aVAZyRlnzu8lYSJKqVcZravr5STmRr8UblV8YErJCIJJkf59yCg8zoudMJrhMf72uCdWadQUtPk9PaNZTXgqsm-NTUdIChnuqdIT/s200/FJ+preschool+orientation.jpg" width="150" /></a>The only person who wasn't going to meet the teacher before school was mama. I was going to be out <span style="text-align: center;">of town for work for a few days. During that time Chris would take FJ to the orientation and have a one-on-one meeting with the teacher. I struggled with a lot of mom guilt, but I had work commitments and I knew I would be there for the first day of school, which was the most important thing. </span><br />
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The night before she started school I began to panic. I wanted to make sure they had information that explained FJ's condition. There were a few "teachers' guides" and other information online but most of them were for kids who had known delays, which she doesn't at this time, or very complex info. So it was a late night - but I created an overview document that explained the condition, FJ's journey, delays we were watching for, restricted foods and then a page of approved and not approved snacks, based on their calendar. Lunches wouldn't be a problem because she would bring her own lunch but some of the snacks were definitely off limits, so I made sure to cross off everything FJ couldn't eat and highlight the items she could, on the monthly calendar.<br />
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Francesca was super excited to start preschool. She would be going on Monday, Tuesday and Friday <br />
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all day (8:30-3:30) and then to after care until 6. She would still go to my parents' house on Wednesday and Thursday. We explained that she wouldn't be going to daycare anymore but she would have new teachers and meet new friends. She told us on several occasions that she was excited but "might be a little scared." Me too baby, me too. The first day drop off went very well. Francesca didn't cry at all...and mama mostly held it together. I worked from home that day and at 3:45 we got an email from her teacher with the subject "accident". Turns out our potty trained girl had pooped her pants during rest time...and she was wide awake.<br />
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Okay...probably just nerves and the new routine. Right? Got another email on Friday the first week - Madame Poops Her Pants had made a return - pooping her pants during rest time. What in the actual?! I was really afraid we were going to get kicked out. We talked about it with her and reminded her she needed to tell her teacher or an assistant when she had to go potty, she said she understood. LIAR LIAR PANTS ON FIRE (and full of poop). So, on Monday I refresh my email about every 3 seconds around the time we would get the poop alert - and finally we do - to let us know that she didn't have an accident. WOOT! I remember how when she was little and was constipated we would joke about a "poop party" when she finally went. I didn't ever think I would be having a "no poop party" when she was three. But, here I was - damn near ready to throw her a party for not pooping her pants.<br />
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But then Tuesday came. This was a little different because we didn't get an email from the teacher about it, in fact Chris did get one that said she didn't have an accident. But when I went to pick her up she was in different pants and I had a suspect stinky plastic bag to take home. Gagsville. So, I ask FJ when she pooped her pants. "I didn't poop my pants!" was the reply. "Well, I have a stinky bag of your clothes and some poop marks that tell me different." "NO MAMA, I DIDN'T POOP MY PANTS" - great Madame Poops Her Pants is now also a big fat (and angry) liar.<br />
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When she went back on Friday (today) I didn't have high hopes, mostly because I knew she hadn't pooped since Tuesday. And I was right...another email about her pooping her pants during rest time. NOW I'M PANICKING - it's week two and there is no improvement. How long can I keep telling myself that it is because of the new routine?! And although I don't remember seeing anything about kids needing to be potty trained, I know that is usually a preschool prerequisite. So, I reply to the teacher and pretty much apologize and ask if she's going to get kicked out. A response comes a few hours later - she has some ideas for what they can try over the next couple weeks and no, she's not going to be kicked out. SHOOOO - a huge sigh of relief for this mama. Her teacher mentioned maybe she doesn't like going with all the other kids in the bathroom - which hadn't really dawned on me but Chris noted that the bathroom at daycare was only a single stall, she didn't have to worry about others being there. Maybe that's the issue. So the teacher is going to wait until all the kids are down for rest time and then take her and see if that makes a difference.<br />
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I have to be honest. I've said a lot of prayers in my life - but I never expected to beg God to help my child not poop her pants. But here we are...on the third night (or more) of that prayer. And this is a doozy of one for him to take His time answering. I'm hoping next week is better and sooo thankful her teacher has been wonderful and understanding.<br />
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Overall the communication with the teacher has been amazing. Aside from the "your kid pooped herself again" emails, she also let us know a couple times when snack changed and Francesca was able to have it - or an email to tell us on the days when she couldn't have snack, what they substituted based on the allowed/not allowed list I provided them. It has all been very reassuring.<br />
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So next week will be week three. Really hoping it will be a poop-in-the-toilet-not-in-your-pants kind of week, but only time will tell. In the meantime, if anyone has any tips to help Madame Poops Her Pants, I'll take them. Also, I can't wait to show her this blog on her high school graduation. Unless she's still pooping her pants, then it won't be so funny.Jodiehttp://www.blogger.com/profile/04841239583690363022noreply@blogger.com0tag:blogger.com,1999:blog-4778548872703158762.post-71747159793947903852017-08-03T18:54:00.000-07:002017-08-03T18:55:33.771-07:00A Letter to Myself - July 15, 2014This is the time of year when Timehop and On This Day Facebook memories and pictures bring back the sadness, fear and uncertainty we experienced three years ago. We still face uncertainties including possible learning disabilities (yes, I know she's doing great now - but the galactose will continue to build up in her body and and could still cause long term challenges) and premature ovarian failure, among other things. But we have an amazing kiddo that I wouldn't change for anything - including her Galactosemia diagnosis. As Francesca's birthday approached I kept thinking of things I would have loved to know three years ago. So, I wrote a letter to my July 15, 2014 self.<br />
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Dear Me,<br />
<br />
<b>Things are about to get really scary.</b> When your skin-to-skin time is cut short, it will be just the beginning. You will question if you'll ever bring your daughter home. You will feel incredible guilt <br />
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhhrpI5qnSVMCDJRzxknbXJMPGnshYA_vP34jXRIXGa_s94NdmOEfXDgxEHvfeytSU7VaTNxI_AlqeaN4TzdXMZ_ytTl1olwztQyrXBeCF-P4TWBubTyb7nwMAjom4o1awTSqDO9Ttr8Rf1/s1600/IMG_4343.JPG" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="1600" data-original-width="1200" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhhrpI5qnSVMCDJRzxknbXJMPGnshYA_vP34jXRIXGa_s94NdmOEfXDgxEHvfeytSU7VaTNxI_AlqeaN4TzdXMZ_ytTl1olwztQyrXBeCF-P4TWBubTyb7nwMAjom4o1awTSqDO9Ttr8Rf1/s200/IMG_4343.JPG" width="150" /></a>when you return to the nursery after breastfeeding Francesca only to find out the very thing you thought was sustaining her would kill her. You will think you want to go home for a night only to make your husband turn around and take you back to the hospital because you would rather spend the night sharing a room with a stranger (divided only by a curtain) than spend the night at home, away from your baby. You will experience an emotional roller coaster that will include times of peace and hope and times of extreme sadness, fear and anxiety. But know this, your baby will be okay, you will be okay.<br />
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgZ-c-1JINzIEZsHmvFHNH8kvlTsHPrJPxmr-z3ZuzXg9_fqBOn1ryhiGkG69wFTYTt_s3iR7tpeqgN5qW7CxvaPymTvHo2Ugc6l21oy6p1e5cmjyXo-SspC5IyeQjWM3QAqehEpdRBHoG8/s1600/IMG_4462.JPG" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="1600" data-original-width="1200" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgZ-c-1JINzIEZsHmvFHNH8kvlTsHPrJPxmr-z3ZuzXg9_fqBOn1ryhiGkG69wFTYTt_s3iR7tpeqgN5qW7CxvaPymTvHo2Ugc6l21oy6p1e5cmjyXo-SspC5IyeQjWM3QAqehEpdRBHoG8/s200/IMG_4462.JPG" width="150" /></a><b>Don't push your friends away. </b>There are a lot of people who love you. And you need them. Reach out, ask for their prayers, cry with them. Let them come visit. After spending a couple days not talking to anyone about the situation - you will feel so much relief when your best friend comes to meet Francesca and you get away for a couple hours. People you haven't talked to in years will reach out to offer prayers and provide support. It will help. You will still remember who they were and be grateful 3 years later.<br />
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<b>Be wary of what you read on the Internet. </b>You will read A LOT. And most of it will be really scary - because it is worst case scenario. You will find good things too; A blog about two healthy girls with the condition, a Facebook group full of supportive people who have been in your shoes and will offer advice and support, and information about the conference that happens every two years (and is actually taking place in Florida while you are scouring the Internet for information about the condition). But there will also be out of date information, including dietary guidelines. And there will be conflicting information. And there will be a lot about worst case scenarios - read it, know it is a possibility and then move on. It could happen, it doesn't mean it will.<br />
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<b>Be prepared for information overload. </b>You will be terrified and anxious leading up to the specialist appointment. At the appointment you will meet with several different people who will provide so much information you will feel like your head will explode and you will never remember everyone and everything. You will leave feeling exhausted and overwhelmed. You will cry all the way home and not want to talk to anyone. Your husband will hold your hand and share in your grief. These appointments will not always be this way but your husband will continue to be your rock - strong when you are weak, positive when you are negative, patient when you are not. You will make a great team. (I realized as I'm typing this that I probably don't tell him that enough. Thank you, Chris! <span style="background-color: white;">xoxo</span>)<br />
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<b>You will learn more than you thought possible during the first year. </b>The first time you go to buy baby cereal you will call the dietitian in the aisle of Kroger to make sure it is safe because there are a couple ingredients you won't be sure about. You will be near tears because you're overwhelmed and think you'll never figure it out. And this will not be the last time - you'll put all of the dietitians phone numbers (3 to be exact) in your phone and will call them frequently as your child ages and is introduced to new foods. But, you will learn a lot - quickly. By the time she is two you will be able to easily read a label and spot unsafe ingredients. You will learn that the allergy statement is the first place to start and what to look for - but also know to read the ingredients, just in case.<br />
<br />
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjUrzr2vdfUEquwqtRJ6PKrPwnfj8mj6zxB2VI0SMTv9JNdWD96TQXUTw2tCRUcndU7y58Z4Bm7QOCoYtPgYf03pZpxneGt5ybf48cTYgl12ghGNmk6dqXn7Nh6RHrsXfvU1g5iEZr994BG/s1600/FJ+3+years+birthday.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" data-original-height="1080" data-original-width="719" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjUrzr2vdfUEquwqtRJ6PKrPwnfj8mj6zxB2VI0SMTv9JNdWD96TQXUTw2tCRUcndU7y58Z4Bm7QOCoYtPgYf03pZpxneGt5ybf48cTYgl12ghGNmk6dqXn7Nh6RHrsXfvU1g5iEZr994BG/s200/FJ+3+years+birthday.jpg" width="133" /></a><b>Stay positive and pray. </b>This child is the best thing you have ever made. Enjoy her. Don't spend your life worrying. Nothing good comes from worrying about something that might never happen. And if it does happen, it won't help to have wasted days, months or years worrying about it. You will have good days and bad days, days filled with anxiety but more filled with hope and joy. Pray. Know that even when the future seems scary and uncertain for you, it is not for God. He's got this. Remember, Francesca is a child of God, and He doesn't make mistakes. She is exactly who He meant for her to be. Find peace in that and walk by faith.<br />
<br />
Love,<br />
Me<br />
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p.s. I might also include - you're not going to completely change your diet, removing all dairy, and get super skinny like you might think. You will make simple substitutes (dairy free butter, bread, marinades, etc.) when they are available, but for the most part you will put the cheese and other dairy ingredients on the side and teach Francesca from an early age what she can and cannot have and to ask if something is "safe" for her, before she eats it.<br />
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<br />Jodiehttp://www.blogger.com/profile/04841239583690363022noreply@blogger.com0tag:blogger.com,1999:blog-4778548872703158762.post-66565842402356029842017-02-28T19:03:00.000-08:002017-02-28T19:10:54.097-08:00Celebrating Galacto Girl on Rare Disease Day, and Every DayIt's Rare Disease Day - the perfect time to give an update and celebrate our Galacto Girl. We had our appointment with the Metabolic specialist the beginning of November. As always, they tested her Gal1P, the amount of galactose in her blood. They want the number to be under 4. It had been under 4 for the last couple appointments so I was hopeful. This time it came back right at 4. They aren't concerned because she is doing so well and said it could have just been what her body was producing that day and not related to anything she ate. They didn't recommend a recheck so we will get it checked at her next appointment...which won't be until next fall. We only have to go back yearly now. Yay!<br />
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We also found out her Vitamin D is low. Not surprising since our strong-willed sassbox refuses to drink any kind of milk substitute (coconut milk, almond milk, soy milk...we've tried them all). The doctor prescribed chewables for her but trying to get the prescription filled has been a nightmare. Insurance wouldn't cover it because she's not over 65. Then I found out it was like $6 for the prescription so told them to order it and I would pay out of pocket. Then they couldn't find it in the amount the doctor was prescribing. After several trips and calls to the pharmacy, I finally gave up and went shopping. After trying Whole Foods I found them at GNC. Brought them home and....she hates them. GAH. I called the Metabolic clinic back and asked for drop recommendations. So, I will be ordering those and hope they do the trick to get her Vitamin D where it needs to be. Other than that, the appointment was great. She is great. Just the same caution of "delays usually don't show up until around school age."<br />
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We often talk to FJ about being a Galacto Girl and having Galactosemia. It's a struggle to figure out how to make your two and a half year old understand that although sharing is very important - she cannot share food if someone offers it to her. I know it will be easier as she gets older but we will continue to have the conversation.<br />
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And then there are things she definitely understands...like how to turn our own words on us. So we often say "that's not safe for you" or "we have to make sure that's safe." Well a couple weeks ago miss smarty pants was eating her dinner and decided she was done. She pushed her plate away and looked at me and said, "No mama. Can't. It's not safe for me." :/ AHHHHHHH. I assured her that her mama would never give her something that wasn't not safe for her. Oh boy...we're in for it.<br />
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In other news - Francesca will be having tubes put in her ears next Wednesday, March 8. In the last year she has had a couple double ear infections and several single ear infections. At a recheck for the last one the doctor found that although the infection was cleared up there was still fluid in her ears. We went back two weeks later and it was the same, so they sent us to a specialist. They said her hearing is probably impacted to some degree, so hopefully the tubes will help. I know it's a simple procedure but am still anxious, of course. Prayers are appreciated!<br />
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She is a rare kid - in more ways than one (I mean, have you met her parents? Especially her dad...) but I wouldn't change her for the world. She is by far the best thing I have ever done.Jodiehttp://www.blogger.com/profile/04841239583690363022noreply@blogger.com0tag:blogger.com,1999:blog-4778548872703158762.post-40417789350912700712017-01-07T06:02:00.000-08:002017-01-07T06:02:05.352-08:00Conference Recap Five months after the conference seems like a good time to post an update. Whoops. Let's see if I can remember...<br />
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The conference was much like I expected. There were times I felt very hopeful and other times that I felt lost and terrified. But overall, it was a wonderful experience.<br />
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We met a lot of great people and learned a lot of tips for managing the condition. Two of the sessions stand out to me. One as a high and one as a low.<br />
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The low: P<span style="background-color: white; font-family: "times new roman" , "stixgeneral" , serif; font-size: 15.9991px;">remature Ovarian Insufficiency</span>. Bottom line, most women with Galactosemia (80-90%) have POI in some form making it unlikely (but not impossible) to have children. They said the best chance of a woman with Galactosemia to get pregnant is to do IVF with donor eggs because they have lower egg count. With that said, I know research is continuing and we have years before we have to really think about that.<br />
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The high: A presentation by a mother of two boys with Galactosemia about the importance of self esteem. She talked about everyday events that can be challenging for our kids and the importance of helping them believe in themselves so they can rise to any challenge. She also gave some great tips such as putting green and red stickers on all the food in the house - that way if a family member or babysitter comes over, they will know what is safe. It's also an easy way for the child to know what they can and can't have. She also talked about the importance of having the kids start asking questions and talking to the chef when you're out to dinner, at an early age. This will allow them to learn what questions to ask and how to explain the restrictions since as she said, some day mom won't be with them. It was also encouraging to later hear from both of her sons who are in college and doing well.<br />
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We also got to meet Dr. Fridovich-Keil who does Galactosemia research at Emory University. I had enrolled Francesca in a study with her lab so it was great to meet her and learn more about the research. We also enrolled FJ in another study.<br />
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEi_7TC960VJKMyJWjfeL7rJD0AilHDWfnNIIgi-mOF9l7jz_08D0K-DneyXCbrFNvF8tguDspKKOLewb_LSJtVb7hfqb4E7W7J5MZEiYWv2wR8U_8sD4HfauGnilbea14HZLutc5B3zafA3/s1600/FJ+conference.jpg" imageanchor="1" style="clear: left; margin-bottom: 1em; margin-left: auto; margin-right: auto;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEi_7TC960VJKMyJWjfeL7rJD0AilHDWfnNIIgi-mOF9l7jz_08D0K-DneyXCbrFNvF8tguDspKKOLewb_LSJtVb7hfqb4E7W7J5MZEiYWv2wR8U_8sD4HfauGnilbea14HZLutc5B3zafA3/s320/FJ+conference.jpg" width="213" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">FJ celebrating her birthday at the conference</td></tr>
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One session has really stuck with me. A mom shared her story of refusing the newborn screen. As I have talked about before, the newborn screen is the reason Francesca is with us today. She was diagnosed because of the newborn screen - a simple heel poke - at 3 days old. I learned that there are people who actually petition against the newborn screen. The presenter shared her story of being approached by a nurse who claimed the newborn screen was a violation of privacy and it would allow the government to have the child's DNA. After talking with the nurse and not being aware of any genetic issues in their family, she signed the Parental Refusal of Newborn Screen. After her son was born her nurse (different nurse than previously mentioned) encouraged her three different times to get the newborn screen. After the third time, she agreed and because of the test found out her son had Galactosemia. Thankfully it was caught in time and he is now a healthy 7 year old. Her story made me realize I need to be a vocal supporter of the newborn screen. I need to share my story. I hate to think about what could have happened if we hadn't done the newborn screen and it is heartbreaking to me that people would advocate against a non-invasive and potentially life-saving test.<br />
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiamQdMDue_qHShIzCMHrW4gRMITM7aawuezPo_z5WXacZDr0mt6oasY8cT915-G4JFDK-pcTciwy3mjUKbsc4Z4SbqC1AnWsbkVPMkeQQI6CLyN_elawH1UafhSj_GbMHLjvoqh4JKKsPR/s1600/FJ+conference+2.jpg" imageanchor="1" style="clear: left; margin-bottom: 1em; margin-left: auto; margin-right: auto;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiamQdMDue_qHShIzCMHrW4gRMITM7aawuezPo_z5WXacZDr0mt6oasY8cT915-G4JFDK-pcTciwy3mjUKbsc4Z4SbqC1AnWsbkVPMkeQQI6CLyN_elawH1UafhSj_GbMHLjvoqh4JKKsPR/s320/FJ+conference+2.jpg" width="169" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Apparently she thought it was okay to take <br />
all the balloons, since it was her birthday!</td></tr>
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The speaker also shared the poem "<a href="http://www.our-kids.org/Archives/Holland.html" target="_blank">Welcome to Holland</a>" - written by a mother of a special needs child. I've also read other special needs parents talk about why they don't like the poem. Personally, I really related to it. It left me in tears and still does.While we have been very fortunate so far and Francesca is not experiencing any delays, we know we could still have a long road ahead of us. And it's not what any parent expects or wishes for. It reminds me of when I blogged about how everyone tells you to have a birth plan but also warns you it might not go as planned but no one tells you your after birth plan might not go as expected.<br />
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We learned a lot at the conference. We met some new friends but didn't meet as many people as I had hoped. It was hard because they had activities at night but they started at the same time as FJ's bedtime so we didn't attend them.<br />
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The next conference is in 2018 in Denver, Colorado. We'll definitely be flying to that one. Oh - that's another thing I learned - driving to Georgia with a toddler is a questionable decision. Actually, the drive there wasn't the problem, but when we were driving through the mountains on the way home and FJ was screaming "OUT...I WANT OUT" at the top of her lungs, I briefly considered strapping myself to the roof of the car. Instead, after we were out of the mountains Chris frantically searched for the nearest park, which we immediately went to and let Francesca play before continuing the drive.<br />
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I'm looking forward to the 2018 conference and am currently brainstorming some fundraising ideas we can do to support the cause. Stay tuned.<br />
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<br />Jodiehttp://www.blogger.com/profile/04841239583690363022noreply@blogger.com0tag:blogger.com,1999:blog-4778548872703158762.post-30665430907420237492016-07-12T18:33:00.000-07:002016-07-12T18:39:11.815-07:00And We're Off - Galactosemia Conference Bound Atlanta here we come! An adventure for Galacto Girl (and her mama and dad) to be sure. The Galactosemia conference, which is held every two years, kicks-off Thursday evening and continues through Saturday.<br />
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The first time I learned about the conference was three days after Francesca was born. I was feverishly searching for answers about this rare and terrifying diagnosis and found all kinds of information about the conference, which was underway in Florida. Soon after we decided that spending her birthday at the conference every other year would be a cool tradition (and get mama out of a birthday party). :)<br />
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While I am excited about the conference, I am mentally preparing myself for a couple of emotional days and information overload. At the last conference they announced several updates to the dietary guidelines. By the time we received the dietary guidelines book, a few weeks after Francesca was born, it was already out of date. They were now allowing legumes, hummus and even certain aged cheeses! I'm looking forward to learning the latest and greatest about the research findings. But I also know there might be information that's difficult to hear. We'll be meeting many individuals with Galactosemia which could include a range of complications. With not knowing how this condition will impact FJ long-term, I'm not sure if meeting others will be encouraging or discouraging, but I anticipate a little of both.<br />
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The conference offers a variety of break-out sessions. Chris will be going to the more "science behind the condition" sessions and I will be attending the ones geared towards managing the condition and possible side effects.<br />
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Now the question is - will I regret our decision to drive instead of fly? So far so good - but we're only three hours into our multiple day drive. Ask me on Thursday afternoon and I might have different feelings.<br />
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<br />Jodiehttp://www.blogger.com/profile/04841239583690363022noreply@blogger.com0tag:blogger.com,1999:blog-4778548872703158762.post-12330549135266390882016-03-07T05:14:00.004-08:002016-03-07T05:24:15.130-08:00Galacto Girl Goes to Day Care: Week 1 RecapWe're 10ish hours away from week two of day care and I don't feel any better than I did last week. I might be dreading it more. Week one was not good...and that's putting it mildly.<br />
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjwLqSHhHV0Zm_An0mstvpekaywIcfgnZYu7l22BVKL5ItTXkKZeYRbLTCQBZ8rFuGA5DxYymKc2qWKGrzA_NnZqoR6o7ULNYKVNotxE-BP1JcXP0HzRvgZ5mBFEFK9pq3sqxYTtv4hnE2C/s1600/FJ+day+care+no+dairy+shirt.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjwLqSHhHV0Zm_An0mstvpekaywIcfgnZYu7l22BVKL5ItTXkKZeYRbLTCQBZ8rFuGA5DxYymKc2qWKGrzA_NnZqoR6o7ULNYKVNotxE-BP1JcXP0HzRvgZ5mBFEFK9pq3sqxYTtv4hnE2C/s200/FJ+day+care+no+dairy+shirt.jpg" width="112" /></a>When I dropped Francesca off on Monday she was very clingy, as to be expected. We put on her Dairy: I CAN'T EVEN! shirt that Shelby made and I went over the menu with her teacher. Once she started playing I slipped out. </div>
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I got teary eyed on my drive to work but was feeling okay. We have access to a live camera feed so I could check-in throughout the day. I was quite surprised to find out that nap time was just a bunch of mattresses scattered across the room. I laughed out loud thinking there was NO WAY my kid was just going to lay down and go to sleep. Watching the poor teacher get four (maybe five) kids to sleep was painful to watch. She would have had better luck herding cats. She would get one kid asleep (or so it appeared) and move on to the next, only to have the last kid come over and interrupt the progress she was making. Like I said, painful (and a tish entertaining). But, miracles do happen and FJ fell asleep! </div>
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjvCYDsRSoTFyhvKQAK483UTkfwSKklK-qahABqN-Hy_sOikOzTv6USU36Ma9NY8pNI0ouzVKOe5tStvNNKp46O6AioL4HoLWM6gcOfBrTL6YYnflv4OcERih04mjNClatFSye3Zg1Ds-CV/s1600/FJ+day+care+prep.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjvCYDsRSoTFyhvKQAK483UTkfwSKklK-qahABqN-Hy_sOikOzTv6USU36Ma9NY8pNI0ouzVKOe5tStvNNKp46O6AioL4HoLWM6gcOfBrTL6YYnflv4OcERih04mjNClatFSye3Zg1Ds-CV/s200/FJ+day+care+prep.jpg" width="200" /></a>I noticed later in the day that Francesca was carrying her blanket EVERYWHERE. Great, my kid is Linus from Peanuts. Not only that, she went on a hunger strike. When I picked her up I found out she didn't eat anything but a few crackers, all day. When we got home she refused to eat dinner and just sat on my lap and watched TV, clearly exhausted. This is the time of night when she was usually running circles around the living room. </div>
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About 9:30 p.m. she started fussing. I wasn't going to check on her at first but changed my mind...thank God. I went upstairs and she was laying on her back throwing up and choking. It was terrifying, to say the least. After a quick bath she went back to sleep but that's when the panic really set in for us. Our first thought...she had eaten something with dairy. I knew she hadn't really eaten so could she have grabbed someone else's cup with dairy milk instead of her almond milk? It seemed feasible and since she had never thrown up before, I didn't know what else to think. </div>
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I called Tuesday morning and her teacher assured me that she didn't have any dairy. Miss Heather sat next to her at breakfast and lunch time. Francesca was acting fine when she woke up so we decided maybe it was just nerves from the new situation and not eating and took her for day two. When I picked her up they said she had been sad in the morning but was much better after her nap. And she ate! Small victories. The note summarizing her day said she had been "talkative", so that was a good sign. Every time I looked at the video she was carrying around her blankie though. Linus, for real. </div>
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Tuesday night was seemingly better. She was still much more tired than usual but she did eat her dinner. A little after 6 a.m. on Wednesday morning she threw up again. Thankfully we had a doctor's appointment already scheduled to make sure her ear infection was cleared up. The doctor assured me there was a lot going around and recommended not going crazy about the dairy. I couldn't help but think it was weird that it was only happening while she was sleeping and only one time each night but again she said that was pretty normal with kids that either just get a slight case or are at the end of an illness. I tried to not worry but all I could think was she was a stress puker and she was not adjusting well to day care. And the fear of her consuming dairy was still nagging at me. I cried the entire drive to work. I hated that I didn't know what was causing her to be sick and couldn't help but wonder if this would be the rest of our lives every time she got sick. What was the cause...stress? dairy? the flu? </div>
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Wednesday she was with Grandma and Grandpa and we made it through the night without puking. I think I was equal parts relieved and worried. Relieved that we made it through the night, worried that it was the stress of day care and that she would end up throwing up Friday night. But we didn't make it that far because Thursday night it happened again...and it was the worst yet. Poor kiddo. Grandma volunteered to come over Friday so not only no day care but FJ could also spend a day at home. When I called the day care to let them know Francesca was sick they asked what her symptoms were. Turns out there had been a lot of kids out with the flu. So again a combination of relief/worry. Relieved it wasn't dairy-related, frustrated that our first week of day care and she gets sick. This was one of my major negatives on my pro/con list of day care vs. in-home care. I mean, I know sickness happens but THE FIRST WEEK?! </div>
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So...it was a long and stressful week filled with not a whole lot of sleep and more than enough worry. Although she hasn't gotten sick since Thursday night she still isn't her usual happy self - she's not eating and has been extra clingy all weekend. I'm a little on edge about her going back tomorrow with how she acted this weekend but I know it's inevitable.<br />
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All I can do is hope by Friday we will have made it through illness free and a little more adjusted to the new routine. I mean, the first week set the bar pretty low...things can only go up from here, right?!</div>
Jodiehttp://www.blogger.com/profile/04841239583690363022noreply@blogger.com0tag:blogger.com,1999:blog-4778548872703158762.post-10394326295299667942016-02-22T20:02:00.000-08:002016-02-22T20:07:09.371-08:00Galacto Girl Goes To Day Care<span style="font-family: inherit;">I am long overdue in an update on our Galacto Girl, I know. I had good intentions of posting a 1 year update. How are we over halfway to 2 years?? Then I was going to wait until our appointment at the Metabolic Clinic on Wednesday, but since I have a topic on my mind, here we go.</span><br />
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<span style="font-family: inherit;">Two weeks ago I got a text from our babysitter saying she had taken a full-time job at a day care. I felt a lot of emotions...but mostly dread. I dreaded the thought of finding another babysitter and teaching them the ropes, knowing we would most likely continue to have turnover since it isn't a full-time position. I posted the job on Care.com but started wondering if it was time for day care. As much as I love the security and flexibility of in-home care, we knew FJ would enjoy and benefit from going to day care. When Shelby told me where she was going I began looking into it. I was very impressed from the website... I actually figured it would be out of our price range. Thankfully, that wasn't the case. The rooms are separated by age and filled with age-appropriate learning toys. FJ's room already does some circle time and has a routine. </span><br />
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<span data-offset-key="e3o8k-0-0" style="background-color: white; line-height: 18px; white-space: pre-wrap;"><span data-text="true">So, after 16 months of our </span></span><span class="_5u8n" data-offset-key="e3o8k-1-0" spellcheck="false" style="background-color: rgba(88, 144, 255, 0.14902); border-bottom-color: rgba(88, 144, 255, 0.298039); border-bottom-style: solid; border-bottom-width: 1px; line-height: 18px; white-space: pre-wrap;"><span data-offset-key="e3o8k-1-0"><span data-text="true">Galacto Girl</span></span></span><span data-offset-key="e3o8k-2-0" style="background-color: white; line-height: 18px; white-space: pre-wrap;"><span data-text="true"> being cared for in our home by a babysitter who knows what is safe for her to eat, we are venturing out into the big scary dairy-filled world (aka: daycare). I'm terrified but excited for her to have daily interaction with other kids. We took a tour on Friday and discussed her dietary restrictions with the Assistant Director. Today I talked to the Director and she actually checked food labels for me so we could determine what FJ will be able to eat there and when we will have to bring substitutions. </span></span><br />
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<span data-offset-key="e3o8k-2-0" style="background-color: white; line-height: 18px; white-space: pre-wrap;"><span data-text="true">I still have a lot of questions but I am feeling better about it. Most of the time. Come next Monday I feel like I will be more of a wreck than I was when I returned to work after maternity leave. </span></span><br />
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<span data-offset-key="e3o8k-2-0" style="background-color: white; line-height: 18px; white-space: pre-wrap;"><span data-text="true">Then I remind myself that she's going to have to go out into the big scary dairy-filled world someday. I need to trust that armed with the correct information babysitters, caregivers, parents and teachers will keep my child safe and healthy. You can bet I will be printing out and taking Galactosemia information, ingredients she can and can't have and explain FJ's condition and the importance of avoiding dairy to every employee in the day care. And then I will have to take a deep breath and trust (and probably offer gentle reminders on a regular basis). :)</span></span><br />
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<span style="background-color: white; line-height: 18px; white-space: pre-wrap;">As for FJ, she's thriving. She talks non-stop and imitates everything (which is a tad terrifying for mama and her sometimes questionable language). We'll be going to Detroit to see the specialist on Wednesday. They will take her GAL1P which determines the amount of the galactose in her blood stream. They say lower is better and want it under 4 (it was 2.9 last appointment) but we also know that low levels don't necessarily mean a challenge-free future. I expect the doctor will comment on how great she's doing but caution that many of the delays won't show up until preschool age. It's always a long, emotionally draining day, but not nearly as scary and overwhelming as our first trip - and for that I'm grateful. </span><br />
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Jodiehttp://www.blogger.com/profile/04841239583690363022noreply@blogger.com0tag:blogger.com,1999:blog-4778548872703158762.post-60013514548365591662015-04-10T12:01:00.002-07:002016-10-27T18:28:14.822-07:00FAQs According to JLSAs we shared Francesca's diagnosis with people we began receiving a lot of questions. I've compiled a list below.<br />
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Q. Will she grow out of it?</div>
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A. No. It is genetic. Her body does not produce the GALT enzyme necessary for breaking down the sugars in dairy.</div>
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Q. How did she get it?</div>
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A. Both Chris and I are carriers. Which means we both have a working copy of the gene and a non-working copy. We both passed on the non-working copy to Francesca.</div>
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Q. What are the chances our other kids will have it? </div>
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A. There is a 25% chance they would have Classic Galactosemia (like FJ). There is a 50% chance they would be a carrier (like Chris and I). There is a 25% chance they would have no form of it at all (if Chris and I both passed on the working copy of our genes). And yes, God willing, we will have more children. If I'm being completely honest, when we first learned about the diagnosis I thought we were going to be one and done. But after some time and talking to Chris, I realized I want Francesca to have a sibling and if she ever asked me why she doesn't, I couldn't imagine telling her it was because of the condition she has. </div>
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Q. Since they caught it so early does that mean she won't have any long term issues?</div>
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A. No. While it is a blessing it was caught so early and we were able to avoid damage to her organs, it does not necessarily mean an obstacle free life. Her body produces Galactose, the very thing that she does not have the enzyme to break down and therefore there will be a build up of it in her blood. This build up is what can cause the potential problems. It could be years before we know what kind of long term effects she will have, if any.<br />
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Q. What are the possible complications?<br />
A. Cataracts; Learning disabilities including:speech and language difficulties, fine and/or gross motor difficulties, and difficulty with math or reading; Neurological Impairments including: gait, balance, and fine motor tremors; Premature Ovarian Failure - they will start testing her around 9 years old; Speech Disorders. </div>
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Q. Is there a medicine for it? How is it treated?</div>
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A. No, there is no medicine. The only current treatment is diet. She cannot have any type of dairy or foods containing galactose. Galactose is found in many processed foods so reading labels will be key. Many fruits and vegetables contain galactose but they don't restrict them because the health benefits outweigh the risk.<br />
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Q. How often does she go to the doctor?<br />
A. She sees a metabolic specialist in Detroit every 3 months. When she turns 1, we will start going every 4 months. Every visit they draw blood to see the level of galactose (Gal1P). They want the number to be under 3.5. Her last visit (December) it was 4.6, so not as low as they want. Considering it was 85 when she was born, we're heading in the right direction. She also sees a pediatric eye doctor every 3 months. So far her vision has been great and the eye doctor has no concerns.<br />
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Q. What can't she eat?<br />
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEidynLOK2w2-TWOO17dhjylaL7v3qKr_37NwVimAcrWX2t_w47xhgQuy0LbY5ijwyl_7NSFSjKTaX76C3k0Rh4sTOAFWg8BJqhJQb7X8PE7Q4P4rTzNR0VylVmS8AfpPSMilZUQty3WqGuZ/s1600/FJ+sweet+potatoes.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEidynLOK2w2-TWOO17dhjylaL7v3qKr_37NwVimAcrWX2t_w47xhgQuy0LbY5ijwyl_7NSFSjKTaX76C3k0Rh4sTOAFWg8BJqhJQb7X8PE7Q4P4rTzNR0VylVmS8AfpPSMilZUQty3WqGuZ/s1600/FJ+sweet+potatoes.jpg" width="200" /></a>A. Anything that contains dairy (milk, cheese, sour cream, butter, yogurt, etc.) Thankfully there are a lot of dairy free versions of these products available (and I am making lists). She also cannot have Whey, Sherbet or Organ meats (often displayed as "meat byproducts" on labels - no problem there...ick).<br />
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Q. What can she eat?<br />
A. Since her diagnosis she has been on Soy formula. As for baby food, she can have all fruits and vegetables. As I mentioned earlier, they do contain small amounts of galactose but the benefits outweigh the risks. She will be allowed to drink soy milk, almond milk, rice milk, etc. Legumes used to be restricted but aren't anymore. Our clinic still does not allow garbanzo beans (chick peas) because of their high galactose content. Some clinics/doctors vary in their restrictions.<br />
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More info: <a href="http://galactosemia.org/PDFs/UnderstandingGalactosemiaDietGuide3.pdf">http://galactosemia.org/PDFs/UnderstandingGalactosemiaDietGuide3.pdf</a><br />
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Jodiehttp://www.blogger.com/profile/04841239583690363022noreply@blogger.com0tag:blogger.com,1999:blog-4778548872703158762.post-78276985953790193702014-11-20T06:51:00.000-08:002014-11-20T06:52:38.239-08:00The Seven Day Eternity When I was pregnant I kept hearing and reading that I should have a birth plan. I leaned over to Chris during our hospital tour and said "my birth plan: get this baby out...and give me drugs." I also read that you shouldn't expect your birth plan to go off without a hitch. What I wish someone would have told me was to not expect my "after birth plan" to go off without a hitch. In our birthing classes the nurse talked multiple times about how once the baby was born they would put her on me for two hours of skin to skin time and then we would try to breastfeed, and she would stay in the room with me. Why didn't anyone tell me that might not happen?<br />
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Day 1 - July 15<br />
Francesca Jo was born at 6:26 a.m. and they did put her directly on my chest. I stared in awe, we took pictures, and for a few minutes things were perfect, we were right on track. Then things changed. Drastically. They were worried about her labored breathing and after calling additional people in the room to examine her, they took her to the nursery. She was put on oxygen, did a<br />
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEieahVi5Gu7qnKaw2s17REodsyAwmwC5ctQ2XJ7wvH8_imSeaGMr3gBDqpUYUYQcV8haGK21D5yGjLwwhLxJzloHT3U-utlOrlGqTCCISl4lzMoij9arm5GFeoLpPWFdUPsfYcuUMwhtaC-/s1600/IMG_4343.JPG" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEieahVi5Gu7qnKaw2s17REodsyAwmwC5ctQ2XJ7wvH8_imSeaGMr3gBDqpUYUYQcV8haGK21D5yGjLwwhLxJzloHT3U-utlOrlGqTCCISl4lzMoij9arm5GFeoLpPWFdUPsfYcuUMwhtaC-/s1600/IMG_4343.JPG" height="200" width="150" /></a>chest x-ray and ran blood tests. The chest x-ray showed haziness, they said it could just be access fluid from birth but they would treat it as worst case scenario (pneumonia). And she had to stay in the nursery until her oxygen levels went up. The test results also showed she had low blood sugar. When they tried to feed her, she was unable to keep it down so they started gavage feedings. By the end of the day 1 our baby girl was hooked up to oxygen, had a "club" hand for the IV and had a tube down her nose for the gavage feedings. It was a rough day for all.<br />
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Day 2 - July 16<br />
A new day, full of so much promise. They were removing the tube to try and breast/formula feed. If she kept the food down and her blood sugar levels stayed normal, she would be able to come in our room. If. If. If. They did a repeat chest x-ray and the fluid had cleared up. One step in the right <br />
direction! But...white blood cell count was still low, so she would be on antibiotics for another 24 hours. Her blood sugar was also still low. Another night in the nursery.<br />
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Day 3 - July 17<br />
One step forward, two steps back. That's what it started to seem like. Every time we would get one issue on the right track, something else would surface. On day 3 that something else was her bilirubin. Her blood sugar was good so they were going to start weaning her off the IV. But the elevated bilirubin meant she would need to go under the lights and could only come out for 30 minutes to eat. Considering we already had limited time with her since she couldn't be in my room, this was heartbreaking. And I was supposed to be discharged. How was I going to go home without my baby? Thankfully they had empty beds and said I could just stay in the room. There would be no more vital checks, no more free food, but I would have somewhere to stay so I didn't have to go home without Francesca, for now.<br />
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The good news was, with her being off the IV she could come to my room to eat. It was our first glimpse of freedom, but I knew I had to be quick because the lights were waiting. I felt hopeful but sad as I took her back to the nursery. Little did I know everything was about to change. As we entered the nursery one of the nurses was on the phone. It was Francesca's doctor, and he wanted to talk to me. "Everything is okay," he said, "Francesca is fine..." I wasn't sure I was believing that. Then he continued..."but the newborn screen test showed that she tested positive for something called galactosemia, her body does not have the enzyme necessary to break down the sugars in dairy." He explained that it was treatable by diet and we were very lucky to find out so early because many babies die before they ever know something is wrong. Then he said something that rocked me to the core, "stop breastfeeding immediately." I had just experienced so much joy from having her in my room and breastfeeding her. And then I realized an act I was so excited about and thought was giving my baby life was poisoning her. That was a lot to wrap my head around. I took some notes and headed back to my room to share the news with Chris.<br />
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Honestly, at this point I wasn't feeling terrible about it. The doctor made it seem like since we caught it so early, it would be fine. She just wouldn't be able to have dairy and other foods that contain galactose. Didn't seem so bad. Only, that was the simplified version. We soon found out there was much more to it. Damn Google. Chris started to relay the information to me, I didn't want to hear it. Things like "learning disabilities", "liver failure", "premature ovarian failure". At this point I pretty much went silent. Even my best friends weren't hearing from me. I felt bad but I wasn't ready to talk about it. It made me sick to think about. Why? Why was this happening? My mind started to race, and so did my heart. I started feeling like an anxiety attack was around the corner. Thankfully, I had not yet been discharged. The nurse brought me some meds to help me relax and sleep. It was still a pretty restless night.<br />
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Day 4 - July 18<br />
This day is pretty much a blur to me. I cried a lot, I remember that. She was still under the lights for most of the day so I couldn't see her much. By that evening her bilirubin was better and her weight had went up a little bit. And I was finally ready to talk, my friends needed to know and I needed them- so I made some phone calls. Small steps.<br />
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Day 5 - July 19<br />
It was never ending. The worst roller coaster ride of my life. Some of her blood tests came back concerning. Specifically her ATTP level which could indicate a clotting issue. Immediately I went back to what the doctor said when we found out about the galactosemia, "some babies bleed out and you never knew anything was wrong." This can't be happening. Thankfully, it wasn't. But they were concerned and did a scan of her head to rule out a brain bleed. They checked her liver panel and that was perfect. Her bilirubin had stabilized. But we weren't going home until they figured this out. What was this, set back 583?<br />
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I had to leave the hospital. As much as I appreciated the room, I had to get out. Thankfully the hospital has an "Ellison room" for moms to stay overnight when they had been discharged but their babies hadn't. I reserved one of the beds (two in a room, divided by a curtain) and Chris and I headed home for a little bit. Big.Mistake. It was awful. Walking into the house filled with Francesca's swing, Francesca's pack and play, Francesca's books. And no Francesca. I lost it. It wasn't right to be there without my baby. It wasn't the plan. And I started to fear I would never bring her home, that she would never experience any of the things waiting for her or the dreams I had for her. It was probably my darkest moment; all I could do was cry.<br />
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We stayed long enough to take showers, have some food and pack new clothes and then headed back to the hospital. There was nowhere else I wanted to be. And once I had Francesca in my arms, I felt better. The only time I really felt at peace was when I was holding her. It was hard to look at her and think she was anything other than a perfectly healthy baby girl.<br />
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Day 6 - July 20<br />
Her bilirubin was back up, so back under the lights she went. They came to take her blood to recheck the ATTP and couldn't get it. She was screaming. And they were talking about repoking. Tears <br />
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgleQQ2TccXQiG2TlQN97xayRezf68_rHUdfc2nfK3_uxPXrXE8FwPitEqUsRswNFyDwbq46TiPpM48j_u-m9uKaB02aFpEDJaWwxj2xVmT1Ash5YXGpIqsp_GCAfx2DuWDQni2wRRmlSSI/s1600/IMG_4462.JPG" imageanchor="1" style="clear: right; margin-bottom: 1em; margin-left: auto; margin-right: auto;"><img border="0" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgleQQ2TccXQiG2TlQN97xayRezf68_rHUdfc2nfK3_uxPXrXE8FwPitEqUsRswNFyDwbq46TiPpM48j_u-m9uKaB02aFpEDJaWwxj2xVmT1Ash5YXGpIqsp_GCAfx2DuWDQni2wRRmlSSI/s1600/IMG_4462.JPG" height="200" width="150" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;"><span style="background-color: white; color: #141823; font-family: Helvetica, Arial, 'lucida grande', tahoma, verdana, arial, sans-serif; font-size: 13.63636302948px; line-height: 17.5636348724365px; text-align: left;">Dear Jesus, I'm ready to go<br /> home from the hospital now. <br />Praying you can make it happen.<br /> Love, Francesca</span></td></tr>
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streamed down my face, I had to walk away. Finally they called a nurse from the NICU. I couldn't help but be concerned when she came in. She had to be 75. My mom reassured me that meant she had lots of practice and here's where I apologize. She was great and got it on the first try. But the results still came back elevated. They had the hospital hematologist come and evaluate Francesca. She told me she was concerned about the level but didn't see any signs of internal bleeding. She also told me that the results can be skewed by a hard blood draw. HELLO, that is all they have had. She mentioned an artial stick but they don't recommend using that method with someone who might have a clotting disorder. I was losing my patience. The kid's blood is clotting before they can get it out. Doesn't really seem to have a clotting problem to me!<br />
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I went back and forth about going home for the night. I decided to stay. I wanted to go back to the room and have a good cry. But when I got there someone else was staying in the other bed. I felt uncomfortable and called Chris, I decided to go home for the night, or so I thought. In tears I met him in the lobby and walked out to the car. We had not even gotten on the highway when I told him to turn around. I couldn't leave her, even if it meant sharing a room with a stranger. I think Chris was somewhat relieved. And I was so thankful to have an understanding husband who immediately turned around, no judgement about my 46 mind changes in 20 minutes.<br />
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Day 7 - July 21<br />
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh5PzN67cg1-6MRNwWTpAjPi3DWhWEiDj5LXI8tE1_ltrv4wLO5ossNRRoIdbYSppXyUCequlagm9sr89ljBLgUCXh9_cRXhq4xwB6Jgg5LSmrf_bpAzYLSXRtxr_ncG6_IIKsMz5bKtlDs/s1600/IMG_4469.JPG" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh5PzN67cg1-6MRNwWTpAjPi3DWhWEiDj5LXI8tE1_ltrv4wLO5ossNRRoIdbYSppXyUCequlagm9sr89ljBLgUCXh9_cRXhq4xwB6Jgg5LSmrf_bpAzYLSXRtxr_ncG6_IIKsMz5bKtlDs/s1600/IMG_4469.JPG" height="200" width="150" /></a>Her bilirubin was down after spending the night under the lights. Since they couldn't get a free flow for the ATTP test they ended up doing an artial stick; she clotted fine and the results came back normal. Liver panel was good. (Liver function is a concern with galactosemia) The doctor came in to see her and after looking over the test results and talking to the hematologist and the specialists at Detroit, everyone was in agreement. It was time for Francesca to go home. I couldn't believe it. The last few days had been so frustrating and filled with so much uncertainty and false hope and now - we were going home! I called Chris and told him he should come soon. When he asked why I replied, "because we need a car seat to take our baby home." We walked out of the hospital about a week to the minute Chris and I had arrived after my water broke. Jesus had answered Francesca's prayer (and ours)! But we knew this wasn't the end of the roller coaster journey. With a condition like Galactosemia, it was likely just the beginning.<br />
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Jodiehttp://www.blogger.com/profile/04841239583690363022noreply@blogger.com0tag:blogger.com,1999:blog-4778548872703158762.post-53119987400982757342014-11-20T06:33:00.000-08:002014-11-20T06:59:29.622-08:00Welcome to The Adventures of Galacto GirlOur daughter, Francesca, was diagnosed with Galactosemia three days after she was born. It is a rare genetic metabolic disorder, and by rare I mean 1 in 40-70,000. We owe her early (and potentially life saving) diagnosis to the newborn screen they do in the hospital.<br />
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After doing a little research and reading articles, blogs and personal stories I knew I would soon be joining the ranks. Francesca Jo (FJ) is now four months old and she is perfect. I still have a lot to learn and know there is potentially a long, difficult road ahead of us but I am learning to enjoy every day for what it is.<br />
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Early on I told myself I would allow time to grieve for this scary diagnosis and uncertain future but then I would spend my energy being thankful for every day instead of worried about what may be around the corner. Because really, what's the point of worrying about <br />
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhHGqmuFSbXy78rnunkDZcnwiqaBezidgMj7Br5HBBFsJJ60A996vvUPJe9Tt7k6RDZ3hrSkWUuBJ8Zmp68AQySiplJhoa9wYOw-bQdWLMHrSpBuYSyvWlGkQAmJTgg3aFqoX8ek7FaWXBI/s1600/10710700_10102659711698448_7922820085164472690_n.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><img border="0" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhHGqmuFSbXy78rnunkDZcnwiqaBezidgMj7Br5HBBFsJJ60A996vvUPJe9Tt7k6RDZ3hrSkWUuBJ8Zmp68AQySiplJhoa9wYOw-bQdWLMHrSpBuYSyvWlGkQAmJTgg3aFqoX8ek7FaWXBI/s1600/10710700_10102659711698448_7922820085164472690_n.jpg" height="200" width="150" /></a>something that might never happen. And if it does, it won't help to have wasted days, months or years worrying about it. I do pretty good, but still have some hard days. I just want my baby girl to have the best life possible.<br />
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So, I will be keeping a blog about our Galacto Girl. Maybe it will help someone else and I know it will help me. You're invited on this crazy journey with us. The good, the bad, the ugly. It will be the Adventures of Galacto Girl. Sounds like a super hero, right? Well, after the fight she put up during her first week of life, she could be one. All we need is a cape.<br />
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Learn more about Galactosemia: http://galactosemia.org/Understanding_Galactosemia.php<br />
<br />Jodiehttp://www.blogger.com/profile/04841239583690363022noreply@blogger.com0