Patient Voices in Drug Research: Our Story Featured on Patients Rising Podcast

 A few weeks ago I sat down with co-host of 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: https://www.patientsrisingpodcast.org/patient-voices-in-drug-research/

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.

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.

 There was so much information out there but a lot of it was outdated.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. 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.

For those unfamiliar with the disease, Galactosemia is a rare genetic disease. It is considered an orphaned disease which by definition is any disease that affects less than 200,000 Americans. Galactosemia affects only 1 in 30 – 70,000 people world-wide.

People with Galactosemia do not have the enzymes in their DNA to break 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 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.

A possible treatment

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 Externally-Led Patient-Focused Drug Development Meeting, 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.

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.

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 Govorestat 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.

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.

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 with 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).

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 (Facebook, Twitter, LinkedIN and Instagram) to help raise awareness and let the FDA know how badly our community wants them to approve Govorestat.

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.

The Foundation recently requested a face-to-face meeting with the FDA to deliver the change.org petition and our Voice of the Patient report 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 Change.org petition to help raise awareness.

We published an Advocating for a Treatment page on our Galactosemia Foundation website 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.

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. 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, “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.”

We continue to try to engage with them, to seek to understand why decisions are being made and we are met with silence. 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.

Hey 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. 

Still largely unaffected - when a clinical trial started for the first ever possible treatment of galactosemia

- 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. 

Read about the start of the clinical trial:

https://galactosemiagirl.blogspot.com/2021/07/the-galacto-girls-join-clinical-trial.html

https://galactosemiagirl.blogspot.com/2021/07/francesca-starts-clinical-trial.html

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. 

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. 

Read my blog from last year about our advocacy efforts:
https://galactosemiagirl.blogspot.com/2022/02/the-clinical-trial-fda-congress-and.html

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. 

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. 

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.

And then there is our story. . Earlier this week, I sat in a room next to my husband and surrounded by a
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. 

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. 

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. 

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 Adventures of Galacto Girls Facebook page when these items are available with specific ways you can help. 

Here is the Galactosemia Foundation press release calling for the FDA to take the patient voice into account.

Here is an article our VP Brittany Cudzilo was part of talking about the challenges we're facing. 

2023 Glow for Galactosemia: Glow Bowl

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. 

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. 

But first, some quick stats. 

• 6 kids with galactosemia present (four families from across Michigan, in addition to us)
• 83 total registered
• 71 attendees
• 62 bowlers

In addition to the money raised through the RunSignup registrations, we raised:

• $950 from silent auction
• $1,750 from check donations
• $455 from additional donations on RunSignup
• $140 from Venmo donations
• $380 cash donations at event 

I also had a Galactosemia 101 presentation available at the event to provide general information for some of our newer supporters. It's available for review here.

As always, you can follow our journey on our blog (if you're reading this - you found it!) Facebook https://www.facebook.com/AdventuresofGalactoGirl
Instagram galacto_girls

GLOW BOWL for Galactosemia 2023

Hello! Welcome! Let’s get this party started.

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.

Reid (3) 

Kendall (2 ½) 

Stella (2) 

Theo (10 mo)

Thank you all for being here!

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.

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.

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 – galactosemia.org) and our social media channels (follow us on Facebook, Instagram and Twitter).

Anyway – The Foundation has a research grant program. Since its inception, the Foundation has awarded 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.

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.

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.

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.

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.

Thank you to “On Pointe Photos and Events” for donating the photo booth for today.

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.

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.  

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! 

Francesca Starts the Clinical Trial

 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. 

Clinical Trial Diaries - Day 1: Francesca was a rockstar. We left Williamston at 6:30 a.m. and she was not impressed - her exact words were “oh man, it’s not even morning time yet.” Things kicked off at 8 a.m.:

• vitals
• blood draw
• ecg
• neuro exam
• a feel and function test
• eye exam

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. 

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. 

Clinical Trial Diaries - Day 2: Today started out promising and is ending okay but the middle was 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. 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. 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 #galactogirls. 

Clinical Trial Diaries - Day 3: 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. Sara Armstrong 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.

Clinical Trial Diaries - Day 4: 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! 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 #GalactoGirl.

The Galacto Girls Join the Clinical Trial

 

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.)

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.

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.

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: https://youtu.be/U_uInPTBmLA.)  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).

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.  

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.

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.

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.

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^th 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.

GLOW: Galacto Girl Style

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. 

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. 

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. 

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! 

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: 

“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. 

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.

GLOW: GALACTO GIRL STYLE 2021 - register today!

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. 

For those interested in joining our event, you can sign up here: https://runsignup.com/Race/Register/?raceId=68674&eventId=450216&fbclid=IwAR1nL4syGZsdTrDVlWbTQz4elaUSVY97L76MuWbx-77DtduJ5GJJnpXz4l4

Make sure to register as a virtual participant and then say yes to joining a team and join GLOW: Galacto Girl Style. 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. You must register by Feb. 10.

For the details on our specific event - check out our Facebook event: https://fb.me/e/1PD20D6P5

We will start with a Facebook Live event at 10 a.m. - after that, it's up to you, but we ask four things:

1. MOVE - Get active! Do yoga, take a walk or have a dance party - whatever sounds like fun!

2. LEARN - 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.

3. EDUCATE - 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.

4. SHARE - 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

P.S. Newscasts covering our event last year available here: https://www.wlns.com/news/galactosemia-what-is-it-family-shares-story-of-daughters-rare-disease/ and https://www.wilx.com/content/news/Williamston-mom-raises-awareness-of-rare-disease-day--568350051.html

And 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...

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. 

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.

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....

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. 

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. 

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 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. 

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. 

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. 

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.)

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.

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!

Galacto Girl Goes To Preschool

Galacto 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...

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.

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.

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.

The only person who wasn't going to meet the teacher before school was mama. I was going to be out 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. 

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.

Francesca was super excited to start preschool. She would be going on Monday, Tuesday and Friday

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.

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.

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.

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.

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.

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.

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.