Monday, March 6, 2023

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
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 – 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! 

Sunday, February 6, 2022

The Clinical Trial, The FDA, Congress and an important revelation

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.

First - I'll give some background. Here is a Facebook post I made on Jan. 31.
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.
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.
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. 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.

So, let me give some background to set the scene for all of this.

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.

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:

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:
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.
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.

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.
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.
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 progressive disease?
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.
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.
Next week the health committee will have a hearing on Reauthorization of the
Prescription Drug User Free Act – which means there could be changes made to FDA’s Accelerated Approval process.
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.
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.
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.

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.
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.
Please keep us in mind next week when the health committee meets and considers changes to the FDA’s Accelerated Approval process.
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.

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.

Friday, July 16, 2021

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.

Tuesday, July 6, 2021

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:  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 7th 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.

Monday, January 18, 2021

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 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. 

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:

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

Saturday, May 9, 2020

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. ( 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!

Friday, September 15, 2017

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.