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 There was so much information out there but a lot of it was outdated.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

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: https://youtu.be/tAP1-kQmags).

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 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.

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