Monday, July 10, 2023

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 There was so much information out there but a lot of it was outdated.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

Friday, April 28, 2023

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:




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. 


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. 









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 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! 




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...