Last November our galactosemia community held our breath while we waited for the FDA to make a decision about Govorestat, the clinical trial drug Francesca is on. An approval would mean we would have the first ever treatment for our community – not a cure, but a treatment. A step in the right direction. A denial would mean not only do we not have a treatment to offer our community, but all the kids (including Francesca) who are in the clinical trial, would have to discontinue the drug.
In the months leading up to the decision, all signs pointed to yes…or so we were told. I don’t know
what was happening behind the scenes but it’s safe to say many in our community were left feeling confused, heartbroken and betrayed. I’m not going to get into details because there are things I have no way of knowing, but it does feel like many things were mishandled and miscommunicated and now our community, our kids who have given literal years to do this drug trial, will suffer.Instead of approving Govorestat, the FDA sent a Complete
Response Letter (CRL) to Applied Therapeutics. A CRL is a formal letter issued
from the FDA stating that the application under review cannot be approved in
its current state. That letter, which is not public, explains the issues found
and what could be done to address the issues before a resubmission. The letter
called out issues with dosing errors, data integrity and protocol adherence.
Without knowing specifics, it felt pretty serious, and raised a lot of
questions and concerns as a parent with a child involved. A parent who was told
with much certainty the drug was going to be approved. For Applied Therapeutics’
part, they acknowledged the issues and believed they had already been resolved
in previous communication with the FDA, including providing the data in
question.
During all this the CEO stepped down and new Applied
Therapeutics leadership was introduced. There have been lawsuits introduced by
shareholders and our community has heard very little other than, they are
working to get a meeting with the FDA and find a path forward and are still
very much committed to galactosemia and our community. For now, the clinical
trial participants can stay on Govorestat, which should be a relief. Unfortunately,
personally – we’ve ran into a bit of a snag. Clinical trial patients are being
moved to the “Expanded Access Program” which allows patients to have access to
the drug while it’s still being investigated. As part of the EAP, other
individuals with galactosemia who were not part of the clinical trial can also start
receiving the drug. At the end of last year, we started talking to the girls’
pediatrician about the program and if she would be willing to participate so
Amelia could start the medicine. We had a few months of back and forth,
paperwork, etc. but earlier this month we hit a roadblock. We received a
personal call from their doctor (who we love and I support 100%) with news that
took the wind out of me. Being part of a practice, her partners (and their
lawyers) saw it as too much of a risk to sign on to the clinical study. By
taking over the girls’ care and medical appointments and medicine distribution
she would be named a Principal Investigator…for a company who has recently been
named in several lawsuits. It’s a risk and one they are not willing to take and
while it is heartbreaking for us, I do understand.
So, what does that mean for Francesca and Amelia? I’m not sure. We do know there are a couple
providers in Michigan who are seeing EAP patients so our clinical trial nurse is checking to see if any of them would take on Francesca and Amelia. This isn’t the best-case scenario – but it might be our only chance to keep Francesca on drug and allow Amelia to start it. And it would mean more travel for appointments, especially for Amelia who will have more appointments since she’ll be starting the drug for the first time. Of course, then I wonder, is it worth it? If the drug isn’t approved, they will eventually have to stop it any way. So would a bunch of doctor appointments, blood draws and hours of travel worth it? I really don’t know.But what I do know is some families have seen significant
improvement since starting the drug. There are kids who haven’t had seizures
since starting, others have seen a decrease in tremors and still others have
seen a significant improvement in comprehension and memory. And I would say
that is where Francesca fits in. Has it been a miracle drug for her? No, but
she wasn’t in a place with severe complications that we needed a miracle. But
for others? This has absolutely been a miracle drug for the families who are no
longer experiencing seizures, tremors and more. The thought of this medicine
not being approved and having to stop it is devastating to think about.
As for Francesca, we have definitely seen an improvement in
her reading and math. Do I think it’s all the drug’s doing? Maybe, maybe not.
She is also on an IEP now and has some accommodations that have made a
difference. And she’s receiving tutoring twice a week. Before the drug,
Francesca was consistently bringing home 60% and below test scores. This year
we see many more math tests coming home with 70-80%. She continues to try so
hard and have such a good attitude. Her drive is more powerful than her struggles
and I am so proud of her. And that does make me worry what will happen if she
stops the drug, especially as we anticipate middle school next year. It’s going
to be a whole new world for her. Faster paced, more homework and more
demanding. How will she handle it on drug let alone without it? I can’t think
about it for too long or I spiral and that does no one any good.
NIH Funding Cuts
As if this hasn’t been enough to navigate, we received another blow last month. The announcement of
NIH Grant funding cuts, specifically a cap on indirect costs. This is another situation I’m not going to pretend to know or understand the ins and outs. What I do know is our top galactosemia doctors and researchers reached out to the Galactosemia Foundation and asked us to send out messages to our community on their behalf. These doctors have labs on college universities. They have ongoing galactosemia research that could be impacted and even stopped if the NIH indirect costs get capped. This was a quote from the statement for the doctors/researchers:“No system is perfect, and we all support the idea of
improved efficiency, but the current proposed 15% cap and immediate time frame
would be devastating for most US research universities and hospitals.
The situation is dire, and we fear not only for the
future of galactosemia research in the US, but also for all other
university-based biomedical research in the US, including studies to improve
understanding and treatments for cancer, heart disease, autism, Alzheimer’s,
and more.”
You can read the entire statement on the Galactosemia
Foundation’s website.
What Now?
We have a drug that didn’t get approved, we have research that
might be ended due to funding cuts, we don’t know if Francesca will be able to
continue on drug or if Amelia will be able to start taking it.
So, what do we do now?
We do what we always do in times of waiting. In times of
fear. In times of “what if”.
We advocate. We educate. We fundraise. And we don’t give up.
Glow for Galactosemia
In about a month, we will be holding our annual Glow for
Galactosemia fundraiser, where we’ll do all
three, we’ll advocate, we’ll educate and we’ll fundraise, with all proceeds benefiting the Galactosemia Foundation. The
first year we held the event at our church and it was all about fundraising
with our friends and family. Fast forward five years later and the event has
turned into so much more than just fundraising, it’s a chance for families
impacted by galactosemia to spend time together. What started with our family
and one other family impacted by galactosemia, we now have 5-6 galactosemia
families in attendance plus their family and friends. These families don’t just
attend the event, but they have stepped up and help make it happen – from
getting safe food donations, to bringing silent auction items to inviting their
loved ones. I am so grateful for all of them and having a network of people so
close in proximity so we don’t have to travel this journey alone.
If you haven’t seen the social posts or Facebook event
information – here is your invitation! Please join us for Glow for
Galactosemia!
When you sign up at Run Signup it will have the date of
April 26 and a location of Roanoke, VA. You can disregard both of those things.
Our event is a virtual component to the larger in-person race event. You will
want to sign up for the Virtual event and join our team: MIGalactoGang.
Here are some helpful links:
Facebook event info: https://www.facebook.com/share/15wWQVoq9K/
Run Signup link: https://runsignup.com/RaceGroups/68674/Groups/1748212
If you can’t make the event, here are a couple other ways
you can support the Galacto Girls:
·
You can still register for the event,
receive an official event t-shirt and support from wherever you are by posting
on social media to help with advocacy and awareness.
·
Donate an item for our silent auction –
think sports memorabilia, event tickets, vacation home rental, theme baskets
(sports, summer fun, movie night, etc.), paintings or other homemade items!
·
Make a donation – On the runsignup
“Donate” page you can either select “Galacto Girls” under the Fundraiser tab or
“MiGalactoGang” under the Team Fundraiser.
Why we fundraise
Whether you’re hearing this for the first time or have been inundated over the last 5 – 10 years by my donation requests for birthday fundraisers, rare disease day, zebra antics, Glow fundraisers and more, thank you for your support. I’m sure my requests feel like a lot. I know that because asking year after year for different events feels like a lot. But as I’ve said before, there’s not a lot I can control on this galactosemia road. I can’t control funding cuts that may stop research, I can’t stop the learning delays,
seizures and infertility that might impact my girls, I can’t control the FDA and make them approve a drug that has helped many of our community members. But I can advocate and share our story and why research and a treatment are necessary. I can educate others to help them understand what galactosemia is and how they can help keep our galacto girls safe and help them succeed. And I can fundraise to help support future research, education opportunities for our community and more.As a reminder, the Galactosemia Foundation is a nonprofit
and Galactosemia is a rare disease. We do not get government funding or grants.
All the money that is raised is done from a volunteer board and members of our
community. And as an organization, the Galactosemia Foundation funds around
$150,000 of research every two years. Your donation could be supporting the
next break through or treatment for galactosemia. Or when I allow myself to
really dream and hope, your donation could fund a cure.
So, I know my requests can be a lot. But so is navigating
the uncertainties of life with galactosemia. Thank you for coming along side us
year after year, fundraiser after fundraiser. It does not go unnoticed. It
keeps pushing me forward, it gives purpose to our journey and fills me with hope. I hope you’ll join us at Glow for
Galactosemia 2025.