02/27/2025
Happy Rare Disease Day!
Tomorrow, February 28, is Rare Disease Day! Originally held on February 29 (the rarest day of the year), the day aims to raise awareness about the impact of rare diseases, advocate for more research, easier diagnosis, and expanded treatment options, and promote understanding and support for people and families living with rare diseases. For our family, the day is special because, while raising a child with a rare disease can feel isolating, Rare Disease Day is makes everyone in this community realize that we are not alone.
Typically, Rare Disease Day is widely celebrated at the government institutions charged with researching, funding, and approving rare disease therapies, including the NIH and FDA. However, like many unprecedented changes this year, Rare Disease Day has been canceled (or, so their websites say, “postponed” [indefinitely]). This is devastating for the rare disease community. It is also a huge blow to Lucy and other kids with PGAP3. Thanks to you, our supporters, we were able to fund high quality scientific research that led to development of a gene replacement therapy for PGAP3, the first ever of its kind, and it showed incredible promise in patient cells and mouse models. With this excellent data, in 2024, we submitted an application for a large NIH grant to fund the rest of the work needed to get this therapy to a clinical trial in humans, approximately $2M. We have heard nothing – not a yes or no, just nothing. When Rare Disease Day was canceled, we again felt alone in this fight to cure PGAP3 before our daughter shows more decline.
But looking back through all the support we've received on this page , I know we are not alone. We didn’t fundraise on Rare Disease Day last year, because our data was strong and I was hopeful that our government institutions would come through for us – I never want to ask more of our supporters than is needed. While I know there are plenty of folks at the NIH and FDA who care deeply about rare disease, it’s hard to be hopeful about government funding for rare disease in the next four years, and Lucy doesn’t have that kind of time. I’m not going to sit around and wait, and I know you aren’t either. RARE DISEASE ISN'T A POLITICAL ISSUE - IT IS A HUMAN ISSUE.
So, what can you do?
• Call your senators and representatives, especially those who live in red states, and advocate for NIH funding for rare disease. Plenty of researchers at both academic and private institutions have done work FOR FREE for Moonshots, but the reason they can do this is because they have NIH grants that keep the lights on. We all hate bureaucracy – but when we need cells transferred between labs, we need the support staff there to make that happen, and we need the electricity to run incubators and refrigerators to be on. These indirect costs matter a lot to rare diseases, because they take the burden off patient advocacy organizations (and their supporters!) to fund them.
• Start a Rare Disease Day fundraiser for Moonshots for Unicorns! Facebook is a great way to do this, but other social media outlets work too!
• Show your stripes! Traditionally, people in the rare disease community wear zebra stripes on Rare Disease Day. In medical school, we were taught, “When you hear hoofbeats, think horses not zebras” – in other words, think of the common things first. Well, our kids are the zebras, and we wear our stripes to show solidarity. (And now you have an excuse to break out the zebra print tomorrow). Tag us in a photo and we’ll share it on our social!
• Donate! Can you spare $2.28, the date of Rare Disease Day this year, to show your support?
We are so grateful to be able to turn to our supporters in this time of need. We will never give up in our fight against the devastating effects of PGAP3 on our children – all you can do is the next right thing, and we appreciate you being there with us on this journey!
With gratitude, as always,
Geri
