Rare Disease Week: February 24-28
Less than a year ago, I didn’t even know Rare Disease Week even existed. Now, as mother of a son who has Batten Disease – CLN2 this week has taken on deeply personal meaning. This year, Rare Disease Week is taking place from February 24-28. For families like mine, this week is more than just a series of events—it’s a chance to push for changes that rare disease communities so desperately need. Here is why this week is so important:
A rare disease is defined as one that affects fewer than 200,000 people in the U.S., but when you consider that there are over 7,000 rare diseases, the collective impact is staggering (Source: National Cancer Institute). Unfortunately, rare diseases often lack the funding, research, and treatment options that more common conditions receive because they are so rare. For many families, a rare disease diagnosis means navigating a maze of uncertainty, financial burdens, and limited treatment options. My family is still trying to navigate the web that is insurance and Medicaid, which has been ongoing since June 2024.
Rare Disease Week holds special significance for me because my own child has Batten Disease CLN2, a devastating neurodegenerative condition. Our journey has been filled with what feels like every emotion, from getting the earth-shattering diagnosis and feeling our world crumble, to going through hell with insurance and the hospital trying to set his treatment up, to letting a glimmer of hope shine through and learning about the gene therapy trials. These trials are a beacon of light to families like mine but lack the funding to move forward and too often, families like mine feel invisible in the broader healthcare landscape.
Rare Disease Week is more than just an awareness campaign—it’s a movement toward progress, hope, and change. I’m not asking for donations; I’m just asking for awareness. If you recall, back in December, pediatric rare disease research was dealt a devastating blow. The Rare Pediatric Disease Priority Review Voucher (PRV) Program expired on December 20, 2024. This program incentivized pharmaceutical companies to develop treatments for rare pediatric diseases. The policy package that was meant to extend the program was excluded from the final government funding bill.
This decision was heartbreaking for families like mine. Without incentives, pharmaceutical companies have even fewer reasons to invest in treatments for rare diseases, leaving countless children without hope. Rare Disease Week is an opportunity to advocate for the reinstatement of this critical program and push for policies that prioritize rare disease research.
Rare Disease Week is our chance to shine a light on the challenges and needs of the rare disease community. Join me in making sure that our voices are heard and that no family has to face this battle alone.
You might see more blog posts about Rare Disease Week as I stay updated on all that is going on, but don’t worry! Updates on James and his progress will continue to be posted as well as uploading recent pictures.
We appreciate everything you do for us and we wouldn’t have made it this far with all of your love, support and prayers.
Much love from us all!