System Failure: $7.8 Million per Galactosmeia Patient in Preventable Burden

Enough is Enough: The Devastating Impact of Funding Cuts on Rare Disease Communities

Every morning I wake up bracing myself, knowing I'll likely discover yet another crucial resource stripped away from those of us advocating tirelessly for rare diseases like galactosemia. If navigating life with an ultra-rare condition wasn’t already challenging enough, the ongoing funding cuts from key institutions like the FDA, CMS, and NIH are pushing our community closer to the edge.

Approximately 3,500 Americans live with galactosemia, a rare metabolic condition diagnosed in about 80 new babies each year. We adhere to the strictest diets imaginable, yet toxic galactose buildup continues to wreak havoc on our bodies, causing severe complications like cataracts, neurological damage, infertility, kidney strain, and weakened immune systems. Our recent report details these burdens, revealing just how heavy they truly are—physically, emotionally, and financially.

Despite clear evidence and detailed reports demonstrating urgent needs, regulatory bodies continue to tighten budgets, remove critical resources, and deny flexibility in approving promising treatments. The recent rejection of govorestat, due to rigid statistical standards unsuitable for ultra-rare diseases, was just one more example of systemic indifference to our suffering.

These cuts aren't just line items on a spreadsheet—they are lifelines being severed. Every dollar lost delays groundbreaking research, every closed program blocks pathways to innovative treatments, and every rejected therapy means another generation enduring avoidable pain and disability.

As an advocate and a parent, I am beyond frustrated—I'm outraged. Our community was barely keeping afloat before these relentless cuts. We need policymakers to listen, regulators to adapt, and legislators to act with compassion, urgency, and accountability.

We cannot afford more cuts; we deserve more support, more resources, and more respect. It's time our voices are heard, loud and clear: enough is enough.

Join us. Fight with us. Because rare should never mean ignored.