Pediatric rare disease drug development relies on the commitment, motivation, and tenacity of the parents. BBDF is grateful for our partnership with rare disease families who are advocating for treatments for Batten disease. Congratulations to Batten mom, Judy Stecker, co-founder of Wheeler’s Warriors at BBDF, for articulating some of the challenges faced by rare diseases.


The FDA Could Help Save My Son From a Rare Disease

My eldest son, Wheeler, has a rare genetic disease that will steal his vision, mobility, memory and, ultimately, his life. Every morning when he leaves for preschool, I worry it may be the last time he’ll be able to see my face. 

One in 10 Americans have rare diseases— defined as affecting fewer than 200,000 people in the U.S.—and 95% of these afflictions lack a Food and Drug Administration-approved treatment or therapy. Three in 10 children affected by rare diseases won’t live to see their fifth birthday. Wheeler turns 5 in May. 

When my son was diagnosed with CLN3 juvenile Batten disease at 4 weeks old, research into possible therapies offered hope. That hope is all but gone. The Beyond Batten Disease Foundation’s planned 2023 Phase III clinical trial of a potential treatment is in limbo, seeking funding. (My family supports the foundation.) Earlier this month, Amicus Therapeutics abandoned its pursuit of the only proposed gene therapy. 

These developments are devastating but unsurprising. Given this, the anti-innovation sentiment in Washington and unnecessary bureaucracy at the FDA have made it difficult for companies to justify investments in rare-disease therapies. 


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