Sofia and Megan share the same rare genetic condition — a heartbreaking reality that has made their family's journey doubly challenging, and their love and resilience doubly remarkable. Both sisters carry mutations in the ASAH1 gene, causing the acid ceramidase deficiency that defines SMA-PME.
Sofia's full story is coming soon, shared with her family's blessing. Like her sister, she is a daily reminder of why SMA-PME research cannot wait — and of the thousands of small moments of joy that her family fights to protect.
We encourage you to read Megan's story, learn more about the disease, and join the community of families and researchers who refuse to give up. Sofia is why we do this work.
