Born in February 2021, Sofia is the younger sister of Megan — and together, they are one family living with a double diagnosis that few in the world have faced. Both sisters carry mutations in the ASAH1 gene, the molecular source of acid ceramidase deficiency that drives SMA-PME. Their family has shown what strength looks like in the face of the unimaginable.
"Two sisters. The same rare gene. A family that faces it together — and a community that refuses to let them face it alone."
Sofia's full story is coming soon. She is one of ten children in our community whose lives depend on the breakthroughs this research is working toward. Every contribution, every connection, every day of research done is a step toward a future where Sofia — and every child like her — can thrive.
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For every child like her.