Parents Discover They Carried a Rare Gene Mutation After Their Two Children Were Diagnosed with Niemann-Pick Disease
An Ohio couple learns, after genetic testing, that both parents unknowingly carried the same rare mutation, leaving their two children Roman (7) and Stella (6) diagnosed with Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease Type A/B. The disease can cause liver issues, vomiting, seizures and neurodegeneration; with no cure, the family has pursued aggressive treatments to slow progression, including bi-weekly infusions, while navigating pregnancy and caregiving. Their children have lived beyond initial life expectancy, and the parents have become advocates to improve access to treatment for other families dealing with ASMD, emphasizing resilience and hope.