Taylor Sabky, mother of a 3-year-old boy who had Niemann-Pick disease type A, explains how she came to learn about this devastating disease – beginning with advice from her doctor to not google it while they confirmed a diagnosis.
Taylor worked tirelessly to find a treatment option for her son, Purnell. Unfortunately, he passed away on December 30th, 2019.
Niemann-Pick type A is an autosomal recessive lysosomal storage disease that develops in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders. Niemann-Pick disease type A (along with type B) is also referred to acid sphingomyelinase deficiency (ASMD) and as the name implies, these children have low levels of acid sphingomyelinase that results in the accumulation of sphingomyelin.