Taylor Sabky, mother of a 3-year-old boy who died of Niemann-Pick disease type A, provides advice to parents who face similar tragic diagnoses. 

As Taylor explains in this video, finding groups that can provide advice and support is extremely important to help cope with the knowledge that a parent’s child may have a terminal condition. 

Taylor found support in her Facebook group as well as the National Niemann-Pick Disease Foundation (NNDF). Taylor’s son, Purnell, passed away on December 30th, 2019. 

Niemann-Pick type A is a rare genetic condition that results in the build up of sphingomyelin that results in severe damage to several organs, including the brain.  Niemann-Pick disease type A (along with type B) is also referred to acid sphingomyelinase deficiency (ASMD). There is currently no approved treatment for this condition.  

To learn more about this and other genetic conditions,  go to https://checkrare.com/diseases/congenital-and-genetic-conditions/