Acid Sphingomyelinase Deficiency
(a.k.a Niemann-Pick Types A & B)
is an ultra rare, fatal genetic disease that results from a deficiency of the enzyme acid sphingomyelinasecauses. This deficiency causes a fatty substance (lipid) called sphingomyelin to build up around the organs.
ASMD affects primarily the liver, spleen, lungs, and in severe cases (like Roman and Stella's) it affects the brain, causing rapid neurodegeneration.
Symptoms of ASMD
• An enlarged liver and spleen
• Distended belly
• Progressive loss of muscle tone (hypotonia)
• Frequent vomitting and nausea leading to feeding difficulties and failure to thrive
• Rapid neuro-degeneration (think baby Alzheimer’s) that leads to death typically by age three