WHAT IS ASMD ?

(a.k.a Niemann-Pick Types A & B)

is an ultra rare, fatal genetic disease that results from a deficiency of the enzyme acid sphingomyelinase causes. This deficiency causes a fatty substance (lipid) called sphingomyelin to build up around the organs.

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ASMD affects primarily the liver, spleen, lungs, and in severe cases (like Roman and Stella's) it affects the brain, causing rapid neurodegeneration.

• 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 •

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In 2022, the FDA approved the first ever treatment for the non-neurological manifestations of ASMD (Type B) with a drug called Olipudase Alfa. (Read the press release HERE).This drug is administered intravenously through bi-weekly infusions. These infusions essentially reverse damage done from the neck down (helps improve lung disease, liver/spleen issues, etc). Roman and Stella have been receiving this drug since before it’s FDA approval and we have seen some remarkable changes within their bodies since beginning it. It does not, however, cross the blood brain barrier to stop the devastating neurological disease progression that occurs with Type A.

Roman and Stella are currently one of a few children worldwide who have started an experimental treatment for the neurological manifestations of ASMD. It is a type of FAAH Inhibitor that has been shown (in mice models) to slow down or potentially even stop the nuerological disease progression. Although we have seen positive changes since they have begun this drug, there is still A LOT of research that needs to be conducted to figure out the full potential of this drug. We are currently fundraising for Wylder Nation Foundation who is at the cutting edge of developing treatments for the neurological disease. You can read more about their specific research projects HERE.

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