Acid Sphingomyelinase Deficiency (ASMD) is a rare disease that limits and shortens the lives of children and adults. Breakthrough treatments can halt symptoms and reverse disease progression. Despite clear clinical benefits, many UK patients still cannot access these medicines, even though they are available in over 50 countries including France, Germany and Australia. Changing the way treatments like these are valued is the first step in giving UK patients with rare diseases a chance of an impr
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Acid Sphingomyelinase Deficiency (ASMD) is a rare disease that limits and shortens the lives of children and adults. Breakthrough treatments can halt symptoms and reverse disease progression. Despite clear clinical benefits, many UK patients still cannot access these medicines, even though they are available in over 50 countries including France, Germany and Australia. Changing the way treatments like these are valued is the first step in giving UK patients with rare diseases a chance of an impr
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💜👨‍👩‍👧‍👦 Family's Rare Disease Journey Inspires Hope and Resilience 🌟 #raredisease #asmd
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Roman and his little sister, Stella, are living with a rare and terminal genetic disease called ASMD type A/B. We were told at the time of their diagnosis that there was no cure and that they most likely wouldn’t live past age three. We fought really hard to get them on a couple experimental treatments (one of which recently became the first FDA approved treatment for the more mild form of their condition!) that have drastically improved their quality of life (as well as extended it). The best p
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