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The very first day Ashaunta Anderson dropped her then one-year-old son off at daycare, he returned home to her with his first fever. That fever led him to the emergency room and ultimately hospital admission. What caused all this?
In April 2015, seven-year-old Clarissa Prado was diagnosed with Wiedemann-Steiner Syndrome (WSS). In June 2017, Clarissa’s mother Catherine joined a Facebook group for the Wiedemann-Steiner Syndrome (WSS) Foundation, and shares that the WSS Foundation’s mission is to serve “as a cornerstone of knowledge for individuals affected by this syndrome, their families, physicians, and researchers. Together, we support and advocate for ongoing research to help those diagnosed to reach their greatest potential.”
When two-year-old Ellie Shamaly was diagnosed with Sanfilippo Syndrome last year, her entire family’s focus changed. Sanfilippo Syndrome is a fatal neurological disease in children that is often referred to as “Childhood Alzheimer’s.” Figuring out how to move forward became an urgent concern, as there is currently no FDA-approved treatment or cure for the condition affecting 1 in 70,000 children.
Darling Quinn Doty is one of approximately 700 individuals worldwide to have been diagnosed with Pitt Hopkins Syndrome (PTHS), a rare neurodevelopmental disorder for which no pharmaceutical treatments are yet available. Enter the Pitt Hopkins Research Foundation (PHRF), which urges, “Don’t just hope for MIRACLES, FIGHT for THEM!” And boy do they walk the walk.
We’re willing to bet that you haven’t given much thought to your body’s powerful ion channels lately. Yet, even when you ignore them, they still perform a critical role in your body to keep you functioning and playing the way you do. Sadly, a very rare and as-yet-inexplicable mutation in the SCN8A gene that encodes one of those super-important ion channels can cause us to have seizures, developmental delays, and an overall medically fragile state.