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Day 3: things we’ve done since our daughter’s terminal diagnosis with PKAN: specialists, medication, and social media! Filmed this video at 630am before work, only to realize there was no sound, so filmed it again after a 12 hour shift…mind my appearance 🥲 #PKAN #PKANDisease #PKANAwareness #PantothenateKinaseAssociatedNeurodegeneration #RareDisease #RareDiseaseAwareness #NBIA #NBIADisorders #CurePKAN #HopeForPKAN #PKANStrong #EndPKAN #FightPKAN #RareButPrecious #RareBaby #OurPKANWarrior #BraveL
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This week, my husband and I traveled to the NYS Capital to speak about rare diseases. We hope this year brings meaningful change to the rare disease community ❤️ please tag @Luke Combs below!!! #pkan #longisland #raredisease #madelinesmission #lukecombs
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YouTubeUF Health
. CHOREA Walker and colleagues reviewed clinical and laboratory features of neuroacanthocytosis (NA). NA was divided into three groups: 1. the “core” NA syndromes with BG neurodegeneration, comprising AR ChAc due to mutations in the VPS13 A gene, and X-linked McLeod syndrome (MLS) due to mutation of the XK gene on the X chromosome. 2. conditions associated with decreased serum lipoprotein levels, namely, abetalipoproteinemia (Bassen– Kornzweig syndrome) and hypo-betalipoproteinemia, characterize
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Local twins with a rare genetic disease are dealing with regression of muscle function after HSHS and Prevea closure. MORE >> https://www.weau.com/2025/01/31/twins-with-rare-genetic-pkan-disease-back-routine-while-dealing-with-regression-muscle-function/ | WEAU 13 News
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