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Nov. 18, 2020


Sarah Hill: A Young Life, Interrupted

Posted by Valaree DonFrancesco

Today’s show is all about one patient’s story navigating the world of rare disease, you know – the club you didn’t ask to join, but somehow, once you’re here, you’re kind of family? Sarah Hill had a life interrupted at a very young age. After being fabulously misdiagnosed and not taken seriously for years, at the age of 16, all of the dots finally connected, and it was correctly identified that she had Wolfram Syndrome. This one’s a heavy hitter, folks. Wolfram is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and various other possible disorders. Isn’t it hard enough to be “WELL” in your teens and twenties, let alone slapped with a life-changing health condition you didn’t ask for? Ladies and gentlemen — Sarah Hill.

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