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Some rarest medical conditions- Compiled by Navtej Kohli
By navtej-kohli | May 10, 2008
Navtej Kohli medical blog talks about some really brave people for whom life is a struggle everyday.
- A World Without Pain: In many ways, Gabby Gingras is a typical 7-year-old girl. She goes to gym class with other second-graders, loves playing board games, and idolizes her older sister Katie. It is hard to tell that she suffers from ”hereditary sensory autonomic neuropathy.” HSAN is an extremely rare genetic disorder that affects the sensory nerves. In Gabby, the nerve fibers that detect pain and temperature never developed. There is no cure.
- Fatal Familial Insomnia: A hereditary sleeping syndrome that researches say goes back over 250 years, Fatal Familial Insomnia is an extremely rare genetic disorder that steals victims’ sleep, their minds — and then their lives. It begins in midlife with occasional insomnia, but as the disorder progresses, they live in a zombie-like state for months before dying. For Carolyn and Cheryl, the genetic mutation has killed their grandfather, their uncle and even their mother. Do they carry the gene themselves?
- Mermaid Syndrome: Shiloh Pepin was born with her legs fused together, feet turned outward — a condition called sirenomelia, or ”Mermaid Syndrome” — that is almost always fatal to a newborn. What is it like to defy the odds and survive, even after more than 100 surgeries? Two of only three people in the world known to have survived this condition — alive against all odds.
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Topics: Rare Medical Cases and Facts |