Alva Review-Courier -

Finding answers for patients with rarest of rare diseases

 

October 11, 2018



WASHINGTON (AP) — The youngster's mysterious symptoms stumped every expert his parents consulted: No diagnosis explained why he couldn't sit up on his own, or why he'd frequently choke, or his neurologic and intestinal abnormalities.

Then they turned to a new national network that aims to diagnose the rarest of rare diseases — and learned Will Kilquist is the only person known in the world, so far, to harbor one particular genetic mutation that triggered all those health problems.

"It kind of put me at peace with myself, knowing there is absolutely nothing I could have done to prevent t...



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