Friday, September 6, 2019

A broken gene

Dr. Lisa Sanders writes a column in the New York Times.  Her idea is to use the wide circulation and high reputation of that newspaper to let people know of a given condition that can't be understood.  The program is called "Diagnosis" and that is the goal: give this poor sufferer an accurate diagnosis so the problem can be understood.  


Last night, we watched episode 4 of "Diagnosis" on Netflix.  Definitely, worth watching but keep the facial tissues near. A little girl experiences weird but slow collapses.  They happen several hundred times a day. They can happen at any time or place. So, swimming lessons are out. She can be walking across the playground and an episode will slowly and gently crumple her, like she is curling up on the ground for a nap. 4 to 20 seconds later, she is out of the grip of whatever it is, and returns to normal functioning. What the hell??


Dr. Sanders writes about the situation, a single but intelligent and hopeful mom who loves her little girl who seems to accept and suffer collapses peacefully.  During the tv program, we learn that the condition is related to a broken gene, a gene that is known specifically. We also learn that a scientist at the University of Maryland has been investigating the gene and its relation to the body's handling of potassium, an essential element of the body's nerve system.  The publicity generated by the Sanders New York Times article enabled the mother to get in contact with parents in Copenhagen of an older child, a boy, with similar symptoms. The Americans actually visited the Copenhagen family.


More surprisingly, the mother found a Facebook group, already in existence, that consists of parents who have children experiencing these short, random blackouts.  Most amazing, the U. of Maryland scientist didn't know the Facebook group existed! Communication, and widespread communication, at that can make a very big difference.

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