Science Sunday #25

Science Sunday #25

I came across a very moving article this week that I’d like to share for this week’s Science Sunday.  The article is called One Of A Kind:  What do you do if your child has a condition that is new to science?  It was published online ahead of print in The New Yorker on July 21.

The article is about a family with son had an undiagnosed medical condition, and their journey through trying to get him a diagnosis.  The writing of this article was very raw and real, and captured, as best as words on a page can, the parents’ emotions as they struggled through years of trying to find out what was wrong with their son.

Eventually, he was diagnosed with a glycosylation disorder:  but only after his and his parents’ genomes were sequenced, and there was outreach worldwide to identify other patients who had the same mutation.

From a clinical perspective, it gives hope that with enough persistence, other patients who have not yet found a diagnosis will be able to.  From a research perspective, it highlights the importance of collaboration to further human health.  And from a human perspective, stories like this make us grateful for what we have and sympathetic for those around us who are struggling.

It’s worth the read.


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