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.