Posted by: Chris Maloney | January 29, 2012

Trisomy 18: We’ll Have A Screening Test, But No Treatment.

Edwards' Syndrome (trisomy 18)

Image by Allen Gathman via Flickr

The recent hospitalization of Bella, Rick Santorum‘s daughter who has Trisomy 18, brings attention back to an otherwise neglected illness.

A group in Texas which was formed after a cluster of Trisomy 18 births is disbanding because they cannot show a direct connection to any cause.

Meanwhile, a company has figured out how to do blood screening of the mother to detect Trisomy 18.

So it is very likely that there will many fewer Bellas in the future.  Parents will be told the child is unlikely to survive and many will choose not to go through the Santorum’s pain.

As the proud doctor of many children who “shouldn’t have made it,” including several now adults, I can only say that for those parents who chose to buck the odds I’ve never met any who regretted their choices.  It seems that sometimes lab tests should take a back stage to the human heart.

Our care goes out to the Santorums, not as politicians, but as fellow human beings going through a terrible ordeal right now.

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