Welcome to Illinois

Getting it wrong and telling it right

Posted in Attitudes to disability, Campaigns, Personal, Screening by Matt at WelcometoIllinois on January 2, 2010

My older sister is currently expecting her second child. Being a few years older, and therefore statistically more likely to have a child with Down’s syndrome, and also having seen from our experience that it pays to be prepared, she is likely to have a combined test in the coming weeks to assess the possibility that my new niece or nephew has DS.

However, this post isn’t about my sister or the next addition to our family. Its about the health care “professional” who told my sister that she shouldn’t be overly concerned there is a history of Down’s syndrome in the family since the link is via her brother (me) and Down’s syndrome “is passed down the mother’s side”.

The ignorance revealed in that statement is staggering. To be clear, Down’s syndrome can be the result of inheritance from one of the parents (who would not show any signs of chromosomal abnormality) but that form of translocation occurs in only 1/3 of 4% of cases of Down’s syndrome, and in any case can be inherited from either the father or the mother.

This information itself would only be relevant in my sister’s case if G had Translocation Down’s syndrome, which he doesn’t. But then it sounds like the health care worker concerned is having trouble with the basics, let alone the difference between Trisomy 21, Translocation and Mosaic Down’s syndrome.

It is frightening to think that someone lacking a basic understanding of Down’s syndrome is providing advice to expectant couples.

It is also a timely reminder that the Down’s Syndrome Association’s Tell it Right campaign involves a petition to the UK Prime Minister to provide high quality information in the diagnosis of Down’s syndrome. For those in the UK there are just five days left to sign the petition.

5 Responses

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  1. starrlife said, on January 2, 2010 at 1:34 pm

    Oh. My. God. Happy New Years to you and yours.

  2. Amy said, on January 2, 2010 at 2:10 pm

    It’s Down Syndrome! Why is it that everywhere I look people can’t seem to get it right.

    Mother of a DS angel

    • Matt at WelcometoIllinois said, on January 2, 2010 at 9:19 pm

      Because I am British and in Britain “Down’s syndrome” is the correct form. Either way “syndrome” should not be capitilised.

  3. Terri said, on January 2, 2010 at 2:12 pm

    Layers of minsinformation doled out by professionals…

  4. rickismom said, on January 3, 2010 at 12:28 am

    Yes, sometimes I am amazed how little medical professionals will know while still giving out advice…..and I’m a nurse…..

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