Tuesday, 15 January 2013

Mosaic Down's Syndrome - My Latest Real Life Story

I first wrote about this rare form of Down's Syndrome for that's life! several years ago. Then in 2011 I heard about Claire's fascinating story, and wrote it up for Essentials Mag. Then it went in the Daily Mirror and now it's had a 3rd showing - this time in Bella Magazine!

Few people have heard of the condition, where someone has two or more types of different cells in their genetic make-up, It's often missed in standard genetic tests. Like mosaic patterns formed from many small pieces, Claire had two or more types of different cells in her genetic make-up. Around 13% of her cells had the extra chromosome 21 found in the more common form of Down's Syndrome, & the rest are normal.

When Claire’s mum, Beverley, gave birth to her, she thought Claire was a normal baby girl but over the years she became increasingly difficult to manage. Despite having a son a year younger than Claire who was fine, Beverley blamed herself & wondered where she was going wrong. Eventually, just before Claire’s 11th birthday, Beverley pushed for medical tests. Claire’s doctor organised blood tests to check her DNA and she was found to have Mosaic Down’s Syndrome, which is diagnosed in around 2% of people with Down's Syndrome.

Most mums discover their babies have Down’s Syndrome during pregnancy or soon after birth, & the news can be devastating. All Beverley felt was relief that it wasn’t her fault & Claire wasn’t a naughty child. Claire was told about her condition when she was diagnosed &, gradually, over time she came to understand what it was. Now she wears her Mosaic Down's Syndrome like a crown. She raises awareness about it and supports parents on social networking sites. She has even made short films about it.

Claire amazes Beverley with her independence and achievements. She has a 2:1 honours degree in media & lives alone in a small flat near her parents. She has even flown to America to give talks on Mosaic Down's Syndrome.

Beverley is extremely proud of her inspiring daughter and wonders how many other people are living with Mosaic Down's Syndrome who haven’t been diagnosed.

I am a SWAN UK (Syndromes without a Name) blogger

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