Sunday, 10 February 2013

Our gorgeous firstborn

Welcome Maria!
In 2008 we didn't know it yet but we were staring Rubinstein-Taybi Syndrome (RTS) in the face as we admired our gorgeous firstborn daughter, Maria. 

In the first moments after birth, Joan and I were busy admiring Maria's thick black hair and worrying about whether the large red birthmark on her forehead would eventually disappear (we hadn't yet spotted the one on the back of her neck). 

A few minutes later  Joan noticed Maria's hands, which had quite broad thumbs. She joked that Maria had inherited her good looks and my hands; I examined my nail-bitten thumbs and shrugged. We thought nothing more of it. 

The birth of our first child was a truly magical moment in our lives. I'll never forget the wonder of bringing our much needed daughter into our world. She was gorgeous and we immediately fell in love with her. 

Going back a couple of decades, I thought I'd missed my chance to have children but now, even at the age of fifty one, I still felt up to the challenge.

By the way, none of the medical literature acknowledges that being born with a head of black hair is a feature of RTS. I don't know why because when you speak to parents of RTS children then you'll find it keeps cropping up. I suspect that Jack Rubinstein, Hooshang Taybi and all their successors have missed this one. I mentioned it to my geneticist but she dismissed the observation, saying that many syndromes have this characteristic. My immediate thought was that many syndromes feature "speech delay" but that isn't ignored by the medics. What to do when they won't listen? The red birthmark on the forehead also falls into this category of missed observations. 

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