Monday, 25 February 2013

The Geneticist's Code

Maria was three years and six months by the time we finally got to meet a paediatric specialist at our local hospital. I'd had five months to research RTS, so we were well ahead of the game and simply went through the motions of watching the doctors formally diagnose Maria with RTS. They too suggested a genetics test and took a swab of Maria's mouth and a blood sample. Another two months passed when we were invited to see the geneticist at another hospital. She was very pleasant and helpful but I still didn't get the impression she knew much about RTS, so we didn't receive any specific advice over and above what I'd read in research papers. Besides, they all knew I'd read RTS papers, so that got them off the hook having to explain details. 

We did get a copy of the molecular genetics report from the geneticist. It stated that Maria is "heterozygous for the nonsense mutation c.2773C>T (p.Gln925X) in exon 14 of the CREBBP gene", which confirmed she had RTS. Now even my "A" level knowledge of Biology couldn't fathom what "c.2773C>T" meant but I promised myself, for Maria's sake, to find out.

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