CDKL5 Disorder

We had more or less gotten used to the idea of never finding out what has caused Vegard to be as he is. All tests that had been done so far had come out clean. Then we were put in touch with a geneticist and she started digging in Vegard’s genes. One day she called us, all exited, and told us they had found a disorder in one of Vegard’s genes. She asked us parents if we could have blood samples taken, so that it could be ruled out if one of us had the same disorder. Well – the answer came a few weeks later, my husband had the same disorder in his genes. Since he is a perfectly healthy man, this disorder was dismissed as innocent in Vegard’s case.

We more or less forgot about the whole thing, until one evening in November 2009 my phone rang. Once again it was the geneticist, and this time she was very exited. She had had some results back from the University in Cardiff, and they had found a new genetic disorder in Vegard. Now it just remained for us parents to be tested once again.

Then, in February 2010 I once again had a phone call from the geneticist. She was all over the moon – none of us parents had the same disorder. She told us she is quite sure she finally had cracked the code. Vegard has a disorder in the CDKL5 gene – in exon 8.
Reading about this disorder, it all fits – the Infantile Spasms, the West Syndrome, the severe learning difficulties and his physically challenges.

There is no cure for a CDKL5 disorder. Practically it means nothing for us having a diagnosis. Still – it means everything. Now we know! Now we know for certain that I didn’t do anything wrong during my pregnancy – nothing I ate or didn’t eat could have changed what was in wait for us. Now we know nothing wrong happened during birth. Now we know nothing wrong happened during Vegard’s first weeks in this life. And better still, we also know that if his big brother Erik one day wishes to become a dad, he does not have to worry about bringing Vegard’s condition on to his future children.

So, as I said – having a diagnosis means practically nothing – and practically everything.