Even closer to a diagnosis...

We went to see the geneticist today. This was an appointment I have been looking forward to for some time as this is the person whose job it is to put all the bits of pieces that are misbehaving for William together to diagnose an underlying genetic condition. It is a very interesting appointment and the methods are very different to others. Out geneticist is a lovely woman which is important as we really do need to be able to trust her and also because it can be quite upsetting for someone to point out all the aspects of William's appearance that suggest various genetic syndromes. She is lovely about all this and stresses how gorgeous William is. I must say, I totally agree with that. The conclusion today was that William is in the ball park of three related syndromes, Costello, Cardio-facial-cutaneous (CFC) and Noonans. These syndromes overlap quite a lot and testing for them is in its infancy. They are all pretty rare. There are tests, but not all children who have previously been diagnosed clinically are coming up positive on them. This could be because there are other genetic faults that lead to them, or could be that there are other, yet unknown or unnamed, related syndromes. William has a lot of features of CFC and Costello. The geneticist thinks CFC but he would have very extreme gut problems for a child with CFC. He has most of the characteristics of Costello but lacks a couple of key features. It is unlikely to be Noonans as he has too many severe problems. The next stage is to discuss his case with geneticists in Manchester who specialise in these syndromes. They will be asked which of them they think he could be given a clinical diagnosis of and what genetic tests should be done. Of course, it could be that he has a different genetic fault that has features of these two syndromes but we hope to be able to at least have a diagnosis of "syndrome similar to x (Costello or CFC). She agreed that neural cell migration disorder is the likley explanation for William's impairments and that these syndromes would be the causes. So, we can now say that he has neural cell migration disorder caused by one of these syndromes. If you are still with me you are doing very well. This is all highly complicated and could take a long time to sort out for definate. He will now see the geneticist every year to review the diagnosis and map his progress. There will be discussions and letters and, perhaps, genetic tests in the meantime so we hope to have a clearer diagnosis before then.