The Big DNA Check of V - Swedish scientists to search for the lack of myelin in my son´s brain

We have entered the space between medecine and science. V is now subject to not only doctor´s and specialist´s interest but also to scientists here in Stockholm.

I´ve written about V´s special disease here and the problem to tell exactly what´s causing the lack of myelin in his brain. (Hypomyelination).

My last note there is from March 2012. Since then a lot has happened with V but with the one thing I wanted the most (and still have dreams about at night) - V´s problem to use words - very little has changed.

He is a very active young boy of 4 now. He runs, crawls, jumps (not high but still) and likes to take short strolls by himself down the street to check out the neighbourhood. But he only uses a few words like "mama, papa, Yes, no".

But he understands almost everything we say and we use sign communication. He understands a lot of different signs now and he master over 50 himself. Lately he combines them, like escalator, which in Swedish is "rolling stairs" - so we take the sign for roll and then the sign for stairs. And today V did the same (He loves to see movies on YouTube of Escalators, trains, elevators and buses)

But the cause of the matter is still not determined and now we´re going to let scientist check out all of V´s DNA-genome.
They are then going to compare this to me and my wifes genome (and his big brother´s) to try to see what´s gone wrong and where the mutation occured.

When we decided to go along with this we also had to decide whether we wanted to know about other differnt diseases the scientist could discover that our genes could bear.

Tricky questions, to say the least. Do I want to know if I have a 72% likelihood to grow cancer? Or if my son does?

But at the same time it feels good that we´re on this thing. I want to look under every stone possible to try to find out what has happened to V. And it feels good to have some smart scientists onboard.