We had a half yearly check up at Roskilde this morning for DK. He was wieghed and measured and we had a chat about his progress. Other than not speaking, he is doing fine and there is nothing much to do for another 6 months. He then had a hearing test which seemed to show that he can hear properly and there isn't much to worry about there either.
The Doctor who oversees DK is presenting him at a conference in January as a case study because he is an interesting little boy who doesn't really fit nicely into any know syndromes. Despite that, the Doctor is convinced that he has CHARGE syndrome based on his one sticking out ear.
Not being a doctor, it is difficult to argue with one about a diagnosis, but I do know that a syndrome is just a collection of symptoms and there is a requirement to have a certain number of these symptoms in order to be diagnosed with the syndrome. The problem is that DK doesn't really have the symptoms necessary for a diagnosis so I really cannot see why he is so determined to demonstrate that it is what he has. Next step is a DNA test to determine if the "right" genes are messed up for it to be CHARGE.
As long as the doctor doesn't charge you.
ReplyDeleteDelighted that DK is progressing well; some of the best people have an odd ear...
m
Charge me with what?
ReplyDeleteStick his ear down with some double sided sellotape-no charge.
ReplyDelete