Update on DS
Dec 22, 2016 13:52:51 GMT -5
Post by kleigh926 on Dec 22, 2016 13:52:51 GMT -5
I thought I would let you all know that we got some results back for DS that finally give us some answers to explain his symptoms. His neurologist had ordered an epilepsy genetic test that looks at 75 different genes known to cause epilepsy if abnormal. DS does have a mutation on a gene that is likely causing the seizures, motor delays, and speech delays. Other symptoms that can result from mutations on this gene include varied levels of intellectual delays, autistic behaviors, short stature, and some facial abnormalities, none of which he really appears to have at this point, although we will probably only be able to make a better determination on the intellectual and behavioral parts as he gets older. From what I understand the specific mutation he has is not as severe as some of them are, but we'll find out more when we have an appointment with the geneticist.
The last two seizures he had were much shorter than most of the previous ones, and he has made a lot of progress developmentally. I think he is mostly caught up with the motor delays and he isn't far behind in speech anymore either. The neuro is pleased with how he's doing and is optimistic about the future. I do wonder if his extreme tantrums and reactions stem from this, or if it's just because he's a difficult 2-year-old. I guess only time will tell. It helps to have a reason for all of this, to know why it's happening and that it's all linked together. Thanks for all your thoughts, prayers, and concerns for him over the past couple years!
The last two seizures he had were much shorter than most of the previous ones, and he has made a lot of progress developmentally. I think he is mostly caught up with the motor delays and he isn't far behind in speech anymore either. The neuro is pleased with how he's doing and is optimistic about the future. I do wonder if his extreme tantrums and reactions stem from this, or if it's just because he's a difficult 2-year-old. I guess only time will tell. It helps to have a reason for all of this, to know why it's happening and that it's all linked together. Thanks for all your thoughts, prayers, and concerns for him over the past couple years!