Update on DS

[kleigh926]

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! 

[colinsfebmommy]

I am glad you got more info on your son *hugs*

[expatmama]

So so so so glad you have finally got some answers on this! And glad you are making some progress! Hope this helps give some clarity.

[seadragon2013]

I'm glad you have some answers. Yay for all of the progress your DS has made.

[mishka29]

That is great news that they have been able to pin point the issue! I hope the apt with the geneticist goes well. Having answers makes such a big difference.

[aydee]

I'm glad you finally have some answers. It's great that he's caught up so much on his developmental milestones over the past year. That is really encouraging and must be a big relief. I hope the seizures continue to lessen over time. Thanks for keeping us posted on how he is doing.

[brachysira]

I'm glad to hear he's catching up and that you have a diagnosis of sorts. Every diagnosis comes with the worst scenarios listed, so it's scary but nice to know that not everyone has all of these.

[sagen]

I am so happy you have answers, and the doctor is so pleased and optimistic by his progress.

[crimsonandclover]

Answers! Finally! I'm really hoping this will help you develop a targeted plan going forward and will also maybe help you from worrying about things that could be even worse, I.e. Life threatening. I'm also glad they are optimistic that his mutation isn't as severe as some forms.

[dc2london]

I'm sure it's a relief to have some answers. Does your county or school district provide services for him?

[kleigh926]

Dec 26, 2016 8:19:32 GMT -5 dc2london said:

I'm sure it's a relief to have some answers. Does your county or school district provide services for him?

He's been in early intervention since he was about 9 months old and will be making the transition to IU-13 services by the time he turns 3 if he still needs it. I haven't looked into the services that our school district would provide yet but I'm hoping there is a preschool option for him around here when the time comes.