One year follow-up with dev. neurologist later today
Should have posted this earlier since the appt. is very soon, but please advise...
Last year he mentioned possibly doing some genetic testing (fragile X in particular) in the future, but I honestly don't remember why. We are not planning on more children. Would this still be beneficial information to have?
Also, DS has had a one hour EEG which was normal. Since then, both his preschool teacher and his behavioral specialist at the school have asked me (at different occasions) if he'd ever been evaluated for seizures. This has me concerned because they are obviously seeing something going on with him and have seen more kids than I have w/r/t seizure disorders. Should I bring this up today? What would even be the next step? FWIW, a have a mom friend whose son has severe seizures (recently had an implant to help regulate them) and she told me that his EEGs have always been normal. I'm scared that I'm missing something.
Re: One year follow-up with dev. neurologist later today
I normally lurk but wanted to offer my 2 cents.
We did genetic testing with our DS. We do plan on having more children but they wanted to get it done no matter what. They took cord blood at birth and found a small deletion on chromosome 3. They wanted to know if his CDH was related to the chromosome deletion. If he was the only one with the deletion, that could be cause for his CDH. I also have the chromosome deletion, so they do not think it is related since I am fine.
Honestly, I would bring up any concerns you have. As a parent, you worry about your child, and they only way you get answers is if you ask the question. You won't want to make a special appointment down the road so you might as well get it out of the way now! Good luck!
I wasn't able to answer on time for your appointment, but genetic information would be good to have even if you are not having any more children.
One of Nate's deletions has several known issues affecting multiple systems; kidneys, spinal cord, eyes, & brain. We were able to rule out kidney issues and tethered cord. The papers about his genetic deletions and potential other issues made me feel more secure that we had covered all of our bases in regards to scary health stuff fro him that could come up in the future.
Also, it is good information to have for your son in case he ever wants to have biological children of his own. A deletion or duplication may cause small problems in one generation but big problems in the next.
As far as the EEG thing, you may want to do an extended one (more than an hour). It's a crap shoot on those short EEGS to try and catch a seizure. I hope you appointment went well and you have further direction.