[crazycat]

We are waiting for test results for this, along with other chromosome studies and muscle tests, for my 5-year-old son. After reading on it, I will not be surprised with a positive result. He really fits the profile very well, and my own childhood difficulties with shyness and social anxiety would also fit. But I am confused about one thing - it seems the kiddos with low muscle tone are floppy from birth, and he was not. He had no signs of low muscle tone until he was a toddler (hyperflexed knees when he stood and never got the muscle definition in his legs that I see in other kids after he started walking.) He sat at about 8 months, crawled at about 10 months, and walked at 12 months. No gross motor delays and fine motor tested low at 2 1/2 years but not low enough for services. Can that still be typical of fragile X? He also potty trained and talked earlier than most kids it seems, esp. those with an autism Dx, which he does have, but everything else fits pretty much like a glove. I hate the waiting part ... they told us about 3 weeks for results, which means still another 2 1/2 weeks to go.

 

[kittynurse]

We just did our bloodwork yesterday so I would love to chat about it. I'm just running out to get DS1 from school - will come back to talk after dinner!

Martha

 

[ericswifey27]

We are awaiting results also- our son just turned 6.

 

[UptownZoo]

The waiting is sooo hard! I remember waiting for Carter's genetics panel to come back; I was on pins and needles. We also were prepared for a fragile X dx, but it came back negative.

So, obviously no answer since Carter doesn't have fragile X. He was like an overcooked noodle from birth, but it's neither here nor there in this context. I hope the next 2 1/2 weeks goes quickly for you!

 

[crazycat]

Thank you for the replies! It's nice to have company for the wait, although sorry you are both going through the torture as well ... tonight we are staying up for a sleep-deprived EEG ... why is it I always feel more tired than my kids appear with these things?? We went through all of this with DS1, too, but it sure doesn't get easier. But the genetic stuff wasn't so stressful in that he is adopted, so it didn't have the same implications for extended family if it had been a positive result. Oddly, though DS2 seems to fit the fragile X profile almost perfectly now (other than what I mentioned above), I had never even considered it for him until the neuro brought it up ... DS1 was tested a couple of years ago and after that I never gave it a second thought, although DS2 did NOT appear to even remotely fit at that time. I suppose that's why.

Thanks for the support also Uptownzoo - it's nice to know others have made it through the wait and survived, lol. =)

 

[ericswifey27]

Quote:

Originally Posted by crazycat Thank you for the replies! It's nice to have company for the wait, although sorry you are both going through the torture as well ... tonight we are staying up for a sleep-deprived EEG ... why is it I always feel more tired than my kids appear with these things?? We went through all of this with DS1, too, but it sure doesn't get easier. But the genetic stuff wasn't so stressful in that he is adopted, so it didn't have the same implications for extended family if it had been a positive result. Oddly, though DS2 seems to fit the fragile X profile almost perfectly now (other than what I mentioned above), I had never even considered it for him until the neuro brought it up ... DS1 was tested a couple of years ago and after that I never gave it a second thought, although DS2 did NOT appear to even remotely fit at that time. I suppose that's why. Thanks for the support also Uptownzoo - it's nice to know others have made it through the wait and survived, lol. =)

You'll have to share what helped and what didn't for the EEG process...we have a sleep deprivation EEG scheduled for next month...but it is not until 130 in the afternoon. We are supposed to put him to bed at 12 wake him up at 4 the next morning and then keep him up until 130 the next day

I am wondering how I will stay up to make sure he doesn't fall asleep...and what about the car ride over there.

I hope all goes well for everybody.

 

[crazycat]

Well, we survived the EEG and it was not nearly as traumatic as the blood draw, thankfully. It did really help to find some pictures of the cap and wires online and kind of walk him through what to expect. (Also helps having been through it with DS1 before so I know what to expect, too!)

But now the neuro's office has some blood tests back from one of the older two (both had blood work done last Friday) and they are all messed up there - kept asking me which one had a Depakote level done (neither?!?! - nobody takes Depakote in our family ...) and they were confused as to whose test results they actually were looking at ... not a good sign ... I think we'd need sedation to get another blood draw from my 5-year-old ... sigh.