We saw the geneticist again today, a follow up. He asked all sorts of leading questions, asking me how much she’s developed, where she scored on her last evaluations at school, if she’s regressed at all, any seizures, hand motions, etc. I think it shows how much time I’ve spent on the internet that I knew what he was trying to lead up to and the different syndromes he brought up.
So…
We’re testing for Fragile X - not so much b/c he thinks that’s what she has, but more b/c it’s the main reason for delays like Maura’s and we haven’t tested for that yet. It affects boys more than girls, so the odds are low that she has this. It’s possible, but not enough to bet on. If she has this, it’s a mild case he thinks.
The other one we decided to test for is Rett syndrome– which he’s again, pretty certain she doesn’t have. I’m with him on that one as I’ve looked into it myself. However, there is a slight chance she could have atypical Rett’s, which is where you have pretty much just the delays, and none of the regression, loss of skills or other health issues. He said that if this is what she has, she would be VERY atypical even. I said “Well then that’s what she must have since she loves to be different!” LOL! He wasn’t even going to test for it, but I asked if we could, more to know for certain she doesn’t, and since we were going to draw blood anyway. He was fine with that and said “Yes, that’s why we’d run this test, to rule it out, more than because we suspect it.”
Anyway, I’d prefer for her not to have Fragile X, and would be okay with mild atypical Rett’s with just the delays. It would at least be an answer. Of course, that would be the only answer b/c she doesn’t present even like a typical atypical Rett’s girl, so we wouldn’t have a clue as to what her future would be.
Really, he said at this stage, NOT having a diagnosis is a GOOD thing, b/c we don’t have a syndrome with health issues or whatnot. And also, at this stage, we could keep testing but it would basically be a crapshoot. So if these two tests come back normal, we’ll just touch base in the next 2-3 years to see if anything new has popped up on the radar that will match up with Maura, providing she doesn’t regress or stop learning or has seizures or something like that.
But I’m almost positive that these tests will come back normal and am fine with that and embracing the fact that we’ve done all we can to figure Maura out. Quite frankly, I’m tired of trying to find something and she’s doing just fine anyway.
So…
We’re testing for Fragile X - not so much b/c he thinks that’s what she has, but more b/c it’s the main reason for delays like Maura’s and we haven’t tested for that yet. It affects boys more than girls, so the odds are low that she has this. It’s possible, but not enough to bet on. If she has this, it’s a mild case he thinks.
The other one we decided to test for is Rett syndrome– which he’s again, pretty certain she doesn’t have. I’m with him on that one as I’ve looked into it myself. However, there is a slight chance she could have atypical Rett’s, which is where you have pretty much just the delays, and none of the regression, loss of skills or other health issues. He said that if this is what she has, she would be VERY atypical even. I said “Well then that’s what she must have since she loves to be different!” LOL! He wasn’t even going to test for it, but I asked if we could, more to know for certain she doesn’t, and since we were going to draw blood anyway. He was fine with that and said “Yes, that’s why we’d run this test, to rule it out, more than because we suspect it.”
Anyway, I’d prefer for her not to have Fragile X, and would be okay with mild atypical Rett’s with just the delays. It would at least be an answer. Of course, that would be the only answer b/c she doesn’t present even like a typical atypical Rett’s girl, so we wouldn’t have a clue as to what her future would be.
Really, he said at this stage, NOT having a diagnosis is a GOOD thing, b/c we don’t have a syndrome with health issues or whatnot. And also, at this stage, we could keep testing but it would basically be a crapshoot. So if these two tests come back normal, we’ll just touch base in the next 2-3 years to see if anything new has popped up on the radar that will match up with Maura, providing she doesn’t regress or stop learning or has seizures or something like that.
But I’m almost positive that these tests will come back normal and am fine with that and embracing the fact that we’ve done all we can to figure Maura out. Quite frankly, I’m tired of trying to find something and she’s doing just fine anyway.
I envy your wonderful attitude!
Me too.
: I mean, maybe in a year or so, I'll be ready to start up again, seeing if we can find an answer. But right now, it seems sort of pointless since medicine refuses to catch up with Maura 
