Genetic Testing - ASD related

Junebug060609

Just curious if any of you have done it. It was proposed by DSs developmental pedi today.

Pros? Cons?

coffee bean

We are expecting another child, and the genetic counselor mentioned that genetic testing is now available for ASD. We have twin ID girls, one on the spectrum and one not. I think it would be interesting to know, I'm just not sure what ill actually learn from it, you know?

august06mom

We have have not opted to at this time. His behavioral pedi said it was really only necessary for us if we wanted any more children, and we don't.

typeset

The kid was tested and then we were tested. Pediatric psychiatric geneticists are a hoot. 

Pros: My SsIL got some peace of mind for their kids. My sister and cousins know the increased risk for their offspring. We know which co-morbid condition he's most likely to have and, more importantly, which ones he's not at risk for. The mutation makes the Dx harder to challenge if not a slam dunk. We were able to more closely ascertain the risk of kid two having ASD (although severity remains a crap shoot). 

Cons: Cost, financial and emotional. I will never, ever forgive myself if my younger son is also on the spectrum. My husband doesn't say so, but I doubt he will, either. They don't yet know enough about most of the mutations to make the information useful for treatment or prognosis--if they find anything at all. 

Junebug060609

Thank DSfully, financial costs wouldnt be an issue if we test now. It might be if we defer à couple years. In theory, our entire family of (soon to be) 4 could be tested with no OOP costs to us. Well, guess maybe minimal costs for my tests as i have a slightly different version of insurance than the rest of the fam.

I guess right now my biggest fear is that they would find something and then test DD and find out she has it, too. Ive been scared this whole pregnancy of facing game changing news with her as well. Finding out DS has à poor prognosis would crush me as well.

On a more personal note, I am scared for me if it turns out one or both of my kids got something from me. I know I wouldnt handle finding that out well at all.

typeset

Junebug060609 said: I guess right now my biggest fear is that they would find something and then test DD and find out she has it, too. Ive been scared this whole pregnancy of facing game changing news with her as well. Finding out DS has à poor prognosis would crush me as well. On a more personal note, I am scared for me if it turns out one or both of my kids got something from me. I know I wouldnt handle finding that out well at all.

I asked about testing the baby and was told to not do it unless a need arises. In our case, the mutation doesn't mean for certain an ASD diagnosis. No one else in the family has one, although I'm sure if we hauled everyone in we could ferret out that and more. Quirkiness abounds.  

I would want the information for him regardless as he heads into adulthood and contemplates a family, but he may feel differently. 

Heh. When we sat down with the first geneticist, she started grilling my husband about his social habits. He stopped her and we said, almost together, "It's her you want"/"It's me you're after." The kid got some other pretty bad-ass traits from me, too, though. It's the decision to have the second child knowing the risk and from whence it comes that weighs on me. My husband insists that our particular glitch in the Matrix can't possibly manifest as severe. I know that's incorrect, and I've told him so, but he refuses to believe it. 

mommyof4boys

It was proposed, we got it, and our son has a 16p11.2 duplication which is associated with ASD.

Assembly_Reqd

Nate does not have ASD but genetic deletions. It is beneficial because you get a better idea of what to look out for. You will not get prognosis information, but rather additional health risk info. Nate's genetic deletions had implications for tethered chord, heart defects, and 5 other things. We were able to rule out or confirm those issues instead of being blindsided.

Honestly, if every person in the world had a screen you would find all sorts of genetic differences. Some of them "matter" some don't.

Assembly_Reqd

Plus, it was handy that Jenny McCarthy's child had genetic tests, right? We aren't required to take her seriously anymore. (If people did, that is)

Her son has a genetic syndrome which can present as developmental delays and autistic traits. So he has been 'cured' of Autism by genetics.