Yes, ds has the COMT issues (looking at what got flagged in his genetic testing), but he does *not* have the defects for the MTHFR genes.
Honestly some of it is really confusing to me and not stuff I've wrapped my brain around yet. There's just tons there I don't really understand. Like take the Rett syndrome genes. Is this something EVERYONE has, but you only have an issue if you're a certain presentation? Or is just having it an issue? So I don't even understand basic things like if it's bad to *have* the gene or if it's only bad to have certain presentations of the gene. I just don't understand it all.
So like when you look at some of this stuff like the MTHFR genes, then there are rs#s that are long, on and on, tons of them. My ds was presenting with 5 for COMT, lots of rs#, and again I don't know if it's having them that is abnormal or having a certain presentation (GG vs. AG, etc.) that is the issue. He had some hissues with MTHFD1, several with COMT, BHMT, and CBS genes. But I have no clue what I'm doing. I'm just trying to learn.
It's pretty cool stuff though. Like this one, BHMT rs567754CT results in attention issues if stressed. Like, hello, that's our kids! Or at least that's my kid. It's why we literally put SO MUCH effort into keeping him calm and lowering stress, because upping his stress axes his ability to connect and be present and do work. So then we spend days lowering stress just so he can reconnect. And there's a gene for it. I was seeing it, but it's interesting to have a gene for it.
He had a CBS gene mutation that is connected with ammonia, and he used to smell like ammonia a lot as an infant.
So yeah, it's been pretty interesting. But when you look at the Yasko methylation testing sample report, his testing is largely the inverse of the more typical undermethylator presentation.