Bummer dx - sadder than I want to be

[AndVeeGeeMakes3]

Genetic testing underway, but it's pretty clear that she has 22q deletion syndrome. I'm really grateful to 2boyzmama that I kinda already knew that, and knew what to expect. but . . . .

it's still really really really crappy. Ya know what got me? The fact that she has a 50-50 chance of passing it along to her child, should she choose to have one. Which means (in my mind, though it will, of course be HER decision) that she will not have biological children. And, of course, as her adoptive mom, I know that that is not the end of the world, that she will still be able to be a mom if she chooses to. But it's not going to be easy breezy (the becoming part), not going to be without a bunch of thought and re-thought and weighing. It's not going to be just, "let's have a baby now." I know, firsthand, that that can be so very deeply heartbreaking. And that's what made me most sad today.

I'm not all that scared about the other stuff. The dx isn't going to change our day-to-day. It may help her teachers understand her better, give her a break when she needs/deserves one. And we'll have things we have to watch for. But nothing will really change for us. I'm also sad about what this probably means for her birthmom, who's young (she also had a cleft palate and, it appears to us, other symptoms of 22q), and who may want to have children in the future that she can parent.

I'm just sad. Sadder than I really want IRL (besides you, you know who you are) people to know.

[Lindsay1234]

I understand.

[2boyzmama]

A hug just doesn't suffice.

Did they tell you 4 weeks? They told me 4 weeks, but I know the results were in sooner than that because I got a call during week 3 that the geneticist and dev ped were added to his cleft team appt because they "wanted to discuss something" with me. Do you have a follow up appt, or are they just going to call you?

I also am really saddened by the fact that Connor likely won't have kids. I know that he has options, he could choose to do IVF with PGD. It will be his decision. But *I* would make the decision to not go that route, it's a highly personal decision, it forced me to consider where my moral/ethical lines are drawn, and my husband and I came to the conclusion that if our 22q test came up positive, we would choose to sterilize and not have more biological children. It kills me that he will be faced with that decision.

And that's even *IF* he marries (or chooses a partner without marriage). Will he ever be "normal" enough socially to be in a stable partnership anyway?? Ugh.

One thing that I have NOT come to terms with yet regarding this syndrome is the psychiatric aspects. www.vcfsef.org has links to information regarding the psychiatric components of 22q. I can handle the learning disabilities (I think, anyway). I can handle the medical stuff. I am aware of the chances of mental retardation or cognitive deficit, and I think I'm okay with it. But for some reason I haven't come to terms with the psychiatric stuff. I'm sure it's my own bias, and I need to work on that. That's the hard part for me. To think that he might become schizophrenic? For some reason that scares me to death!

There is a book written by Quinn Bradley, it's called A Different Life. He's an adult with 22q, and he writes about his experiences growing up. I read the book, and it gave me some insight. In a lot of ways it doesn't/won't apply to Connor (or VeeGee) because Quinn came from a very wealthy family and was sent off to boarding schools, travelled the world, etc. But just reading how he writes, reading about how he lives today (semi-independently), reading the things that he has trouble with (driving, directions, reading). It was enlightening, sobering, sad, and hopeful all at once. Weird, I know.

[AndVeeGeeMakes3]

Yeah, the psychiatric stuff was a big blow. I don't know how I'd missed that before. And the really crappy thing is that there are already little signs of aggression.

Man. We really need some good news around here.

We have a followup appointment in two months, though they anticipate calling us beforehand. What he said was that they typically have the results within a month, and that, if it came back positive, they'd call before the 2 month appointment. We've got the aeorodigestive clinic on the 12th, but he said it would be doubtful that we'd have the results by then (though he said it's possible).

You know what was funny? They did the family tree thing, and they asked ME questions about my family. I can't for the life of me think why. (As, you know, K and I don't look anything alike, so we're clearly not closely related )

[2boyzmama]

Originally Posted by AndVeeGeeMakes3

You know what was funny? They did the family tree thing, and they asked ME questions about my family. I can't for the life of me think why. (As, you know, K and I don't look anything alike, so we're clearly not closely related )

Same thing happened with my mom...she is the guardian of one of my cousins (long story, you understand disjointed families!) Mom took her to see a geneticist (she likely has Fragile X) and the paperwork she had to fill out before hand said to answer questions about both sides of the family EVEN IF THE CHILD IS ADOPTED. WTF??? Mom called to verify that they meant the birth parents' families only, but the clinic said no, they want the adoptive family info too.

I have no idea why. They're geneticists...hello???

[2boyzmama]

Originally Posted by AndVeeGeeMakes3

Yeah, the psychiatric stuff was a big blow. I don't know how I'd missed that before. And the really crappy thing is that there are already little signs of aggression.

There's a little aggression in Connor, but only towards his brother and the dogs, which I think so far is "normal".

I see more signs of early obsessive behaviors, which concerns me. He will get fixated on something and just. not. let. up. I've wondered from time to time if that was connected to anything... Then I wonder if I'm just looking for problems where none exist.

[MotherWhimsey]

[AndVeeGeeMakes3]

Hey, MW. We didn't get there until just in time for our appointment, and then she (and, really, us too) had a meltdown after the blood draw. I'm sorry we didn't get up there.

[queencarr]

you really need a break already. Just take it a day at time, and not look too far down the road. That's what I do when it gets overwhelming

[MotherWhimsey]

Originally Posted by AndVeeGeeMakes3

Hey, MW. We didn't get there until just in time for our appointment, and then she (and, really, us too) had a meltdown after the blood draw. I'm sorry we didn't get up there.

No problem. We finally got out this afternoon, so we're home now.

[AndVeeGeeMakes3]