Genetic Testing Tomorrow, Can You Give Me a Rundown?

[AndVeeGeeMakes3]

VeeGee's going to have a full spectrum of genetic testing tomorrow, and I'd love to hear about what that might involve. I understand that it's probably different for everyone, but I'm curious as the general process.

MotherWhimsey ~ it's with Dr. Lampher, any familiarity with him?

[MotherWhimsey]

Don't know dr Lampher, but we're up on 8 again if you get bored. We might go home this afternoon though.

Dr. R. is the geneticist that I don't like.

Our genetics appt took a while, they go over the history (did you fill out all the papers that they sent you? if not get there early and ask for the papers because it's a ton). And they might send you up to the lab to get blood taken if there's anything in particular they have in mind, or if she hasn't had a chromasome test (which I'm thinking that she most likely has).

[2boyzmama]

Hi! Facebook wouldn't let me respond to you there, so I'll just post here!

For us the first two genetics appts were frustrating, it wasn't until the third that we were tasken seriously and the right testing was done. That shouldn't happen for you, VG has more going on than Connor did.

They will ask you for a detailed family history, so call everybody you can and ask for medical info. Does anyone have cardiac issues? Learning disabilities? Psychiatric issues? Gather pictures of family members if you can (particularly her birth parents, grandparents, and siblings if she has any).

The dr will build a family tree and note any issues and look for a trend if there is one.

The dr hopefully will have already reviewed her medical history, but be ready to answer a million questions about that. They may do a physical exam, but probably only if they are looking for something not already noted (in our case, they wanted to look at Connor's feet because the big toe is characteristic in 22q kids).

You may start by seeing some med students or residents who will take all the info to the dr himself, or you may start with the dr, that varies by clinic. If the dr suspects something, you might then get to talk to the genetics counselor, or they might wait until tests come back.

Most likely they'll run a microarray on her, unless the dr is so sure of the diagnosis and orders just the FISH for that chromosome. A cousin of mine recently went to genetics and the dr was so sure of Fragile X that he only ran a CGG test, if that's negative then they'll do a microarray. That will vary based on clinical symptoms, dr's preference, and your insurance. They did a microarray on Connor because they had no idea what syndrome it might be (although I was sure it was 22q, they were not).

SO...what else? What else can I answer?

[AndVeeGeeMakes3]

What's the big toe thing?

[AndVeeGeeMakes3]

Originally Posted by MotherWhimsey

Don't know dr Lampher, but we're up on 8 again if you get bored. We might go home this afternoon though.

Well, for your sakes, I hope you're home by tomorrow. Our appointment isn't until 2:15, which sucks, cause I imagine we'll be there forever, and we're planning to drive back home tomorrow evening, probably right at rush hour . If we get there early enough, I may buzz up there (though if they see her through the "peep hole" they might not let us in - - she's got a serious rep!!!).

[MotherWhimsey]

well we're in room 8 on the green pod. Who knows when we'll go home, we're trying to restart feeds and right now it's not happening, but maybe he'll pick up a bit this afternoon and make it to full feeds. Right now we're at 20 and we have to make it to 63 before we can leave, so we have a ways to work up.

[2boyzmama]

http://images.google.com/imgres?imgu...26tbs%3Disch:1

Hope this link works!

The big toe is abnormally large in 22q, which is an odd finding. There's a picture on the cover of Dr Shprintzen's book. I have the book, but I loaned it out to Connor's teacher, so I don't have it in front of me. I think he said that it has to do with the vascular and pulmonary issues related to the syndrome...same as the tapered fingers...the baby in utero doesn't get the same peripheral blood flow as a "normal" baby, so there are subtle limb differences.

[AndVeeGeeMakes3]

:, MW, that Linden gets up to 60. I'm sorry I haven't been following what's been going on with y'all.

Sam,
Well, them there toes look awfully familiar!!! And her fingers, well, I dunno, they're really thin and long. I don't know if they'd be called tapered or not. One thing that's funny about her toes is that her toenails never grow -- like, I've only cut them about three times, ever.

As K and I were just talking about, we're not worried about any of this amazingly (bigger fish to fry I suppose), but we'll be glad to get a fuller picture of what we're dealing with. It feels like the "treatment" won't really change no matter what, just that we'll be on alert for different things down the road.

I'm really excited that he's going to get to go with us tomorrow, particularly since he may have some family history answers that I don't know.

[Lindsay1234]

"room 8 on the green pod" Umm, what?! LOL

I think the genetic testing was one of the easiest appts. They took a fairly tame history of me and DH. Then asked a couple follow up questions to dd2s chart, did a 5 min physical exam and then left for 5 min and came back and gave us a summary of what they physically saw and what they are concerned about and then sent us for the microarray. I think it took an hour and a half, start to finish.

I think the worst part was when they listed off the "different" things about her. I wasnt prepared to have all her physical differences told to my face and I cried a little. (for just a couple moments)

GOOD LUCK!!!

[2boyzmama]

Originally Posted by AndVeeGeeMakes3

:, MW, that Linden gets up to 60. I'm sorry I haven't been following what's been going on with y'all.

Sam,
Well, them there toes look awfully familiar!!! And her fingers, well, I dunno, they're really thin and long. I don't know if they'd be called tapered or not. One thing that's funny about her toes is that her toenails never grow -- like, I've only cut them about three times, ever.

As K and I were just talking about, we're not worried about any of this amazingly (bigger fish to fry I suppose), but we'll be glad to get a fuller picture of what we're dealing with. It feels like the "treatment" won't really change no matter what, just that we'll be on alert for different things down the road.

I'm really excited that he's going to get to go with us tomorrow, particularly since he may have some family history answers that I don't know.

It's funny that I never noticed Connor's toes before...I noticed his abnormally small feet (he wears size 5 shoes and will be 3 next week, Ian wore size 5 at 12 months old) but I hadn't noticed his big toe. Interestingly, my husband has giant big toes (and almost non-existant pinky toes) but his 22q FISH was negative, so obviously it can happen outside of a syndrome.

And you're right that it probably won't change her treatment. For us it's comforting to have a "name", a "prognosis", a "cause", "direction", you know?

Anyway I hope it goes well!!!!

[AndVeeGeeMakes3]

Yeah, VeeGee's feet are a size 7.5 at 4.5 years. Way small. Of course I've been googling every Schpritzen syndrome and VCFS again today. And Of Course I'm seeing all that stuff: wide-ish face, but so is K's; wide-ish-set eyes; and the runo'thamill LD stuff. I suppose the cardiac stuff is what I'm starting to be concerned about.

[2boyzmama]

Originally Posted by AndVeeGeeMakes3

Yeah, VeeGee's feet are a size 7.5 at 4.5 years. Way small. Of course I've been googling every Schpritzen syndrome and VCFS again today. And Of Course I'm seeing all that stuff: wide-ish face, but so is K's; wide-ish-set eyes; and the runo'thamill LD stuff. I suppose the cardiac stuff is what I'm starting to be concerned about.

Don't worry about the cardiac. It's HIGHLY unlikely that she has anything substantial if it hasn't been found by now. When we got Connor's 22q diagnosis, we were sent to cardiology SAME DAY as a "semi-emergency" walk in appt. Which kind of freaked me out, understandably! But the cardiologist immediately said "calm down, don't worry, if there is something there, it obviously isn't emergent since he's sitting here smiling at me!" So she took her time, did a thorough exam, we did an echo and an EKG. They found a grade 1 murmur, but that was IT. And she was so unconcerned by it that we don't even have to follow up with her, ever!

What I'd be more concerned about in your shoes is her carotids. She's had several procedures in the craniofacial area already, and has her trach fistula repair coming up. If she has 22q, her carotids might be displaced (medially, I believe) and the surgeon needs to know that before he goes in there and accidentally cuts one!! I assume that they would have noted that when they did her p-flap repair, but you never know!!!! I am constantly reminding Connor's drs of that, even when his ENT put in his ear tubes, which should not effect his carotids at all, I am just very cautious of that.

[MotherWhimsey]

well, he failed on feeds, so it's looking more like we'll still be here tomorrow if you guys get bored and want to drop by. They have medical play down on 2 at the stage at 11, and hopefully we're going to that, but aside from that, we're just sitting up here waiting for his gut to kick back in.

[AndVeeGeeMakes3]

Oh, Courey, I'm so sorry. We're leaving here at about 10am, so we won't get there until 1:00, if we don't stop.

What can I bring you???!!! Please let me bring you something! Does Linden need anything, either?

[MotherWhimsey]

we're pretty much set. He's all buddy buddy with the child life ladies, so he's got toys a plenty. lol. No idea when we'll be getting out, just depends on how well he tolerates feeds tonight. So we could be out before then, but maybe not. No idea. We're listed though, so the desk lady will be able to tell you if we've been discharged or not.