Genetics testing is back

[AndVeeGeeMakes3]

We were at Vandy yesterday for the aerodigestive clinic (for which the GI didn't show ), and the ENT was looking over VeeGee's record and said that the genetic screening was back . . . and that it wasn't 22q deletion. Hmm? He said, "looks like something with chromosome 14." And that was it. Great. No more info. So, when we got home, of course I googled like crazy. And of course it's so rare that there's almost no info readily accessible (that I've found at any rate).

We got the letter today from the geneticist:

"Results showed that there is extra chomosomal material on the long arm of chromosome 14 . . . This result may be the explanation for VeeGee's findings."

So, there ya go. The lab is offering free testing on her bio parents, which, of course adds a fun wrinkle to all this since we're going to have to let them know that they probably should not have more children. I'm sure that will go over well.

I can't find anything about prognosis, though the "symptoms" that I did find are pretty much dead-on consistent with VeeGee's stuff.

Anyone have any input? A shoulder to cry on?

Oh, during the sleep study they found that she is having relatively significant apnea and is not having very much REM sleep. She spends most of her time in extremely deep sleep. Which explains the fact that we can have a rowdy party right outside her bedroom and never wake her. Small blessings I guess.

[sbgrace]

I don't have experience in this area but I do know the feeling of hearing/seeing a dx. officially. It has to be even worse when you're "prepared" for one thing and hear another.

What did they suggest for the apnea?

[2boyzmama]

I just sent you one link with a few other kids who have T14 mosaicism.

[AndVeeGeeMakes3]

Originally Posted by 2boyzmama

I just sent you one link with a few other kids who have T14 mosaicism.

I didn't get it. Did you send it on FB or to my regular e-mail? Is this it:http://www.livingwithtrisomy.org/trisomy-14-links.htm? Most of the links there are dead or not very active.

Rachelle, the apnea may mean a new surgery because they used part of her adenoids to create the pharyngeal flap, if I remember correctly. At any rate, the ENT said to get an appointment with her surgeon ENT.

[LynnS6]

[askew]

Finding out is the hardest part. Have you been to Unique? You can find a lot of info there and connect with other parents whose children have the same duplication.

I also would not assume that VeeGee's birth parents can't have more kids. In something like 90% of the cases the chromosome order is random, or de novo, and the parents don't carry the error.

[AndVeeGeeMakes3]

Originally Posted by askew

Finding out is the hardest part. Have you been to Unique? You can find a lot of info there and connect with other parents whose children have the same duplication.

I also would not assume that VeeGee's birth parents can't have more kids. In something like 90% of the cases the chromosome order is random, or de novo, and the parents don't carry the error.

Thank you. The web site looks interesting.

I don't know if this is harder than anything else really, because it doesn't change our lives at all, really. I think what's eerie (for lack of a better word) is just having a name for what we've been living with all this time. I had kind of adjusted to the idea that it was 22q, and this is so different, so utterly different and unusual, that it's a new paradigm. Does that make sense? There are less than 1000 documented cases of this, which means, if we allow it, that she's going to be kind of a lab rat. And allowing it is probably what we'll do, just so other people can have a "path" to follow, or preview, or whatever.

As to the de novo issue, you are right. And we wouldn't think anything other than that, except that her birthmom has had many of the same symptoms that VeeGee has had, and so the geneticist thinks it's fairly likely that this is inherited. And that's such a fraught issue on so many levels (she's my half-sister-in-law) that bring on so many sad implications (she was 17 when VeeGee was born, so if that was her one and only chance at having a child, it's pretty heartbreaking, ya know? She would, I imagine, never be able to even adopt since she has a dependency and neglect TPR in her history.).

We're interestingly sort of nonplussed about this whole thing. Maybe it will just take time to sink in. Maybe it's because the anomaly (I don't know what else to call it) is so dang rare and therefore not much info available, that we don't know what to be scared of. I don't know. I'm sad, sure, but also just ready to figure it all out.

[2boyzmama]

I understand.

I very clearly remember the few days between when we knew Connor's test was back and our appointment (they wouldn't tell us over the phone, only in person, so we had to wait about a week). My mind went everywhere, so scared!! When we got to the appt, I was braced for it to be something awful, so when they told me it was 22q (which is what I had suspected) I was visibly relieved! I was READY for 22q, I had researched it, I felt like my brain had a grasp of it. I was NOT ready for it to be anything else.

Of course then over the course of the next few days it sank in that the diagnosis was "real". I had literally dreamed of "diagnosis day" for so long (well, for 11 months since that's how old he was) so my brain had trouble accepting that it was finally real.

And, same for us, the diagnosis changed very little, we had a few more things that we needed to get checked (full cardiac workup) and we had a few things that we needed to keep in mind, but really day-to-day didn't change.

But a name...we had a name...

[khaoskat]

Did they say if VeeGee's sleep apnea was obstructive or nuerological?

[momtoalexsarah]

I have to admit from where I sit - the diagnosis of NOT 22Q gives me a little hope. Megan is of course geneticly negative for 22q - but symptom wise is spot on. On intestesting fact - only 90% of CLINICAL VCFS cases are geneticaly positive for 22q. So that means that in 10% - like in VeeGee and Megan, that the symptoms are caused by another annomily. And in the end - as with all VCFS kids the out comes are as varried as the kids and symptoms themselfs.

[AndVeeGeeMakes3]

Originally Posted by khaoskat

Did they say if VeeGee's sleep apnea was obstructive or nuerological?

Yes and yes. Both. (????????????)

Originally Posted by momtoalexsarah

I have to admit from where I sit - the diagnosis of NOT 22Q gives me a little hope. Megan is of course geneticly negative for 22q - but symptom wise is spot on. On intestesting fact - only 90% of CLINICAL VCFS cases are geneticaly positive for 22q. So that means that in 10% - like in VeeGee and Megan, that the symptoms are caused by another annomily. And in the end - as with all VCFS kids the out comes are as varried as the kids and symptoms themselfs.

Yeah, and because VeeGee is "mosaic" it means that we may never know what causes the "stuff." We guess that's pretty much like every kid on earth, right? We were talking, and decided that, probably, a lot of us are "mosaic." I know in my family (my half-brother has Down syndrome) we've often joked that Ben's stuff is eerily similar to the rest of our "stuffs."

And, yet, the largest number of Trisomy 14 Mosaic people present with leukemia and/or lymphoma and Tetrology of Fallot, so now there's this "other shoe" kind of feeling. I dunno. We're freaked, and not freaked.

[queencarr]

I poked around, and came up pretty empty for you, too. But I do know what you mean about not having enough other cases to compare to and how frustrating that is. I can't find a single example or case study of a baby/young child with Isaac's syndrome, as the few cases there are (I've read there are about 250, and supposedly none in Asians according to one source LOL) were apparently diagnosed around puberty. And even so, he has some signs that are apparently not standard (the pitted ears, the probable submucal cleft, the swallowing problem). Late at night, when I am up for the gazillionth time, I wonder if we have two syndromes going on, but the geneticist didn't think so, and neither does the plastic surgeon. So I guess all I can offer is a sympathetic ear.

Other than to check her p-flap, what were the recommendations for the sleep apnea? I remember the PS from this summer saying that obstructive SA was a risk factor of the surgery, but seem to recall that it was fixable, so I will hope for an easy answer for you.