EK update
Just finally catching up with some of the (too much) info we’ve been given, so I’m trying to drag myself out of lurkdom (here, online, in real life) & “get back on the horse”, so to speak.
So…
We finally got a diagnosis for EK, which only means that we have a whole slew of new questions to be answered (of course). For those who want the big long technical part, this is it: 46,XX, ish der(1)t(1;16)(p36.33;q24.3)/CEB108/T7-,16PTEL05+). Its all perfectly clear from that, right??
Translation? EK has a 1p36 deletion, with a 16p trisomy replacement. Still confused? The very tip-top end of one of her Chromosome 1’s is missing, and it has been replaced with a duplicate end of Chromosome 16.
What does it mean? Well, thats where things get fuzzy. They have a lot of information — well, not a LOT, but… — about a 1p36 deletion. Unfortunately, with each possible replacement, the specifics change, and they have no record of another 16q replacement. So we’re kind of in blind territory.
Normal things they expect with a simple 1p deletion (no replacement) are: heart problems (enlarged heart, defects); increased seizure risk (50%); hearing loss over time; irregular testosterone levels; low muscle tone (tho virtually all children with this deletion will eventually walk); develop low thyroid (20%); degenerative eye problems (cataracts, etc) developing over time; swallowing problems; slow growth; short stature; developmental delays; learning difficulties. Yeah. I’m sure there is more, but honestly, I have trouble keeping track sometimes. What to expect with a deletion and a replacement? No one can say for sure.
So, for the time being, we are seeing all the specialists to rule out things, and to get baselines on the other things we need to monitor. So far, she has been cleared by the cardiologist — no defects on exam, EKG, or echocardiogram. (YEAH!!) In the next month, she will be seeing an audiologist, an ophthalmologist, a peds ENT specialist, have cranial xrays, be screened by a birth-to-three program for developmental analysis, and and and…. Tuesday alone we were at 3 different drs offices (PT, peds, and cardiologist); plus it was flu shot clinic day, so we were back again that night for that.
The genetics counsellor said we should go ahead and get her qualified for SSI disability, because she will qualify for it with this diagnosis. HOnestly, its not what I was expecting, and that took some time to get used to.
She is going to be one year old next week — my, how time flies! — and we are hoping she will be close to crawling by then! She can sit up if we sit her up, but she can’t get to sitting by herself (doesn’t pull up at all), and has just started to commando crawl this last week (after 2 months of weekly physical therapy). She does play patty-cake, and peek-a-boo with the kids, and has started teasing them and then giggling when they react, so thats good. (The other morning she was watching her dad sleep, and she kept hitting him — once — in the face, then giggling while she waited for him to react… wish I’d had the video camera to capture that one!) She just started babbling this last month (says ‘da’ and ‘ba’ now, and blows raspberries of a sort); can’t wait to find out if she has a hearing loss already and that is why she is so delayed doing that.
But, on the up side … she’s adorable, and happy, and easygoing, and a wonderful addition to our family! (Can’t keep the kids away from her! LOL)
So. Back to your regularly scheduled programming. And hopefully I’ll be back to a little more normal, soon, too.