Our test results came in today. They told me 5-6 weeks, and I was anxiously awaiting the results... even made this ticker to count down:
This morning I was actually thinking that it's a blessing that the results will take so long to come in. I've done my part, seen all the specialists, got the ball rolling, set up therapy. Now just this morning I was thinking I can sit back and relax. I can pretend there is nothing wrong. Once the test comes in a month from now, I can once again start worrying and all.
But they came today. All normal. I should be thrilled, right? I'm not. Not at all. I was hoping that it would be chromosomal, because if it's something genetic, I'll have to worry forever over my future kids being affected. I was really, really hoping they'd find something with this test.
Chromosomal tests are finite. They look at the chromosomes, the actual physical chromosomes to see abnormalities. As far as genetic disorders... you have to specify what to look for. You want to test for disorders A, B and C? You have to specify them. If the actual disorder is D, you won't know unless you specify a test for it. And there are a MYRIAD genetic disorders! How will he find the right one to test for? Physical clues help to direct, but... *sigh* I'm beginning to lose hope.
Is there a chance she doesn't have a syndrome of some sort? There is a chance for anything. Her huge delays have to stem from somewhere, be it genetic or neurological. Also her physical features: microcephaly, micrognathia, wide set nipples, EARS (shape and low set), skin tag, absence of reflexes in arms, it all points to SOMETHING. Besides, the geneticist is pretty much convinced it's a syndrome.
So the search goes on. I'm coming to terms with not ever getting a diagnosis, so I won't be disappointed when we will be conducting test after test with no results.
The main thing is that we are taking care of her symptoms and with the right therapy she will reach her potential. Her Special Ed teacher already called and will be coming every Monday and Thursday in the morning.
Now for some comic relief.
For your loling pleasure, here are some Yom Kippur funnies:
The kids were pretty well behaved except two Gedalya episodes. First he peed. Not in the toilet. Not on the floor. Not in his pants. Out. The. Window. Yes, he did!
Then he took Kyolic and dowsed the 25 hour candle with it.
Funny Yaya!
Oh my dear. I feel for you that you will have to wait out several other tests and delve into the genetic level of trying to get some answers. I have friends who are currently in your same situation. Chromosomal test is normal but something seems clearly genetically wrong with their little girl (from the parents and doctors perspective). The only problem is her symptoms could be several things and there are not any sure fire disorders they can pinpoint to test. Not to mention the cost of testing at the specified genetic level. Praying that you get answers soon and that the truth of Adi's situation is revealed to those in charge of her care.
ReplyDeleteShe is such a cutie pie!