Our little Super-Vi had a busy week with doctors appointments. First on Monday, we visited the geneticist. We had been given prior notice by her developmental pediatrician that her genetic testing had come back abnormal. You may remember that they ran a "chromosome" test on her when she was born, which came back normal. Being somewhat ignorant on these things, I thought that meant she was in the clear. Unfortunately, that test doesn't detect the more obscure abnormalities, which is certainly what Violet has. It turns out she has a "triplication" of a small segment that originates from the third chromosome. What does this mean? Your guess is as good as ours! This particular abnormality has never before been reported. . . we always knew our Violet was one of a kind! They went ahead and tested Russ and me to determine inheritance patterns. Those results came back and said we are "normal" (boy do we have them fooled!), so Violet had some sort of mutation of her genes during development. This is good news for us as far as having more children is concerned, but it doesn't help Violet if/when she has children. She has a 50/50 chance of passing it on (one copy is normal, the other has the triplication, so it depends on which copy is incorporated into the DNA of her egg). The geneticist was very nice and I think the appointment went well, but it was a bit frustrating because they can't really tell us anything. They said we are doing the right things as far as the doctors we've seen and the therapies she is getting. They are also going to send us a report with some websites with "parents' forums" so we may be able to find other parents with kiddos similar to Violet. I know every mother thinks her child is extra special, I just have the lab tests to prove it!
Our other appointment of the week was on Thursday for her swallow study. Her previous swallow study on April 16 was a very stressful day for me, as I went in thinking it would be a quick in-and-out type appointment (to confirm that she had no difficulties swallowing) and instead we spent the whole day there getting a feeding tube inserted. This time I was cautiously optimistic that her surgery last month (the palate repair as well as the laryngeal cleft repair) "fixed" the problem and her swallowing would be normal. Unfortunately my birthday wishes didn't quite come true. On a positive note, she didn't fail ALL consistencies like last time. She passed "honey" consistency (you can imagine how appetizing that looks). But this means that we can start working with her on drinking out of a cup, even if the contents move as slow as molasses (or rather honey) while she is trying. We will start some more intensive feeding therapy so that hopefully we can minimize use of the feeding tube with the ultimate goal to get it out at some point. Hopefully before the next swallow study in 6 months, we'll have her eating & drinking like a pro!
Things are certainly never boring with Miss Violet around! Her next appointment is with the ENT on the 22nd. We'll see what surprises she has in store for us that day! Despite the challenges she is experiencing, Violet is the best baby I've ever been around (seriously) and I'm so blessed to be her mommy! Thank you for the continued prayers.
Our other appointment of the week was on Thursday for her swallow study. Her previous swallow study on April 16 was a very stressful day for me, as I went in thinking it would be a quick in-and-out type appointment (to confirm that she had no difficulties swallowing) and instead we spent the whole day there getting a feeding tube inserted. This time I was cautiously optimistic that her surgery last month (the palate repair as well as the laryngeal cleft repair) "fixed" the problem and her swallowing would be normal. Unfortunately my birthday wishes didn't quite come true. On a positive note, she didn't fail ALL consistencies like last time. She passed "honey" consistency (you can imagine how appetizing that looks). But this means that we can start working with her on drinking out of a cup, even if the contents move as slow as molasses (or rather honey) while she is trying. We will start some more intensive feeding therapy so that hopefully we can minimize use of the feeding tube with the ultimate goal to get it out at some point. Hopefully before the next swallow study in 6 months, we'll have her eating & drinking like a pro!
Things are certainly never boring with Miss Violet around! Her next appointment is with the ENT on the 22nd. We'll see what surprises she has in store for us that day! Despite the challenges she is experiencing, Violet is the best baby I've ever been around (seriously) and I'm so blessed to be her mommy! Thank you for the continued prayers.
Here are a couple quick pics of the swallow study. . . she did a great job of doing just what the therapists asked; it's just too bad the final result couldn't have been different!
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