I know i know! I forgot to blog how last Thursday’s appointment with the neurogen lady went!
Basically – it was a lot more of the same. 309 things she DOESN’T have, but no real answers on what it MIGHT be. Other than, she has a chance of just growing out of it, a chance of it being a chromosomal defect with a good life expectancy, or a chromosomal defect that will limit her life expectancy. I of course only heard her saying “she’ll either be fine in three months or dead in a few years” – Ben with the cooler head heard that there is still a range of things that we can look for that may be fixable/treatable, as well as a chance that she does have “Benign Congenital Hypotonia”, and will just wake up one day to all her neurons firing correctly and start catching up. The doctor said that typically happens for most kids with BCH between 6 months and a year of age – and that it just takes their brains that long to realize that they are no longer in the womb and have to start working on their own now.
While I hope with every cell of my being that this is the case for Kendall Quinn, it’s just not enough for me to sit back and relax. It doesn’t tie all of her other issues up nicely in a pretty little package for me. Not yet at least. Maybe after a good black and white lab report comes back in my hands showing me that a, b, c, and d are totally negative, i’ll believe it. When everyone was hollerin’ up the cystic fibrosis tree, when I got her sweat test back as TOTALLY low, it was enough for me. I could see it in black and white. I KNEW that wasn’t her problem. But I don’t have that now.
So we went to the lab and had 9 vials of blood drawn, dropped off two jars of fecal matter (so gaggy!), and managed to squeeze about a tablespoon of urine out of her to run about 30 tests. I forgot to copy down what they are running, but i know they (both GI and neuro) are definitely looking at things that have not been looked at before. Testing her thyroid, metabolism, fatty oxidation, protein breakdown, blah blah blah. I think the neuro didn’t even specifically tell me what all she was testing for – just listed a bunch of random stuff!
So – that’s that. We follow up with GI in milwaukee on Sept. 9 (09-09-09 – what an awesome day!). In the meantime we have to go back up to have this metabolic testing done in a lab. I have to schedule that still. Neuro says to call back in a couple weeks to see what results are in, and then we’ll schedule follow up from there to discuss the results of that testing. So its a lot more hurry up and wait. She is doing pretty good now – i think she is comfortable and making definite strides! I have lots more catch up posting to do so i’ll end this one here. That’s our week O’ testing updates!