Thursday, January 21, 2010

"The Appointment"

I think that appointment is going to live on in infamy in my mind for a very long time. Not only was it downright awful but those are the kind of days where you really "feel" your child's disability and how rare and debilitating it is. She is doing awesome, don't get me wrong, but days like that of poking, prodding and talking about it puts it all under a microscope. I hate days like that.

Anyway... first things first. What tests we do now. EEG to check for seizures. Yup, seizures. Fun! New genetic test to check for anything that was missed on her genetic screen done in 2008 which is apparently an inferior test to what is available in 2010. Full blood panel (done yesterday) to check her thyroid, endocrine function and her baseline numbers for general blood tests. We are looking for a culprit on why she eats so much but fails to grow. (At 30 months she is still at 22lbs.) If that blood-work is normal we will move on to a full metabolic and endocrine work up. Meeting with nutritionist to figure out her caloric needs. If she is meeting her caloric need but fails to grow we know we need to keep looking. Functional visual assessment to look at the dysmetria and visual processing issues. Sleep study to see what is waking her up in a blind panic. We can wait on this one until the others are done. She isn't going to need another MRI until after her next follow up but she had some thinning in the CSF in her cerebellum that we will need to monitor throughout her lifetime.

In terms of expectations he is very pleased with how she is doing. He unfortunately saw her falling episodes so got to see first hand how tough it can be for her. He feels that the ataxia and lack of protective reflexes are something that could improve in time but will require a lot of therapy and work.

She is now going to have to wear lower leg braces called Surestep braces. They will supposedly help with her leg ataxia. So we'll see how that works.

All in all it sounds like a lot (and I am feeling a little overwhelmed at the moment) but we really can't let anything slip. Something small could seem like nothing but for a kid with a genetic anomaly it could be huge in terms of their developmental and outcome. Hopefully all of this will yield some good information.

1 comment:

  1. My son is 30 years old with RS. He had failure to gain weight also. They thought he was burning off twice as many calories as other kids. He was born 7.6lbs and was only 11lbs at a year. As a young teen he was probably 3 and a half feet tall. We found out he was three years growth delayed. We did testosterone therapy and he grew quite well to now being about 5'9" tall. I left tbe decision up to him when he was a teen. At first he said no but then when he got teased he changed his mind.