Monday we'll be meeting with the Metabolic Geneticist to go over the test results and figure out what they mean. It's very uncommon for a carrier of Niemann Pick to be symptomatic and yet Ryan is very symptomatic of Niemann Pick. We also need to figure out if the other children need to be tested to determine if they are carriers of the disease. Could there be other mutations? Could there have been issues with the test sample? Could it have been an issue with the fact that it was done during the holidays? Lots of questions.
We will also be meeting with doing another surgery consultation but this time with the Anesthesiologist. The surgeon heard a "pause" in his heartbeat when we met with her. So, she wants a clearance from his Cardiologist and she wants us to meet with the Anesthesiologist before the day of his Muscle Biopsy surgery, which is scheduled for Wednesday morning.
The Muscle Biopsy is being done as a diagnostic test to determine if he has Mitochondrial Disease. If you're curious as to what Mitochondrial Disease is, you can click here and it will take you to the United Mitochondrial Disease Foundation's website where they describe what it is.
I'm not thrilled about doing the muscle biopsy because it is invasive. However, there are things we could do for Ryan, if it is Mitochondrial Disease that would help him. Therefore, we think it is best to test for it. We've had this test on the list for a while and have left it at the bottom of the stack because we didn't want to remove muscle from his leg if we could avoid it. It seems we're now at the point where it's the next logical step.
So... I'll let you know how the appointment goes on Monday. I'm sure I'll learn lots from the Dr. He's like a walking database of information and he's great at sharing it. I always feel like I learn so much from him. Hopefully, I can understand it well enough to share it with you when I get home. I'll keep you posted.
Today we're off to the ENT for a follow up, the Audiologist for a follow up on his hearing aids, and the therapists for a good workout.