Remember all the tests that Ryan's Metabolic Geneticist had ordered at the end of September? Almost all the tests had come back several weeks ago and they had all been negative. I had followed up on them again a couple of weeks ago and they still hadn't heard back on the last two tests. Honestly, I just didn't think we were going to find anything.
Then on Tuesday, an unexpected call came. The nurse said, "Mrs Mann, do you have a few minutes?" A test came back positive. I'm a little shocked. Ryan tested positive as a "carrier for Niemann-Pick C-1. Heterozygote. One copy not 2. A carrier, not diagnosed with the disease." She then read to me, "Biochemical testing is recommended to confirm disease diagnosis."
A few days and several calls later, we have the next steps planned out and at least a rough understanding of what will take place over the next few weeks.
Ryan will have "biochemical testing" done on Monday, which starts with a skin biopsy. It's my understanding that it will take any where from 6-12 weeks to get the results back.
I'd like to tell you all about the disease and educate you about it, but instead I think I'll just give you some good links. I'm sure you can understand.
National Niemann-Pick Disease Foundation
National Institute of Neurological Disorders and Stroke
This one is my least favorite, but it is very informative.
In addition to the skin biopsy, Dr. Gibson is still scheduling a muscle biopsy. We are waiting to hear back from the surgeons for a surgery consult. It will be done as an outpatient surgery. The muscle biopsy will not confirm diagnosis of the Niemann Pick disease. Thus, he is still looking for other diseases.
In looking at the few profiles I've been able to find online of children with NPC, I haven't found any one yet that was diagnosed with NPC who wasn't walking and talking first before they started losing their milestones. So, I guess that's something I'll have to ask the Doctor about. Is it just that Moms with kids like Ryan don't blog about it? I haven't found them yet. Or, is it, well, that they just don't survive the disease long? I have so many questions. But, as one of our Doctors said, we should wait to confirm the disease. Then he said, "However, it's not typical for a carrier to be symptomatic for the disease like Ryan is."
It's odd to think we may actually have a name for Ryan's issues. It's obviously not the ideal diagnosis, but I am thankful for great doctors.