Wednesday, August 15, 2012

Back to the drawing board, sort of

Today was the much-awaited appointment with Dr. Cohen at Akron Children's. I had been looking forward while simultaneously dreading this appointment. See, I had been told by several people that Dr. Cohen has a horrid bedside manner. However, if he does, I didn't see it. The appointment started like most appointments with a new doctor do: going over Alvin's medical history. The more we talked about, the more the doctor's eye lit up. Apparently, most of what's going on with Alvin has NOTHING to do with NF.

So what does it have to do with? Well, that's the million dollar question right there. It could be several things. It could be something called neurofibromatosis-noonan phenotype. That's when a person has characteristics of both NF and Noonan's. However, doc said there were too many things going on to just be NFNS, but he wasn't ruling it out just yet. Part of Alvin's issues could be from a tethered spine. Might be mitochondrial. Might be an not-discovered-as-of-yet gene mutation/deletion. Could be neurofibromatosis type I microdeletion syndrome. Could be a lot of things.

Which means, a lot of tests in the future. Today blood was drawn for the standard CBC, chem panel, lead, and something else. Urine was collected for an amino acid panel. A lumbar MRI was ordered to check for tumors on the spine and for tethered spine. Once those are over and we get the results, we'll go from there. He doesn't want to test for mito right now, as it's a highly invasive painful test.

The one thing the doc said he really really wants to have happen in the next year is to have Alvin's entire genome profiled. That's a $5k test NOT covered by insurance. Eep! Doc is going to apply for some grants, etc, but some, if not all, of that costs will have to come from us. He really and truly thinks that there's something hinky going on with Alvin and that's our best bet to figuring it out. So, that's going to be interesting.  I'm kind of hoping that we figure it out prior, but I'm more than willing to try to get the funds to get the genome sequencing done. 'Cause really, once that's done, we'll know exactly what's going on in each and every part of his DNA.

So to recap, MRI in a few weeks. Blood/Urine tests done today. Results on both will be in by mid-September. If those are negative, we go from there.

Also, he's sending Alvin to be examined by a neuro-psychologist. No clue when that's going to happen. Still waiting on them to call me back to schedule an appointment.