This morning, Will and I drove to Akron to finally see Dr. C, mito guru extraordinaire. This is the doctor who discovered the basilar invagination (brain stem compression) and sent us to Cincinnati in December of 2009. When we walked in, he totally remembered us. I was surprised given that he sees thousands of patients, but his statement was that it would be impossible for him to not remember us given that the brain stem compression was so severe and the initial Chiari was so huge.
That led him to the comment that said, "You do realize that when someone was hanged, the odontoid (the bony structure removed this past November to finally release the pressure from the brain stem) is pushed into the brain stem and that is what kills the person." Hmmm....nope. I didn't know that. He went on to say that he had no idea how Will had been walking and talking prior to this last surgery given the significance of the compression and that a fender bender could have killed him. He was relieved that the surgery was so successful and totally sang the other Dr. C's praises.
Well, when we Colemans do something, we don't do it halfway.
Which brought us to the whole mito question...Essentially, the mito testing done in Atlanta covers only a couple of possible genetic flaws that are responsible for Mitochondrial Myopathy. There is a new test coming out in the next couple of months that will test for up to 400 possible locations where the genetic error may occur. So while Dr. S in Atlanta was unable to locate the exact location of the defect, Dr. C in Akron is convinced that we may find it with this new test.
However, his belief is that the majority of the autonomic instability is a direct result of the brain stem injury. Which means that Will's brain stem was too compressed for too long and as a result, it is not going to recover. The actual management of Will doesn't change with this possible shift in primary diagnosis. The symptoms are handled identically. The significance lies in prognosis. With POTS or Mito, there is a significant chance of improvement in Will's 20's. If indeed the majority of the symptoms are a direct result of brain stem compression, then essentially the prognosis remains more murky. This is not going to go away.
The rapid progression is the remaining question mark as to which is primary...brain stem or mito. This is the reason for continuing to pursue the genetic component of the mito. That finding would also have significance for future family members (grandchildren).
So what are we doing? When I return home, the first order of business is to apply for a Medicaid Waiver so Will can enter rehab. By slowly improving his muscle tone and endurance, the body can utilize the larger muscles to assist the neuro-muscular system that is not functioning properly right now. But that is a painfully slow process and our insurance only covers 20 physical therapy visits a year. The Medicaid Waiver would allow him unlimited therapy services. Dr. C was adament that the rehab needed to occur in a medical facility so that rapid assistance would be available. I really have no idea how we are gonna manage this one, but this is essentially the only hope we currently have for improvement. Even so, the best we can expect is maybe a 20% improvement, but right now, I will happily do whatever is required for that 20%.
He did remind me that the heat of summer is going to make hydration significantly more challenging for William and that his need for infusions will likely increase. Yep, I am on that already...especially with the Make-A-Wish trip in the Keys looming.
I realize that this is a quick information dump, but I am literally falling asleep at the computer. The weather for our trip home is still iffy, but as of tonight, Charlie and Matt think it will clear enough that we can fly later on Friday. Today's drive and activity was obviously a bit much for William, so tomorrow is another round of IV fluids and a quiet, restful day. The storms here tonight have been severe, so quiet sounds pretty lovely right now.