Everyone keeps agreeing that he looks great. People tell me that regularly, especially people who haven't seen him for a while. I'm never sure if they're just trying to reassure me, keep my spirits up, or whether they really believe it, or just want very badly to believe it. At any rate, I do believe the neurologist when he tells me this.
As all of what we can now consider the first round of tests in this latest diagnostic go-round have come back negative or normal (this is also a theme for us as a family: something is clearly wrong here, but the science says, 'normal'), we are now in the 'hmmmm' stage. Dr. Naidu showed us Robert's November MRI on the computer in the examination room again. While some poet observer part of me finds it endlessly fascinating to think about the technology behind seeing an elevator up and elevator down image of the inside of my kid's head, the id in me is simply freaking out in five different directions: it's the inside of his head! Look, those are his eyeballs!! Sinus cavities!
Other parts of my psyche are wondering why I have never expended any energy trying to learn the different parts of the brain. Add to the check list of new advanced degrees I need: organic chemistry, applied genetics, basic neurology. Putamen? Got me. Dr. Naidu, of course, generous soul that she is, explains this. I can't repeat it because I'm still not putting all of this together yet: willful ignorance?
I don't think it's denial. There's only so much complexity I can handle altogether. There's the complex schedule of family life in which I really need a 28 hour day, minimum. There's the very complex medication schedule, which is rapidly being simplified as we take him off stuff. There's dealing with 7 or 8 different people at the school. There's the adaptive equipment, among which is my pet peeve, the Rifton gait trainer I did not want, but which the physical therapist talked me into. Physical therapists think the Rifton Pacer is the greatest thing they've ever seen because the complexity of a walker with up to 8 separate attachment points gives them oh so much flexibility. And each of the 8 attachment points (OK, we only use 6 of the 8 possible) has 3-4 different adjustment points. Can you see that this is a living nightmare? Every time I've tried to get him in this thing I run into a mental brick wall. Whatever and however it's been set last time does not work this time. If I touch one adjustment point, thinking I can do something quickly, I find myself absorbed in the depths of the mechanism for about 45 minutes.
I guess I'd rather be creating complexity or experiencing complexity through some literary thing, some encounter of my own choosing. I do not wish to face complexity in each aspect of my life as I move through my day.
OK--back to the 'hmmmm'. The putamen, the basal ganglia, and the cerebellum all look as though this should fall into the category of genetic basal ganglia disease. But the tests are not cooperating. (I am relieved to hear Dr. Naidu say the cerebrum looks fine.) She reviews the genetics history of the family we put together for Children's Hospital's genetics department. These people were only interested in him because they thought they had come up with one possible test that had been overlooked and that might solve the mystery. When that one test came back negative, they told us they had nothing more to add and no interest in following Robert.
May I interject that the problem with Children's Hospital in DC is that it's a hospital for typical children who are sick, not a hospital for children with disabilities. They like getting kids they can fix. They have no interest in kids they can't fix. This is why we are now at Johns Hopkins, where people at this specialty hospital for kids with profound disabilities are actually concerned with optimizing the life of such kids. Did I mention that the reason we finally left Children's altogether was that the orthopedic surgeon told us Robert's hip surgery would require a 6-8 week period in a cast, immobilized. And that most parents put their child in a rehabilitation hospital for that period (where he apparently would lie on a bed all day). When I told her that I didn't think that would be good for Robert, that he couldn't handle that emotionally, she stared at me blankly, unable to comprehend that a disabled, non-verbal child might have psychological needs or an emotional life (or thoughts or feelings, I presume). I'd run into a lot of different doctors, but this was the first one who couldn't seem to understand that disabled children were people and not pets.
But back to our appointment, which I seem assiduously trying to avoid talking about. They're trying to figure out which direction to head in with testing. More genes have been identified that are linked with Parkinson's itself and Parkinson's-like syndromes. Should we go that way? Which genes should we look for? Improvement on biotin is an important finding: she should have a conversation with Dr. Hyland, who's done all the ground-breaking research on pediatric neurotransmitter deficiencies. Would he have any ideas? Should we test for Huntington's disease, which profile Robert fits pretty closely--it can be inherited, but in rare cases can develop spontaneously from a genetic oddity. This last is not exactly what I want to hear because Huntington's is progressive and fatal.
She's very intrigued by the fact that Edith and I share an apparently benign inherited genetic abnormality. I was the first woman in my family, ever, to have amniocentesis (and this includes my cousins and aunts). I was pregnant with Edith and we wanted to know if there would be any surprises. Edith had a 'variant arm' coming out of the inactive material in the center of one of her chromosome 20 pair. It turned out it was inherited from me, and undoubtedly I inherited it from one of my parents. We had never thought about this in the context of Robert's problems (we don't know if he inherited my defective copy of chromosome 20 or not) because the upshoot of all with Edith was that if I had it and had developed typically, it was almost certainly benign. So we moved on.
But Dr. Naidu points out that these variant bits of material on chromosomes can 'break off' in recombination at conception and become 'stuck' to some other part of the chromosome or another chromosome, affecting how that chromosome's genetic data is enacted. This thought is almost beyond me right now. The rational part of me knows that I should not feel staggering guilt or responsibility because A) we don't know that this even happened without a full DNA workup on Robert, and B) I can't be to blame for something I couldn't anticipate or prevent. But feel responsible, I do.