Thursday, April 10, 2008

No diagnosis for Robert

I've been having trouble getting myself to post over the last few days because, last Thursday, we got back word from the Mass General genetics research lab about Robert.  The news was, as is so much with Robert, mixed.  They did not find anything relative to the gene that they've been studying; however, they're really intrigued by the fact that Robert is responding to biotin and are holding on to our blood samples as their research may expand.  They've only identified one gene in the biotin pathway, they said, and there may be others.  

Selfishly, I'd wanted a diagnosis.  It's been ten years of dealing with this mysterious illness, whatever you want to call it.  I'm tired of driving around blind.  I want to know what happened.  I want to know what can be done.  I want to know where we go from here.  I want a road map.  Of course, we all think life has a road map, but it doesn't.  

I've been patient, living without structure these ten years.  But life in America is getting so complicated.  Things are tied right now to money and to health insurance.  Money to stay in the house in the good neighborhood with the good schools and the resources to teach Robert.  And to stay in the big city with the highly trained and highly specialized physicians to treat Robert.  And the money to buy his special equipment.  And money to continue to be able to afford the health insurance that gives us access to much of that.  And that subsidizes all of the medications.

We've been weaning him off some medications, which I think is good not just for his general health and well-being, but to give our family some space (less structure??).  The embedded structure of our lives is Robert's medical care.  When I got away for the first time--to Bread Loaf in 2001--every time I looked at my watch, all I could think about was what medication or tube feeding was due at that time.  I would like us to be able to structure life around the things that we want to do or dream of, and not just our obligations and tasks.  

When I went to Vermont for my grandmother's funeral, I had that fantasy again of moving back there.  Of being able to live on less--less money, less things.  Of the cost of living being lower.  Of having more time.  

Robert sits on the pinnacle of our family, and a lot of our lives are structured around supporting the best life possible for a kid who has so little.  I don't resent it or him--I'd just like things to be different.  I want to pursue other goals, have a different job, have more time to write, attend to my family differently--but I feel locked into a series of choices that seem to provide the best possible life for Robert.  

We have, at least, gleaned the blessing of the biotin.  It really is having an effect.  Everyone sees it.  He's gone off Zoloft.  And Artane.  I'd like him to be off Sinemet, but the neurologists say that has to wait until they can examine him--April 29.  So he's hung up on the Sinemet dose, which makes him a little spastic for a few hours after he takes it.  Like someone half dressed.  

Anyway--this whole new group of neurologists is interested in the details of his illness.  This can be a good thing--at least for a while.  Neurologists are the most scholarly of physicians, I think.  But when they can't solve a puzzle, they tend to lose interest.  

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