Early in twentieth century the Balkan Peninsula was subdivided into a number of countries; and so was born the term Balkanized. The term has come to be used when things are piecemealed into small and often competing units.
I think some day when the genome gets read for the price of good meal, your doctor may say I don’t have the time to talk to you about all your missense, nonsense, alterations, inversions, deletions and copy variants. As one scientist said we will soon have cheap scan with a million dollar consult. But you will say that I have an autism spectrum disorder (fill in a blank) and the doc will say: “yes, but the last 25 patients walking out of here had that label too, but all had a different variant and we have to treat each one differently”. We may be on our way to being Balkanized, in a diagnostic way, if you will.
This was a week of frustrating research and writers block. But something beautiful did happen, Haley played hooky from school and I got to have her for the whole day. She fell asleep about mid afternoon before mom came to get her and I stole some time holding her while she napped. I kept staring at this girl and wishing I could see a cure for CDK5 mutation. I realized that this was the next part of the journey and a frustrating one, not only for me, but all of us. Haley was four at the time, relatively healthy, strong and thriving, at least, since June when we got control of the tonic clonic seizures. During this time I cruised the web looking at research, even took in lecture at the College of Nanoscale Science and Engineering of the University at Albany. It was a fascinating lecture on bio-engineering. I did it because I hate being helpless. I hold this beautiful child and wish I had a fortune to give away to fund a cure. But reality gets in the way, that’s not the way it happens. If that were so, Bill and Melinda Gates would have bought a cure for something. As it is, they seem to be trying to put their money to places where it makes differences now.
What you find when you really dig into the research, is that an enormous amount of exciting things are happening, but the complexity is daunting. It is happening because of the enormous impact of neurodegenerative disorders The University of Pittsburgh, Neurology Department puts it this way:
It is estimated that approximately one in four Americans will suffer from a neurodegenerative disease, and virtually all Americans will have a family member with one of these conditions. Unfortunately, the underlying mechanisms of neurodegeneration—and how they lead to disease—are not well understood. The complexity of these diseases makes it impossible for any single scientist to find the cause or cure. Instead, it will require an integrated, collaborative, interdisciplinary approach—involving interactive groups of scientists and clinicians. http://www.neurology.upmc.edu/pind/
Those of us who deal with these beautiful children, learn that they are ready willing and able to move ahead in their lives if we can just remove the roadblocks. We also know that they are our equal in their zest for life. And that zest we share is a most beautiful gift.
Grandfather to Two Rare Disorder Granddaughters
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