Wednesday, May 3, 2017

Up with Matty

Mom, Dad and I went to NIH to talk to a class of future genetics counselors last night. It went pretty well. Mom was worried I'd be too gloomy, I think, because what I wanted to tel them was that the FA diagnosis did not help me at all.

Here is what I said (more or less. I didn't read it so it's not exact):

Mom and Don were talking about the advances and how you no longer have to make diagnoses wholly on symptoms. I kind of have a different view. I learned 20 years ago that I have FA, and despite the hard work by doctors since then, if anything the diagnosis hasn't helped me. I still have a degenerative disease that continues to degenerate. I know at least vaguely what the future of disease is. I can no longer say, “Maybe it won't get worse,” because FA does get worse.
One doctor — not from NIH — told me shortly after the diagnosis that they’d have a treatment within 5 years. Instead, I am trying to figure out how long I can work, how unfair it is to make my sister care for me when my parents are gone. 
But then again maybe they will cure it tomorrow.
I also told them they need to make sure the patients have a support network because no matter how strong and how hard it is to accept help, no one can do this alone.

I could have been much more gloomy.

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