Wednesday, May 20, 2009

I Will NOT Take Chemistry

I resolved in high school that I would not take chemistry. I renewed that resolution in college and now I’m sorry. Well, not too sorry but a little. If I had known during those years that I was a carrier for fragile X syndrome and that someday I would have two sons with fragile X I would have been more highly motivated.

As a member of an advisory board, I spent this past weekend at a retreat at the University of Washington Friday Harbor Laboratories with scientists and geneticists from across the country for one of the three national Fragile X Research Centers, the University of Washington in collaboration with UC Davis M.I.N.D. Institute and Rush Medical Center in Chicago. I understood little of the scientific PowerPoint presentations made in the morning meetings. They revived a weak determination to read a short, very basic book on chemistry. My notes were mostly: look up hemi-methylated, crossover during PCR, isoforms, knock out mouse and more. The afternoon lectures were on newborn screening for fragile X, symptoms of FXTAS (Fragile X-Associated Tremor/Ataxia Syndrome—a disorder that can affect carriers), minocycline as a promising drug for patients with Fragile X Syndrome. I could understand a lot more in the afternoon. Tiina Urv (an Estonian name) from the National Institute of Health was there to make sure that money was being used as written in the grant proposal.

I realize I am not unique when I say that I didn’t know the route my life would take as I made plans during my teenage years. Many of those plans have come true (no chemistry classes for me amongst other more significant goals like marriage and children) but I continue to be amazed at what I have learned and experienced in having two sons with fragile X.

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