Friday, October 16, 2009

Why?

My son was hospitalized for the third time in four years in the spring of 2008. In the middle of pre-season “captain’s workouts” in his second attempt to make the high school baseball team, he had to call it quits because he suddenly became unsteady. He made it home and off to the ER he went. They sent him home that night after increasing his Tegretol dosage, thinking it might be break-through movements. His Dad and I knew better and the next day with no improvement we brought him back and he was admitted. It turned out to be a brief stay, as the symptoms subsided. His neurologist identified the way my son was walking as “Parkinson’s gait” and added a low dosage of a Parkinson’s medication.

While he was hospitalized, they ran tests to see if they could get at any kind of root cause to my son’s physiological issues. One result was the discovery of a genetic mutation (a chromosome 16p deletion, which actually has a longer identifier) that was believed to correlate with incidences of autism. While this explains only a small percentage of autism cases, it gives hope for further advances in genetic evaluation for autism.

We were asked to take part in an ongoing study, and I received a letter yesterday that the results of the study were to be presented on October 28th at a Harvard Medical School building in Boston.

For more information, please visit www.autismconsortium.org. The site has links to many additional resources.

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