Tuesday, October 16, 2012

The Allusive Diagnosis


A few months ago, I mentioned that a company called Gene DX was running a Comprehensive Epilepsy Panel on Ben. I was not hopeful that anything definite would come back, but the price was right and a little blood letting was not going to hurt Ben.

The results were interesting, yet, not significant, nor remarkable, definitely not a diagnosis. Basically our letter told us that Ben tested "positive for a mutation on the MECP2 gene which is on the X chromosome. Mutations in this gene result in Rett's Syndrome in females and neurodevelopmental problems and epilepsy in males. However, his mutation is in a location that has not been previously associated with disease. Therefore, significance is unclear."

When we meet with the neurologist, I will get a better idea if there are next steps to take - as in more tests. If they are more invasive or expensive, we will probably just drop it for now. Nothing will change about Ben's therapy and care. I have thought for a long time now that whatever Ben has is Ben's own special syndrome or disorder. It probably occurred sometime at conception or early development in the womb. When you think about how many things have to happen to make a human being perfect (in the typical sense), there are times when something does not go exactly to plan and a "mutation" occurs.

I will take my not-so-little anymore Ben, mutations and all. And I will not hold my breath waiting for a diagnosis.


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