Tommy is an 18 year old autistic man who also has developmental delays, Crohn’s disease and more recently, an occasional seizure. Although Tommy is 18, he cannot be left alone, so I can only work part time. He doesn’t talk. I don’t know what his other interests might be because he can’t tell me. Sometimes we go swimming at the gym. I know he likes the water. The there are days when we have to go into Marin or San Francisco for doctor appointments. It’s seems like it is always something… But it’s hard to know what those “somethings” are.
He doesn’t communicate pain or discomfort. I have to notice subtle differences in how he stands or sits, or if he’s holding his stomach or making a face. Recently he had a strange bump on his shoulder so I thought I’d better have it looked at. Turns out he had a dislocated shoulder and it looked like it was there for a while. I feel so helpless and sick when I think of the pain he must have been in and unable to communicate it.
But I really want to know what exactly he needs, medically. It’s all been a guessing game. And now there is this testing called exome sequencing that Tommy needs to get an exact diagnosis, so we can find the best treatment.
I hope we can find a more effective medication for Tommy. He is not able to tell me how a medication makes him feel. If it’s working or not. If the increases make it better – or worse. Is what he’s taking even necessary? I’m hoping with this testing, we will know what he needs, or more importantly what he doesn’t need. I don’t expect him to be “cured” or start talking. But I hope he’ll be more comfortable and have a better quality of life.
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