We're headed to the geneticist's office this morning. We first met Dr. P when Daniel was just four weeks old. Every few years or so we revisit and see what's new in the world of genetics that might explain his unique challenges.
I am hoping that we can also get some feedback about growth hormone. Daniel's levels are very low, so we started supplementation last October. I stopped when his appetite got out of control and I wasn't seeing the increase in strength and stamina that the endocrinologist predicted. My knees were giving out, and I was wearing a brace everyday when I stopped the gh this summer. I don't want to withhold something that will be helpful to Daniel, and I respect Dr. P, so we're going to talk about it.
I plan to ask about alternative ways to have genetic testing done. I suspect a variant of Angelman's/Retts, and there are new tests available to explore that. The problem is that medicaid doesn't cover genetic testing for Daniel. It's partly his age, and also the state we live in. I'm hoping that we can get him tested through a research avenue.
I go back to work on Thursday for the new school year. Rich is getting a ride this morning from a guy we just met named Daniel. Call me superstitious, but his having the same name as my boy is good juju in my book! He's a friend of a friend and seems very dependable.
On the same note, a neighbor I've only waved to in passing offered to bring dinner on Thursday. Apparently Rich told her all about his diagnosis. I'm glad one of us is friendly in this house!
Random side note: Last night in the van Elton John's 'Daniel' was playing. I watched in the rearview mirror as my Daniel lit up. Huge, slightly embarrased smiles and lots of laughter and clapping. When we got home I wanted to recapture the moment on video, so I played the song again. Daniel put his head on the table and fussed at me. Guess he's not into performing on command. Can't say I blame him.
Off we go!
3 comments:
I hope you get some answers today at the doctor's -- I know how frustrating "not knowing" can be. I love the story of Daniel and Elton John -- it sounds like he's a smart boy!
We're back from the doc's, and he suspects a variant of Angelman's as well. He's referring us to Gainesville where the experts in that syndrome reside! And yes, Daniel has a lot going on inside that he just can't say with words. He does get his point across, though!! lol Thanks, Elizabeth!
I also hope answers are available, they always seem to help. I love your sidebar quote about all people, regardless of body, having a soul experience. Reminds me of deChardin who believed that we are all spiritual beings have a human experience...warmest regards for the days to come.
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