My 5-year-old son was seen by our ped neuro this morning because of low muscle tone and possible progressive weakness. The neuro said he felt his strength was good this morning, but agreed with the low tone and recommended workup. He has ordered a chromosome study including fragile X (DS is also Dx'd with high-functioning autism and dev. delays), CPK, aldolase, carnitine level and a hemogram. He also ordered an EEG due to DS's poor sleep and frequent nightmares.
We are also working with a naturopathic MD who has ordered a comprehensive stool analysis, likely followed by a heavy metal screen and then other tests depending on the results of those, and has recommended a few supplements to start in the meantime.
Is there anything else I should be requesting? I don't always feel like I am thinking clearly when we are in the middle of this kind of thing. The naturopath suspects metabolic involvement. The neuro said he "didn't think" there was anything neuromuscular going on but thought we should run the tests to be sure ... the OT said his hands were like "mush" when she looked at them last week, and he is getting less willing over time to even try to hold his pencils properly, (ends up in tears if pressed to try), will only use his silverware for a very short time before resorting to his hands at mealtimes, and his 2-year-old brother is easily stronger than him, so I know SOMETHING is going on, and am really hoping for some definitive answers.
Mamma to three boys : We love :::