metabolic/low tone workup - Mothering Forums

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#1 of 4 Old 02-04-2010, 09:53 PM - Thread Starter
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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.

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#2 of 4 Old 02-05-2010, 01:27 AM
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Hugs to you Mama--we are going thru similar things w/ds1--possibly Aspergers, low muscle tone, delayed fine motor skills and hands very weak, etc, etc. I am picking up an order from our ped tomorrow for some tests, but I don't know what they are yet. Our ped spoke w/the geneticist yesterday or today about a possible metabolic or mitochondrial problem and testing, so we'll see.

Hopefully, SBGrace will see your post. She has helped us so much since I logged back on here last week!


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#3 of 4 Old 02-05-2010, 03:47 AM
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I'm glad he's running carnitine--in addition to a carnitine level a full carnitine profile would be a good idea. If he comes up low (he very well might) a metabolics doctor will want to know if he's got elevations in certain patterns indicating various specific metabolic disorders. I'd run coq10 levels (can cause the progressive muscle stuff) and perhaps a metabolic urine screen as well. This is my post on mitochondrial stuff. Sounds like he's got markers in that area? The site has a page on testing. The first tier tests are what two different metabolic doctors initially did on my son when metabolics was suspected. Those are initial mito tests but they will give clues to other fatty acid or metabolic conditions as well.

If you're doing stool anyway run a metametrix urine as well. I love their stool test (it's really good...the use DNA to find bugs that stool cultures might not catch in a particular on their website). The urine is great because it does a lot of metabolic looks. It's not a formal metabolic lab. However, it picked up all my son's issues that formal testing had identified and suggested the same treatments (it will pick up fatty acid/mitochondrial indicators for example).

Rachelle, mommy to 8 year old boys! 

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#4 of 4 Old 02-05-2010, 02:53 PM - Thread Starter
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Thank you Mrsfru and sbgrace! Mrsfru - I hope you are able to get some answers from your testing as well. Sbgrace - I will ask about the other tests. The carnitine was ordered for both free and something else - I don't have the scripts in front of me anymore. We had the blood draw this morning ... oh, my ... hope we don't have to do that again any time soon ... not a pretty thing for my poor little guy. Didn't help that big brother had to get stuck twice for his seizure med levels and liver checks - first vein didn't cooperate ... or the poor little guy a couple of chairs down that had do get some suctioning with a VERY loud machine and of course loud screaming from him ... I thought DS was going to crawl into the wall to get away from all that noise, but I was holding his brother and couldn't get to him right then ... glad it is done ... hope it gets us enough answers to avoid more sticks at least in the near future ...

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