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Metabolic Disorders: Anyone else?

Princess_LilyPrincess_Lily member
in Special Needs
Is anyone else (or your child) dealing with a metabolic disorder?

If so, do you guys do labs before meeting with the geneticist for your annual?

Do you find that the disorder may be affecting other areas of your/your child's life developmentally?

Do you find yourself asking more questions with the more knowledge you gain about the disorder?


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Re: Metabolic Disorders: Anyone else?

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    macchiattomacchiatto member
    X's developmental pediatrician referred us to a metabolic specialist this summer. We've seen him for testing and have a third appt scheduled for this summer but haven't gotten clear answers at this point. He does have developmental delays but it's hard to know if those are related to a metabolic (mitochondrial) condition or not. The specialist had ordered different lab work before each appt and we also have a standing order for lab work to be done the next time DS has an episode of unexplained vomiting.
    But yeah, since this process started we have ended up with more questions than answers.
    fraternal twin boys born january 2009
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    Princess_LilyPrincess_Lily member
    edited March 2014
    Princess_Lily said:

    Is anyone else (or your child) dealing with a metabolic disorder?
    Yes, 3MCC.

    If so, do you guys do labs before meeting with the geneticist for your annual?
    Blood & urine are done prior to annual.

    Do you find that the disorder may be affecting other areas of your/your child's life developmentally?
    While we only thought that his disorder can cause a metabolic crisis during sickness or severe dehydration, apparently one side effect is hypotonia (muscle weakness). The hypotonia causes msucle weakness, a speech delay, drooling clumsiness, and SPD. Which sometimes doesn't show up until early childhood. Also irritability is noted if they don't eat or drink well during intense activity.

    Do you find yourself asking more questions with the more knowledge you gain about the disorder? yes!!!


    ~~~~~~~

    Mac, do you know if you need emergency treatment orders in place for the disorder if you LO gets sick (vomiting)?

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    macchiattomacchiatto member
    Not at this point; just lab work. With DS, since the results so far have been inconclusive, the lab work while vomiting would be more to help pinpoint what might be going on. His specialist said the evidence for some metabolic conditions only show up during times like that.
    fraternal twin boys born january 2009
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    Princess_LilyPrincess_Lily member
    Yeah, I need to speak with DS's geneticist about diet and correct vitamin supplements since his behavior can fluctuate if he doesn't eat/drink as well, and he's such a finicky eater as it is; In addition there is some attention difficulties seperate from 3MCC that we need to look into.



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