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Metabolic Disorders...?

realisticdreamsrealisticdreams member
in Special Needs
So most of you are familiar with DD1s super long (ever growing..) list of dx.  We have been trying to figure out the cause of her bilateral leg pain/neuropathy, loss of sensation on the bottom of her foot, etc that started last Aug.  She got a wheelchair in March because her fatigue and lack of endurance/pain were just too much. We have been to doctor after doctor.  We were at neuromuscular clinic today in DC for a f/up and they did a muscle ultrasound.  It showed abnormal findings, not consistent with a  dystrophy but more consistent with a metabolic disorder.  She also has completely loss all of her reflexes head to toe.  

Is anyone here knowledgeable on this?  I know it's kind of a huge array of them, and I just don't even know what to think right now.  She did a lot of labs and most should be back in a week and we will go from there.

TIA.
DD1(4):VSD & PFO (Closed!), Prenatal stroke, Mild CP, Delayed pyloric opening/reflux, Brachycephaly & Plagiocephaly, Sacral lipoma, Tethered spinal cord, Compound heterozygous MTHFR, Neurogenic bladder, Urinary retention & dyssynergia, incomplete emptying, enlarged Bladder with Poor Muscle Tone, EDS-Type 3. Mito-Disorder has been mentioned

DD2(2.5): Late term premie due to PTL, low fluid & IUGR, Reflux, delayed visual maturation, compound heteroygous MTHFR, PFAPA, Bilateral kidney reflux, Transient hypogammaglobulinemia, EDS-Type 3


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Re: Metabolic Disorders...?

  • UnknownUnknown
    edited June 2014
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  • realisticdreamsrealisticdreams member
    No she doesn't have ASD and is cognitively advanced..and has been since she was about 2.  Are metabolic disorders similar to mito?? 
    DD1(4):VSD & PFO (Closed!), Prenatal stroke, Mild CP, Delayed pyloric opening/reflux, Brachycephaly & Plagiocephaly, Sacral lipoma, Tethered spinal cord, Compound heterozygous MTHFR, Neurogenic bladder, Urinary retention & dyssynergia, incomplete emptying, enlarged Bladder with Poor Muscle Tone, EDS-Type 3. Mito-Disorder has been mentioned

    DD2(2.5): Late term premie due to PTL, low fluid & IUGR, Reflux, delayed visual maturation, compound heteroygous MTHFR, PFAPA, Bilateral kidney reflux, Transient hypogammaglobulinemia, EDS-Type 3


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  • macchiattomacchiatto member
    edited June 2014
    One of my sons has seen a metabolic specialist over the past year for possible mitochondrial condition (he developed issues with fatigue, random bouts of vomiting on top of his delays, hypotonia, seizure Hx). His findings were basically inconclusive (mostly within the normal range) but I learned a little bit about it. Mito is the metabolic disorder I know the most about. I have two friends who have sons with mito. Here is a site with good info on it: https://www.umdf.org/site/c.8qKOJ0MvF7LUG/b.7929671/k.BDF0/Home.htm
    fraternal twin boys born january 2009
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