Monday, March 18, 2013

Mitochondrial Disease

My daughter is diagnosed with Complex I mitochondrial disease. She was born healthy and full term with out any suspected problems. After a severe bout of pneumonia at 16 months she began to show signs that something was wrong.

Audrey has chronic fatigue sleeping up to 23 hours a day. She has gastroparesis which began as dysphagia and now has progressed to the point she is TPN dependent with very little j-tube feeds. She has hypoglycemia and temperature instability. Audrey intermittently requires oxygen during sleep and play. She has mild developmental delays and is suspected of having auditory processing disorder though she is too young to diagnosis this.

Prior to her diagnosis, Audrey underwent an MRI, multiple blood test, urine organic acids, sleep studies and seizure evaluation. Results led to a suspected mitochondrial deficiency. She underwent a muscle biopsy which confirmed a complex I deficiency. She is waiting to undergo DNA testing at this time.

Audrey takes over 18 doses of medications each day. She is on the standard mito cocktail of carnitine, Co Q 10 and riboflavin, plus many others. She is also on TPN 24 hours a day and some feeding through her j-tube.


Contributed by MOM Elsa Yedinak.  Check out Audrey's blog for more.

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