Story about Pyruvate Dehydrogenase Complex Deficiency .

My daughter Kayleigh Grace

May 28, 2017

By: Erin


Kayleigh Grace was born in November of 2016 and diagnosed with pyruvate dehydrogenase complex deficiency at a few days old, by some miracle her geneticist caught on to her rising lactic acid levels by blood test. On top of that she had severe brain loss, Ventriculomegaly, ACC, microcephaly, low muscle tone, low birth weight, and failure to thrive. Had a gtube placed at 2 weeks old due to a severely delayed gag reflex. Placed on the ketogenic diet soon after along with the mito cocktail. Plugged into the Biochemical Genetics Department at at Seattle Children's hospital at 2 months old, as well as the dietitian to help manage her care. Had a port placement at 5 months old to help with weekly blood draws, transfusions and medication.

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