I joined to group and wanted to introduce us. I am Colleen. I have 2 children, Kennedy(6)and Zach(3). Kennedy has been diagnosed with complex I deficiency mito. This diagnosis was just recently confirmed by repeating tests, but has been suspected for over a year now. Kennedy has always had a physical/cognitive disability. She was diagnosed with ataxic CP(unknown cause) at 2yrs old. She also had chorea and hypotonia. These left her very unsteady and always needed assistance. She was able to sit up, crawl and walk with a walker. Last spring she had a couple minor seizures and started on meds. Then in Sept she started full day of school. The seizures started getting worse. Then she started having GI issues. AT 3 she got a gtube for supplemental feedings cause she couldnt gain enough weight. She still ate orally all kinds of food(just couldnt get enough). Then when all this stuff started happening this fall, she also started vomitting a lot. First they thought it was due to her meds, then constipation, then finally found out that she all of a sudden had severe delayed stomache emptying problems. Then then switched her to a GJ tube and is on continuous feeds through her JTube. She was out of the hospital for 3 days and then suffered a bad seizure and was in status. The day after Christmas she was put into a pentobarb coma to stop the seizures. She finally awoke New years day. The left sided seizures stopped, but then she started having different activity on her right side. Her MRI's have shown significant damage to her right side, basal ganglia and cerebellum. The right sided activity has gotten better and doesnt show up like traditional seizures on EEG. They think the activity is movement disorder and partial seizures. Unfortunatly allthe damage has left her immobile, and lost all her speech. They still say they can not give us a prognosis, but do think all the sudden changes means the disorder has become progressive. She also has had vision changes. Due to her disability we can not know for sure how much she sees, but we do know that she has muscle paralysis in her eyes...so her vision is pretty much limitted to straight in front of her. As far as treatment, right now she is on meds to help her seizures and GI issues. For the mito stuff they increased her carnitor and coq10. They also added arginine and are trying to find a liquid Bcomplex.
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