Brian began vomiting at 2 weeks of life and was diagnosed with “GERD“. He vomited frequently and would have trouble breathing sometimes. He was always a “fragile” kid. At six months Brian vomited, became limp & unresponsive, and was then hospitalized. He looked so sick that the doctors ordered a CT. They said he would be in the ICU for a couple weeks however his stay lasted only a few days. The doctors never figured out what was wrong. A week after that he stopped eating solids and became unresponsive again. No one knew what was wrong with him. He otherwise developed normally. Even though his “pyruvate” was off, I thought it COULDN’T be mitochondrial because he wasn’t grossly sick like the kids I see at CHLA (I’m an OT at CHLA). He had an endoscopy at 10 months and was NPO which put him into acute respiratory distress that NO ONE could figure out. All his life until age five he was my “fragile kid,” when he would get sick, he would get “really sick”.
Brian seemed normal when healthy although an Occupational Therapist in my department did an assessment on him (Miller Assessment for preschoolers) and he did horribly which really scared me. At 5 years of age Brian had his first seizure and was rushed to the ER. They said “maybe febrile,” (he had been hospitalized for bloody emesis at age 4 and one other time before then, he would throw up until it was “coffee ground“ appearance). I asked my pediatrician if the seizure could be related to all his earlier episodes of his vomiting, lethargy, etc. and he replied “no, very unlikely”.
Six months later Brian had a major seizure and almost died. He ended up in the PICU at Huntington Memorial Hospital. I called CHLA and got a hold of a list of blood work (metabolic) to be drawn. The staff thought I was crazy, until his EEG came back saying “generalized slowing w/metabolic encephalopathy”. Shortly after that we were referred to Dr. Boles who diagnosed Brian with Mitochondrial Disease. Since it is maternally inherited, the diagnosis also answered a lot of questions about the problems my Mom, sisters and I have had. It took some “tinkering” but Brian is doing very well now at age 8 on his medications and supplements. Everyone who knows him says he used to always look pale, sickly and gaunt. Now, he looks so much better. He is getting OT, but is doing very well! -Brian’s Mom, Judy