She had a pretty normal life up until babies typically start reaching their milestones around 2-3 months old. After getting an MRI done, we were devastated to find out that she had thinning of the corpus callosum, dilated ventricles, and a white matter volume loss. The neurologist also referred us to a geneticist and told us to expect her to start having seizures. Exactly a month after her MRI, ou
r worst nightmare came true and she had her first seizure. She was admitted into the hospital and continued to have more seizures. She was discharged with two medications that seemed to control them. 3 days before our wedding she had 3 more seizures and was readmitted to the hospital for a brief stay. She had a good 2 week streak with no activity and suddenly they returned and became much more frequent. After having 11 seizures in a 5 day period, she was readmitted to the hospital. She was hooked up to a video EEG machine for a third time which detected her brain was constantly seizing. While trying to figure out why all of these seizures were happening, her bloodwork came back with elevated acid levels. Her neurologist suggest that we be transported to CHoP because her bloodwork indicated a metabolic disorder. After a long haul to Philadelphia and being seen by doctors all night and day, they are almost positive she has something called Pyruvate Dehydrogenase Deficiency. It is a rare mitochondrial disorder that has no cure. We are currently starting treatment for her in the form of a special diet, medications, supplements, and vitamins. Depending on the severity of symptoms, prognosis for this disease varies. Angelina has severe symptoms such as developmentally delayed, weak muscle tone (hypotonia), microcephaly, lactic acidosis, and other cognitive and motor skill disabilities. Many people with PDH deficiency don't survive past childhood. We are hoping and PRAYING to God for a miracle and to keep her alive and make her healthy.
