Sep 20 2013
Jake has microcephaly, cerebral palsy, myoclonic , complex partial and gelastic epilepsy, mental retardation, and is on the Autism spectrum . He also has a variant/mutation on the gene for Rett Syndrome.
At 12 months he still could not sit up by himself or crawl. I had asked our previous doctor at every visit if Jake’s development seemed abnormal. He told me what I’m sure so many other parents have heard…”All babies develop at different rates”. I knew that was true, but I KNEW that something was wrong. He also never said anything to me about Jake’s head circumference steadily dropping down the chart.
We switched doctors. We were told that Jake’s head circumference was a little small and he was delayed in his development. Jake was sent for a CAT scan. It showed enlarged ventricles. We were then sent to a neurologist, where we were told he had cerebral palsy, microcephaly, and pending an EEG, seizures. He was given an EEG and MRI the next day We never went home from the doctors office. We were sent straight to the hospital where we stayed for 3 days. The EEG showed generalized myoclonic seizures and background slowing. The MRI showed evidence of mesial temporal sclerosis and microcephaly. The diagnosis of mts was later changed to PVL.