My son, my daughter and I all have Noonan Syndrome. We have what is known as the PTPN11 gene. Our cardiologist diagnosed Kylie with Noonan Syndrome and sent us to the genetic dept. to confirm it. After that, they tested my husband, our son and myself. We thought after getting that diagnosis we had an answer to all the problems we saw occurring but this was not the case. I brought my concerns up with our local pediatrician at the time; he kept blowing us our concerns off because of having the Noonan Syndrome diagnosis and an autism diagnosis. The children are on opposite ends of the autism spectrum. We were referred to neurology after Kylie's recent strep infection and behaviors.
Neurology ordered a 24 hr Video EEG in the hospital, which produced an abnormal EEG. The neurologist told us anyone can have these electrical discharges but that doesn't mean the person will actually have seizure and then they dismissed us. We proceeded to a 2nd neurologist who put my daughter on a tic medicine, which made her behavior worse. She should never have been placed on that medicine because it can lower blood pressure and she has a heart defect. Neither neurologist provided any effective help.
On September 30, 2015, our 4-year-old son woke up a completely different person. He was speaking differently; he had uncontrollable anger and rage. All of his clothes felt itchy, he said. Then he started counting numbers, repetitively; it was non-stop number counting for hours on end. Then he started chewing the inside of his lips raw. We thought it was just an off day, but we knew something was terribly wrong the next day. He woke up the next day with all of the same behaviors as the day before, but this time something else happened. We were eating dinner at the dinner table when all of a sudden, our 4-year-old looked at us and said "Mommy, I just peed my pants on the chair. I didn't even know I had to pee." I knew at that moment something was so terribly wrong with our son, as he had NEVER had an accident since he was 2.5 years old. He wet the bed twice that night, and then woke up telling us that his brain was saying awful things to him and making him feel angry. He also developed a severe separation anxiety and anxiety about everything in general.
Before September 30th, our son was your average 4-year-old, kind, sweet, and outgoing. He loved making friends and going to school. His teachers once told us at parent teacher conferences that he was at the top of his class, morally and academically. He was vibrant and smart and so enjoyable to be around.
I immediately called his pediatrician and she got us right in. She took notes of the behaviors, did some of her own tests, then she called two other doctors in. Each doctor took turns examining our son. After they talked outside of the room, they came in and said we would be immediately admitted to a children's hospital for observation. Something was wrong with his brain, they said. It could be a stroke or a tumor, and he needed to be evaluated immediately by a neurologist.
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