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.
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