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.
Throughout the years we saw genetics, orthopedics, rheumatology, neurology, developmental pediatrician, psychologist. Both kids had numerous MRI's, CT scans, blood work. We have had a team of different therapists in and out of our home since they were babies because of the autism and the Noonan Syndrome.
We finally found a local Osteopath who treats special needs children for a variety of diagnoses. He focuses on the whole person versus focusing on one issue and one function of the body. When we met with him we gave him a history of both children. He knew a bit about our genetic syndrome. After reviewing our family history and the symptoms of both children, we had added another diagnosis, PANS/PANDAS. Since autoimmune runs in our family and coupled with Noonan Syndrome, it didn't surprise me when they were diagnosed with PANS/PANDAS. It upset me that all the other specialists we saw just kept pushing us off because my kids are "medically complex". We decided to do antibiotics because Ky had a recent strep throat infection and our son Jacob had perianal strep. We signed up for services in our state called wraparound. These services along with being on the antibiotics for 4 1/2 years helped tremendously. We also added a new antibiotic to Ky’s regimine because he has Bartonella, a tick born infection, as well. Both children have been in remission for a year now and are on no medications at all. There is hope. Don’t stop looking for answers if your doctor doesn’t address your concerns. Medically complex children are complicated but keep looking for a doctor who is not intimidated by that and will take the time to delve into treating your child.
PANS associated with Epstein–Barr infection in child with Noonan syndrome
(G.P.Tisi, M.Marzolini, G.Biffi - European Psychiatry - 2017)
More PANS/PANDAS Studies
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