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.
I remember the first day that I really knew something was wrong with Catherine.
Prior to that, she was a difficult baby. She had difficulty hitting her milestones, was constantly constipated where she would be up all night screaming. No amount of miralax or pear juice seemed to cure it. It was truly hell on earth.
In November of 2015, when Catherine was 1.5 years old, she started with the ear infections. They were constant, and after only a few months, we were referred for tubes. Upon meeting with the ENT, I brought up her speech difficulties, as she was only saying four words, which all sounded the same. She also had a chronic runny nose that would not go away. He suggested Zyrtec and made an appointment for tubes.
Once Catherine had her tubes in, we thought her speech would take off, but the ear infections persisted and she seemed to get worse.
The day I realized there was something wrong with Catherine, she was pushing her baby doll in her baby stroller. Up and down the sidewalk, she would walk her baby. Occasionally, the stroller would get caught up on an uneven part of the sidewalk and Catherine would throw an all-out temper tantrum because she couldn’t get the stroller to move. I would calmly move the stroller for her, and she would be on her way again. But the fact that she did this, at the age of 2, for more than an hour, was alarming to me. Combined with the fact that she would throw these temper tantrums over something as simple as getting caught up in a part of uneven sidewalk alarmed me even more.
If you are on Social Media at all, then you have seen the multitudes of posts about PANS PANDAS Awareness Day today. Some posts have just the facts. Some posts are personal. NEPANS is made up of both professionals working and those who are parents to with children with PANS and so we try to cover both points of view. I myself am a Mom who wants to support families and help provide resources to professionals so little kids like my own are helped quickly and thoroughly. Below is a short view into what it was like when our son first had PANS symptoms. It is not the full story. But a glimpse into our life with PANS. After you are done, please share at least one of the resources on this website. Awareness really does spread one person at a time. It was one person that told me to look into PANDAS. You never know who you can help by sharing what you know. And last but not least, tomorrow might not officially be PANS Awareness Day but the sharing should not stop. Thank you for help. Thank you for reading.
Gabriella True, NEPANS Board President
My son was born 7 weeks premature. He was received both physical therapy (PT) and occupational therapy (OT) by the time he was four months old and gradually added Speech Therapy (ST) and Applied Behavioral Analysis (ABA). By the time he was 2 he was in therapy (ABA, OT, ST, PT) for 2 to 6 hours a day. Finally he was diagnosed with Autism and Intellectual Disability and told that traditional therapy would only do so much; we should not try so hard to get him better because it would not really change quality of life. And then doctors told me my other son had speech delays but not autism and would be a slow learner. Picking myself off the couch after a few months of simply collapsing, I got both kids IEPs and more therapy. But the one with Autism was so sickly looking; he had a bloated belly, he had fingernails falling off from fungal infections, he had huge shiners under his eyes, he was so weak he could barely walk and had continual diarrhea. The pediatrician, developmental pediatrician and neurologist all said it was part of the Autism and there was nothing to bother doing. So again I collapsed on the couch half the day and started a business the other half the day, anything to not focus on the grim prospect that my child was a lost cause. One day I finally realized that this was not good enough; I needed to find ways to improve quality of life for this child who was utterly non-responsive to me and no matter what the regular pediatrician said needed to be treated medically, Autism or not.
I took him to a well-respected, local DAN doctor (now a MAPS doctor) who ran more tests than I thought possible. Titers for some viruses came back so high that one was done again because he had never seen a titer that high. We slowly treated him, one dietary change at a time, one supplement at a time, 40 dives in the HBOT, nebulized glutathione, one prescription antifungal or anti viral at a time, etc. He went from a child who barely moved, who barely made a noise, who twitched and stimmed all day long curled up in a ball on the floor, who only ate five foods, who barely noticed us to a totally different child. He was now a child who played special needs soccer, who was interested in the world around him, who enjoyed doing things, who ate almost every food except broccoli and green beans, who was clearly happy to see his family. It was a long road with a lot of work. It did not happen over night; it was a slow progress. Yes, he was still severely impacted with autism and intellectual disability but he was happy, engaged and healthier. But, to me, it was clear quality of life had improved.
It was clear at my son’s 2-year appointment, that he was not meeting his milestones. He was non-verbal, did not parallel-play, did repetitive play and movements, was in his “own world” and had temper tantrums that were more than what the terrible two’s should be. I was referred to the “Birth to Three” services in CT. My son was given speech and occupational therapy while he attended regular preschool. But by his third birthday, it was clear it was not an appropriate placement and he entered the Special Education Pre-School program. His behavior had declined even further. He ignored his baby sister; was not affectionate to anyone. He would scream if I walked him on the “wrong” side of the road, refused to go into certain stores, or used the “wrong” cup.
Looking over his medical files from this period of his life, he did have strep throat as a toddler. He was on antibiotics for ten days but clearly that was not enough to heal him. That round of strep throat might have gone but our life was PANDAS had really just started. After that he was sick often with many rounds of strep throat along with ear infections, colds and viruses. I joked with the Pediatrician that they were going to name an exam room after him.
Looking back, he definitely had OCD. He was also extremely hyper and impulsive. Worrying about his safety, I built a fence around my backyard because it was hard to keep up with him, especially with a newborn in tow. I call it his college fence because of its cost. At this point he had no formal diagnosis. Although he had many autistic symptoms/behaviors, his special education teacher thought it was not autism. Soon he was diagnosed with Apraxia and the belief was that his tantrums, repetitive behaviors, low muscle tone and inability to play with others were due a severe speech delay. During this time, there was a marked increase in behavioral issues: his tantrums were escalating and getting him into bed was extremely difficult. We basically stopped having play dates because of his behavior; we were becoming more and more isolated every day.
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