My name is Donna and I am mother to 3 wonderful children: Frankie 8, Alex 7, and Lil Pat 4. My husband Pat and I had never heard anything about NS until Lil Pat was born. He has pulmonary stenosis, developmental delay, poor muscle tone, feeding issues at birth, enlarged ventricles in the brain, short stature, and for our Christmas present last year he started having seizures – daily. He has 4 – 10 seizures daily and he will not grow out of them. They are very hard to control with medicine. We are looking towards surgery hopefully in the spring to reduce the number of seizures a day.
At the time Lil Pat was born we had started to notice Alex’s severe speech problem and behavioral problems also began. His speech has since progressed so far that he barely qualifies for services through the school. He has some reading issues but like everything else he works very hard to overcome them. He and Lil Pat started growth hormones 2 weeks ago for short stature. At the time of Lil Pat’s diagnosis of NS, we were put in touch with Dr. Amy Roberts. After testing Lil Pat – he does have the PTPN11 gene. They tested myself and Alex also – we both have the PTPN11 gene. I am not affected very much by NS, in fact I argued with a geneticist about that very issue. Why does it seem so hard for some Dr’s to accept that they do not know everything and that once in a while we as parents and advocates for our children do know a little something and sometimes more than they do.
Moving on …. Frankie did not have any medical issues so therefore we could not get her tested. I was told when she reached “child bearing age.” The other wonderful Christmas present we received last year was 3 days after Lil Pat’s first seizure, Frankie had her first seizure. She has since developed some problems with school and learning. She also has frequent headaches since Kindergarten and often at night she gets leg pains. Growing pains as the pediatrician calls them. And now she is believed to have ADHD but the Dr doesn’t want to give her another label or put her on more drugs. He said to see the neurologist about it. However he has reluctantly said he would sign off on having her tested for NS now. Frankie’s seizures are under control with medicine and she will outgrow them in her teens. She has a very “high level of drama” as people refer to it. She’s just extremely moody and very head strong.
Going through my family with the geneticist, my mother and brother have a clinical diagnosis of NS. I also suspect other family members with NS.
We stay very busy with all of the medical aspects and try to squeeze in normal life activities to make it seem more normal. Given what the kids have been through and are currently going through, I have to say they are great and very strong. They are very close to each other which can be a good thing or a bad thing.
Donna – mom NS, Frankie 8 NS?, Alex 7 NS, Lil Pat 4 NS