Better late than never
May 19, 2017
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I was diagnosed at age 12 because of my short stature. I have a cardiac malformation but not usually related to Noonan syndrom. I'm small but at least the same height as my parents, 5 feet 6 inches ! The geneticist found right away which syndrom I had when I entered his office. The only blood test done came back positive for PTPN11.
I always had to work harder than my brother at school and in sport activities but I always succeeded. My parents pushed me to do my best and not to let go or use the easiest path. I have difficulties with fine motricity and with my judgment sometimes.
When I wanted to become a hockey goalie at age 12, my parents hesitated....they were scared that I would be bullied by other players because of my stature. The opposite happened, my team was protecting me on ice and in school. It made a big difference for me and I was more confident. I played for 7 years.
I'm studying to be a food inspector. I have a part time job in the fruits and vegetables section in a supermarket (I have to talk to costumers so it helps me with my difficulties at interacting with strangers). I have my own car and I'm very independent now.
It's always harder for me at school but I learned how to organize myself. I have a few friends, not a lot because I like to be alone sometimes. My brother is taller than me now but I'm ok with it.
I'm 20 years old and I have the mild form of the Noonan syndrom !
2 comments
Hey. When did you have problems with growth?
Commented 7 years ago Misha 11
Dear Misha. I was diagnosed too late to have help for my growth but I had problems since I was born ! Always below the 0 percentile. At 12, , my own growth hormone were already kicking so too late to have injections t help me gain a few inches... I was always the smallest, still is. But beside the height, no other problem. All of us have or will have problems with our growth, that's part of the syndrom. Do you have big problems with that ?
