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Story about Noonan Syndrome .

Better late than never

May 19, 2017


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 !

 

 

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2 comments
1

<p>Hey. When did you have problems with growth?</p>

Commented 7 years ago Misha 11
0

<p>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...&#13; I was always the smallest, still is. But beside the height, no other problem.&#13; All of us have or will have problems with our growth, that's part of the syndrom.&#13; Do you have big problems with that ?</p>

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