As a little girl, Sandra was always the shortest in her class and looked a lot younger than her age. Due to her small stature, Sandra not only had difficulty living a normal life, like reaching the blackboard at school, but she was also faced with bullying. As an adult, Sandra found that these problems continued for her as she experienced discrimination in the workplace as well as in her everyday life. Unfortunately, Sandra first got her diagnosis of Noonan syndrome together with her sons and she never received any treatment.
Hear from Sandra and her two sons, Tyler 10 and Julien 5 talk about their experience of becoming diagnosed with Noonan syndrome.
Noonan syndrome affects multiple parts of the body and its signs and symptoms can vary greatly / differ greatly among individuals. People with Noonan syndrome typically have certain distinct facial features, heart defects and short stature. It’s present from birth but may not be diagnosed until later in life as the symptoms become more pronounced with age. Early diagnosis is key to ensure that complications, especially those affecting the heart, can be monitored and treated.
Both of her sons were normal in size at birth, but Sandra quickly noticed they were growing at a slower rate than they should. Sandra didn’t want them to go through the same struggles as she did, so she consulted her doctor who shared her concerns. A simple blood test revealed the diagnosis; that all of them were living with Noonan syndrome.
Because Sandra reached out to her doctor early, her children were able to access the treatment she couldn’t. She knew that the earlier the therapy was initiated, the brighter the future looked for them. Watch their full story here.