Teen with Noonan Syndrome Competes at 2023 Special Olympics BC Winter Games

The 2023 Special Olympics BC Winter Games took place from February 2-4, 2023. Sporting events at Winter Games include 5-pin bowling, curling, figure skating, alpine or cross-country skiing, and more! Reported by the Keremeos Review, 14-year-old Yorke Parkin, who has Noonan syndrome, represented his community at the Winter Games by participating in different skiing events!

It has been eight years since Parkin first pursued his interest in skiing. While he first learned the sport through participation in a skiing club, he has since found a deep love and appreciation for the sport. Since then, Parkin has dived into training. He skis at least four times weekly and visits the gym just as much. Currently, he feels most fulfilled when he is skiing fast and achieving his goals on the mountain.

To qualify for the Winter Games, Parkin first won the Special Olympics BC Alpine Skiing Regional Qualifiers in 2022. His Winter Games competition took place on February 3rd, 2023 – and we are anxiously awaiting results to see how Parkin did this year! 

About Noonan Syndrome

Noonan syndrome is a rare genetic disorder which may be inherited or can result from a spontaneous gene mutation. A number of different genes, including SOS1, RIT1, RAF1, KRAS, and PTPN11, have been implicated in Noonan syndrome development. This disorder causes abnormal growth and development in different areas of the body. An estimated 1 in every 1,000-2,500 people has Noonan syndrome. It appears to affect more males than females.

Symptoms are variable in nature. These can, but do not always, include:

  • Short stature and delayed growth
  • Wide-set pale blue or green eyes
  • Drooping of the upper eyelids 
  • Intellectual disability
  • Developmental delays
  • Abnormal spinal curvature
  • A sunken or protruding chest
  • Low-set ears, rotated backwards
  • A small lower jaw and poorly aligned teeth 
  • Delayed puberty (in males)
  • Short nose with a broad base and a deep groove between the nose and mouth
  • High arch in the roof of the mouth
  • Short neck with excess neck skin 
  • Heart abnormalities, which may include hypertrophic cardiomyopathy and pulmonary valve stenosis
  • Excessive bruising and bleeding

Treatment options are symptomatic and include surgery, medication, eye exams, physical therapy, growth hormone, and speech therapy.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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