There were hundreds of athletes participating in Vermont Special Olympics’ Basketball tournament this past April at UVM Patrick Gym. There was also a full range of disabilities and ages represented. However, there were several athletes that looked on the surface as if they had nothing wrong with them: people might wonder why they participate in Special Olympics. One boy in particular stood out to me and his name is Matthew.
Matthew is 11 and has Klinefelter Syndrome. He looks like any other 11-year-old boy, albeit tall in stature, but beneath the surface lie subtle physical differences and cognitive issues. Fortunately, Matthew’s parents recognized early on that something about their son was different from normal kids and pushed the medical field to find a diagnosis. Thanks to genetic testing, they got their answer when Matthew was 6 years old.
Klinefelter Syndrome is a genetic mutation on the 47th chromosome where an extra X occurs, resulting in XXY. The symptoms only affect males, and, like most disorders, symptoms can vary from one individual to another. Common characteristics include weak muscles, small testicles, delayed motor skills, low energy levels, difficulty expressing feelings, attention problems, and learning problems. According to Matthew’s parents, Matthew exhibits symptoms of ADHD, anxiety, learning disabilities, difficulties regulating his emotions, problems recognizing social boundaries, and memory issues. He will also likely need testosterone treatment when he is older.
Despite these problems, Matthew is a loving boy with a great sense of humor! He loves music and dancing. But his passion is sports! He participates in Special Olympics year round in soccer, basketball, swimming, and bowling. He also participates in Vermont Adaptive Skiing and has mastered moguls!
There is little media and social awareness of chromosomal variation. For this reason, Matthew’s parents, Tim and Donna Pouliot, advocate for their son and others who suffer from this disorder. With the help of their advocacy this past May, Governor Shumlin proclaimed May “X and Y Chromosome Variation Month” in the state of Vermont. Hopefully, this recognition raise awareness about the number of conditions associated with X and Y chromosomal variation.
I have seen Matthew on two separate occasions. Based on my observations, he is a friendly, energetic boy who is incredibly excited to participate in his sports. To the general population, he might look like any other 11-year-old boy but for the fact that he was participating in Special Olympics. The bottom line is: when you see someone who might look normal but act a little different, just keep in mind that they might have a disability that you are unaware of. Be respectful and have an open mind about what the child—and their parents—might be going through.
For more information on genetic disorders please visit: http://genetic.org