AXYS shares articles about our community members to help you gain understanding of X and Y chromosome variations on a personal level. Please enjoy this article and learn about XYY.
You’d notice Uldis Silgailis. A stocky guy, 6’6’’ tall, is hard to miss. But like most men with an X or Y variation, medically known as a sex chromosome aneuploidy (SCA), everyone missed his condition.
As a child, Uldis liked to sit quietly in the back of the class and daydream. He was a smart kid from an academically accomplished family. His teachers and family thought he was just not applying himself. “It was tough to hear the comments from ‘why are you acting so immature?’ to ‘what’s wrong with you?’ over and over.”
He knew he was different and that school was harder for him, but nobody could explain why. In middle school his family finally got him tested. The child development experts diagnosed him with ADD and dyslexia and put him on medication. Uldis did not react well to the meds; they gave him night terrors.
Not only was school difficult, he had physical differences too. “I had low muscle tone,” said Uldis. “That made sports challenging. I’d rather do individual activities like hiking.” His parents required him to play sports. That was not enjoyable for a boy who had a harder time keeping up physically, found it hard to focus, and who missed social cues. Uldis was not timid physically—he loved extreme sports like glade skiing. He also loved solitude and quiet. “I’d go hide in a corner and read a magazine.”
In spite of his challenges, Uldis made it to college where he was an average student. His love of learning served him well. “I like to go to museums, travel to places and explore. Reading about places is not enough.”
Despite social challenges, he married a college professor. When they had trouble getting pregnant they discovered he was not fertile because he produced no sperm. A low sperm count is not that unusual but to produce zero sperm was puzzling.
Uldis wanted to know: why he did not produce any sperm? Why did he get migraines? Why was his muscle tone low? Why did his hands get shaky? Why was he so much taller than his 5’ 9” father? But then came the Internet. Uldis began to research his medical issues.
He came across something called Klinefelter Syndrome and took his knowledge to his primary care doctor. The doctor agreed to order some tests, but Uldis, tired of waiting for answers, checked off a few more boxes on the lab sheet making sure a battery of tests was ordered, increasing the likelihood that he’d finally get the answer he sought. It was good thing he did, as he discovered his hormone […]