A man diagnosed with a rare syndrome has opened up about how he realized something was off with his body.
At conception, we inherit a unique set of chromosome DNA compositions that determine our biological sex as male or female.
However, some individuals experience variations or depletions in their chromosomal makeup, leading to conditions like Down syndrome, Jacob’s syndrome, or Edwards syndrome.
Some may be born with a single chromosome, while others, as is the case with certain syndromes, have three.
For Seamus, his awareness of an additional chromosome came to light through sexual health concerns, leading to a diagnosis of a condition affecting one in every 500 to 1,000 men globally.
Seamus shared his experience with ABC, recalling the moment of discovery.
“So I was born with an extra chromosome. I went to the doctor and I was feeling tired and I was wondering: ‘What’s going on? Why do I feel like this?’ Maybe you’re depressed, maybe you’re overworked.”
However, he never anticipated the reality of his condition.
At 31, Seamus was informed that he had been born with an extra X chromosome, resulting in 47, XXY or Klinefelter syndrome.
Now 34, Seamus explained that this condition results in low testosterone, impacting his reproductive health, mood, energy, and libido.
He described the condition as presenting challenges such as learning difficulties and fatigue in males, while emphasizing that 47, XXY does not equate to increased femininity.
Nonetheless, symptoms can be subtle until later in life.
Seamus elaborated, “Most people don’t get diagnosed until their late twenties or early thirties, when they’re trying to have a kid, for example.”
This is due to the fact that men with this condition often can’t produce sperm and face sexual difficulties.
Reflecting on when he realized his differences, he said, “I knew I had physical differences when I was 23, when I was sexually active and meeting other people and I knew I looked different.”
He recalled other men questioning why his testes were smaller than average.
Describing them as ‘kind of like a grape size,’ he explained that this is why men with 47,XXY typically can’t father children.
Seamus highlighted that erectile dysfunction is a significant issue associated with the extra chromosome, causing him to feel ‘less of a man’ when he couldn’t achieve an erection.
After enduring this dysfunction for three years, he felt ‘ashamed, embarrassed’ and his ‘energy levels would be down.’
He was often exhausted, constantly hungry, and without any clear answers. It wasn’t until a meeting with an endocrinologist that he received an explanation within ten minutes.
The diagnosis felt akin to a personal loss, and learning he couldn’t have children was devastating. However, support from those around him provided comfort.
“Thank God to my mum, she was trying to get me out of that hole that I was in,” he said. “She comes from a medical background and so she said, look you can go on testosterone, there’s a chance you can have kids.”
Encouraged by this, he sought out a specialist for his condition, who advised testosterone injections every 12 weeks as treatment.
Today, Seamus encourages other men to have their reproductive health assessed by a professional to receive timely assistance.