One in A Million: Mason's Story

One in A Million: Mason's Story

By Nonjabulo Mlangeni

In the latest blog on our website, we profile Mason Ling, who shares his unique experience as someone with mosaicism. Unlike many people with Klinefelter's, Mason has a combination of 46 XY and 47 XXY, making him extremely rare. Read on to learn about his journey to diagnosis, and how he's managed to thrive.

An Uncommon Start

Mason Ling's story is different from the many we've covered on this blog. He's been diagnosed with mosaicism, a condition where someone has two or more groups of cells in their body with a different genetic makeup. In Mason's case, this looks like some cells having 46 chromosomes while the others have 47.

In some ways, his life experiences mirror those of others with Klinefelter Syndrome, except that his symptoms have often been milder. As a result, he remembers very little in his childhood that made him feel different or isolated. There was no shyness, fatigue or social challenges; just a handful of things he can look back on and connect to XXY using the knowledge he has today.

One was frequent dental problems. Many men with XXY report a range of dental symptoms, from greater tooth decay to taurodontism. Mason recalls seeing the dentist often as a kid, for one issue or another, and having many of his teeth pulled. Today he still has one baby tooth because a permanent one never grew in.

There were also learning challenges. He struggled to concentrate in class and found it hard to understand what he was reading, which made it hard to perform well during testing. When he was 8, a doctor diagnosed him with attention deficit disorder (ADD) and encouraged his parents to put him on Ritalin. They declined, being uncomfortable medicating him at such a young age.

Looking back, Mason believes they made the right choice, and that the ADD was a misdiagnosis. Ultimately, his school had support systems in place that helped him do better. But that's really the extent of it. Overall, Mason remembers his childhood fondly. He found it easy to make friends and was actively involved in sports, which helped him build and strengthen those social bonds.

The Love of the Game

Although he wasn't a gifted athlete, he was always willing to put himself out there, from pitch baseball to sledding in the wintertime. He even tried his hand at football for a season but quickly tapped out after one too many blows.

He shares a few of his mishaps with me, laughing from an easy place. A time he got knocked out during football ... a time he went to catch a pop fly and took a baseball to the face. It's funny now and it was funny then, because he was never in it for the glory. It was just an experience; a day in the sun with friends, a way to pass the time.

Today, he encourages boys with XXY not to count themselves out, because there's more to sport than winning and losing. Mason himself stayed away from competitive leagues and focused on intramural events, which were more laid-back.

"A lot of us aren't very athletic, but you've got to just keep working and practice ... What I noticed is that I would try harder than most people did, and that gave me a bit of an advantage. I have a competitive nature and that drives me to try a little harder as well."

When I ask about the source of his confidence, his answer suggests that he's a product of his household. He was born into an active family that was often outdoors. Because his parents were adventurous and outgoing, they built an environment that naturally nudged Mason to follow suit.

"I never wanted to just sit at home and watch TV," he says. "I loved nature and always wanted to be outside doing something. We lived by the woods, so I'd make mountain bike trails with the neighborhood kids or play backyard football and backyard baseball."

Around the seventh grade, Mason started to experience occasional breast pain and sensitivity. It was a burning sensation that he'd typically notice in the wintertime, after he'd gone sledding. Because it wasn't constant, he assumed it was a natural experience that came with puberty. Today, he believes it was related to gynecomastia.

A Shock to the System

Mason's path to XXY diagnosis was long and marked by different moments that seemed to add stone to the trail. It started after high school, when he chose to join the navy. To qualify, he had to pass a physical exam. He vividly remembers going into a private room with a doctor, getting undressed, and watching the situation go from awkward to unforgettable.

"He [looked at] me and asked, 'have you been through puberty before?' And I was 17 years old."

Mason was confused. "I said, 'I don't know, you're the doctor ... what do you mean?' And he just said he needed to get a second opinion. He left the room and came back with a colleague. Then both of them were there, looking at me then whispering to each other and looking back."

Incredulous, Mason watched the doctors leave the room and come back in, just to check his facial hair or talk amongst themselves. Neither offered an explanation to make him feel at ease. Then just like that, he heard he was free to go.

Today, he knows that smaller testes can be a symptom of Klinefelter Syndrome, and that's probably what prompted the doctor's curiosity. But at the time, the whole thing just felt confusing and degrading.

He'd passed the physical exam, but the mood had shifted ... as if he'd lost something instead of gained it. He'd entered the room with a sense of normalcy but left feeling like something was wrong. And worst of all, he didn't know exactly what.

"From then, I knew something was off ... and from age 17 to 35 I was really embarrassed about [my body], because I knew something was different, but I didn't know what it was."

Disturbed by that experience, he also became wary of doctors and didn't feel comfortable pressing them for information.

"I never wanted to talk about it with anybody, and didn't know who to talk to about it, because doctors were always looking at me, but they never said anything to me. They never brought anything up. I just had that one instance that was very off-putting for me."

Mason ultimately spent four years in the navy, from age 18 to 22. In retrospect, he sees that some of his experiences during that time were also shaped by XXY.

"I remember all my weight would go to my abdomen. We'd all work out, but people pointed out that it looked like I had no muscles in my legs at all. But that's part of having lower testosterone, our muscles don't develop the same way as our peers."

Although he noticed that his friends held their weight differently and bulked up more easily, he didn't know why or consider looking into it. There were other things on his mind. He was a young man living away from home for the first time and starting an exciting new chapter.

His time in the navy helped him grow up faster, though he didn't travel as much as he'd hoped to. He spent the entire four years on a pre-commissioned ship, sharing close quarters with his peers. When he wanted to see something new, he'd have to hit the road to find it. When he wanted time alone, he'd hop in the car. It was during this time that his love for driving grew, laying the foundation for his future career.

A Rare Human

After the navy, Mason tried college for a stint, but trucking was a better fit. He was on the road for five years, and it was during this time that he met the woman he'd eventually marry. As things got serious, he made a career change so he could be home more.

They started trying for kids as soon as they got married. But after two years, they weren't getting anywhere. When his wife started taking hormone medication, he had a sinking feeling that she wasn't the one who needed help.

His suspicions were confirmed when he went for a semen analysis, and the doctor told him there was no sperm in his sample. More tests followed. He eventually saw an endocrinologist, who told him it could be Klinefelter's, but they'd have to wait for the karyotype results to confirm it.

"When I was trying to figure out what it was, it was incredibly emotional for me," he says. "It was very, very tough. I waited a little bit to find out but [ultimately] got diagnosed with Klinefelter Syndrome in March 2023. But where I'm a little different is that I actually have mosaicism."

Doctors had tested 20 metaphases of chromosomes in Mason's body and found that 14 of them were 47 XXY and 6 of them were the "regular" 46 XY. This explained why he didn't experience Klinefelter's the way that many others do.

"How they've explained it to me is that part of my body has the regular 46 XY chromosomes, and that [is why] my testosterone was actually 300 at age 35 ... my symptoms aren't as severe as someone whose whole body is 47 XXY and [that may be why] my testosterone wasn't as affected as my peers. The doctor said I'm more rare, but I'm still infertile."

More recently, however, Mason did see a dip. He began to experience brain fog, low energy, low libido and difficulty completing work tasks. During his last check, his testosterone was 250. At the time of this interview, he'd been on testosterone therapy for two months and felt his energy and mood lifting. He continues to enjoy the outdoors, and credits nature and his dogs with helping him push past depression.

In the aftermath of the diagnosis, Mason and his wife ultimately opted not to have kids. Like any other foundational life choice, this one didn't come fast or easy—but they're at peace with where they've landed.

"I'm totally cool with not having kids ... I tell her, 'we can be the best aunt and uncle.' She has a sister that just had a kid, and if my brothers ever have kids [too], we could be a great aunt and uncle to them. If not, we can be great dog parents. That's just how we've been putting it."