Written By: Chelsea Castonguay
Alex is a 34-year-old man with Klinefelter Syndrome living in Centennial, Colorado. He’s a gregarious, self-described ginger, with a bright smile, and infectious laugh. Having been raised in Colorado, Alex began looking for opportunities to expand his world view after graduating from college. When he joined the Peace Corps, he was excited to be assigned to Rwanda, which is in East Africa. However, the experience wasn’t exactly what he was hoping for when Alex was struck by a series of mysterious, debilitating symptoms. Upon returning to the United States, he began a long, and at times confusing, journey to discover what was at the root of his health issues.
Growing up, Alex was sandwiched between two brothers. He described his childhood as “fine”, keeping the conversation brief before going on to talk about his high school years. In high school, Alex was active, participating in tennis and martial arts. He also served as Captain of his school’s fencing team. In his early years, he didn’t notice any significant physical or emotional issues, nor did any of the many doctors he saw for regular sports physicals pick up on any differences.
However, during his junior year he began experiencing the start of the mystery symptoms that would plague him for almost two decades. Alex said some of the symptoms decided to “crop up right when I was taking [my] SATs to get into college.” A usually bright and capable student, Alex scored shockingly low on the SAT exam. He did particularly poorly on areas of the exam where he was performing well in school, which caused his AP English teacher to question if Alex failed the test purposefully. He retook the exam, earning the exact same low score, but performing better in different areas. However, this didn’t deter Alex’s ambition to pursue higher education, and after graduation he enrolled at the Colorado School of Mines.
Alex threw himself into collegiate life, and got involved in fencing again. However, as he began taking college-level courses, his abilities to complete his assignments seemed to be slipping. Despite countless hours of studying, and assistance from tutors, Alex found himself failing classes over and over. He was encouraged to “study harder”, but said with all the “tutors on the planet, [he] just couldn’t get physics, no matter what.” The difficulty he was experiencing in physics began bleeding over into other courses, making him think that perhaps engineering wasn’t for him. After two and half years of little academic progress, Alex summoned the courage to withdraw from the Colorado School of Mines.
He transferred to Red Rock Community College, where he took general education courses, and “knocked it out of the park.” From there, Alex went on to Colorado State University, feeling the generational pressure to finish something. Believing that achieving a degree would be a door-opener for career opportunities, Alex wrapped up his higher education journey by completing a degree in philosophy in three semesters. Having transferred twice, Alex felt isolated from his peers, as he no longer had a graduating class to connect with. He left Colorado State with just a few friends, but his degree in hand.
Peace Corps: “there was a link missing.”
After graduation, Alex came to the “terrible realization” that he was still toiling away at the job he had while in school. Not wanting to spend the remainder of his days slinging bagels and buttering baguettes, he began considering his next move.
Ultimately, Alex decided to apply to the Peace Corps as a chance to broaden his horizons and see more of the world. A year and a half after submitting his application, Alex was on his way to Rwanda in 2011. It was there, in a country that was strange to him, and halfway across the world from anything familiar, that Alex began to experience a flare-up of the old mysterious symptoms. In addition to feeling as though he was “blocked,” Alex couldn’t seem to grasp the language. While he was supposed to be sent home after failing his language exam, he was allowed to stay. on the condition he would buckle down and apply himself to learning the Rwandan language, Kinyarwanda.
In an effort to help him assimilate, Alex was placed with a Catholic priest as his supervisor, and his home was the local Catholic church. Several times a week, Alex and the priest studied the native language, but despite the individual tutelage, it didn’t take. When describing the difficulty of learning the language, Alex said it felt as though “there was a link missing.”
Alex began experiencing what he referred to as “dark days.” During those lost hours, Alex did what he could to maintain his grasp on his mental health. Feeling as though his “entire identity had fallen apart completely,” Alex spent hours alone, watching downloaded movies just to make it through the day. When the Peace Corps realized the severity of his depression, he was sent back to the United States for further treatment. However, arrival stateside brought an unpleasant surprise: he’d been remanded to a mental health facility by the Peace Corps.
When he objected to the placement, Alex was told he was free to not pursue treatment, but if not he wouldn’t be allowed to use his Peace Corps experience on his resume. He decided to check into the hospital for treatment. Alex gave the Peace Corps the benefit of the doubt, saying he believed they were trying to help, because at the time he was “the biggest liability on the planet.”
Even during the hard parts of the conversation, Alex continues to smile, and gestures frequently with his hands to make his points. His positive attitude is obvious, bringing smiles to the interviewer as well. Alex said he found the doctors at the hospital “hilarious,” because they were as confused as he was about why he was there. He felt the treatment wasn’t necessary, as the doctors openly admitted they didn’t know what was wrong with him, but Alex decided to make “the best of it.” During his stay, he met a couple of patients who’d never shown improvement over the years they’d been in treatment, so he spent time chatting with them. He said those people began showing improvement after their conversations, and there was “cheerful me chatting up everybody; totally not in a place I’m supposed to be at.”
Diagnosis: “It was just me with this packet of paper…and the Internet.”
After his release from the hospital, Alex was given several months of credits by the Peace Corps to continue his treatment with a psychiatrist. While in treatment, Alex began trying a variety of medications, including lithium, to help regulate his mood and bring him back to normal. However, an odd thing kept happening. He said that while the medications would initially work, after a day of relief he’d be back to his regular depressive state. He learned this response happens when someone’s “not supposed to have that medication.” He continued pressing forward, despite experiencing terrifying side effects from the medications including out-of-body experiences and disassociation. After running through the gamut of medications, Alex’s psychiatrist posed the idea the issue might be physical. She said in her opinion, the only thing left for it to be was an issue with his testosterone levels.
She sent him off for bloodwork, which came back indicating his testosterone levels were in the low range at about 500 ng/DL. This is when Alex began receiving a variety of confusing or misleading information about what was happening with his physical health. While he was informed a healthy male at age 30 should have a ng/DL level of 1,200, his was rapidly dropping. A normal testosterone level for a healthy male in Alex’s age range is 300 – 1,000 ng/DL, according to the Food and Drug Administration.
While waiting for the results of his blood work, Alex was shuttled off to a urologist. He was given a prescription for Cialis to address issues with sexual performance, and told he would “be fine.” Soon after, his blood work came back indicating his testosterone levels had reached 300, and were continuing to rapidly drop. Around this time, Alex noticed his mysterious symptoms had returned, and were getting worse. He was experiencing significant digestive problems, and brain fog, making it difficult to concentrate.
The progress towards a diagnosis continued, with Alex being asked to give a semen sample to determine if his semen was viable, as well as more bloodwork. The next round of tests revealed his testosterone levels were 80% lower than other healthy men in their early 30s. He was requested to start testosterone treatments, but was denied until the root cause of what was causing his low levels could be determined.
Finally, Alex was passed along to an endocrinologist. She took blood samples once more, as well as a karyotype test. Alex was told it would take up to six weeks for the test results to come in. However, the lab rushed the results, and ended up delivering a packet of information to Alex on a Friday afternoon. Upon opening the envelope, Alex tore through the pages, trying to make sense of what he was seeing. There, he found the words, “subject is positive for Klinefelter Syndrome.”
Alex spent the evening processing what seemed like nonsensical words. “It was just me with this packet of paper, living at my parent’s house, still there by the way, and the Internet.” He found himself wondering, “Who is this Klinefelter prick, and why do I have his disease?” What he found on Google was “super frightening.”
Of doing internet research before talking to his doctor, Alex said “…that was horrible, the first two things Google says are “you’re infertile” and “here’s all the diseases you can get much easier” and it’s like, “oh shit.” While struggling to process, his naturally analytic side kicked in, compelling him to dig into research papers to absorb as much information as possible. He acknowledged this wasn’t necessarily the best approach, because “you’re not supposed to read about all the shit people go through, especially before the doctor, right?”
Alex reached out to his best friend and confided the shocking news to him. Having faced his own health challenges, the friend encouraged Alex to tell his parents as soon as possible. Taking his friend’s advice, Alex sat his parents down and told them the news. His parents heard his news with a “look of horror,” which prompted Alex to assure them he had several doctors who were “trying to take care of it.”
Alex’s parents had mixed reactions to his news. He described his father as receiving the news “silently” which Alex explained was a normal reaction for his father, but still hurtful. There wasn’t much conversation about it until about a month later, when his parents apologized for not taking him seriously when Alex had told them about his mysterious symptoms.
Treatment: “life is good.”
The next week after receiving his diagnosis, Alex was able to connect with his endocrinologist, who helped walk him through treatment options. She assured him that his feelings were valid, that receiving this diagnosis was a “big deal,” and encouraged him to find some support groups. She discussed the tests he’d need to monitor his health, and confirmed he’d need to be on testosterone for the rest of his life. Realizing his testosterone levels were dropping to dangerously low levels, she recommended an immediate course of action.
Alex was scheduled to begin receiving testosterone pellets, which are inserted under the skin on the patient’s backside. He described the in-patient procedure as “very painful,” and said the process included receiving Lidocaine to numb the area, and a slice was made in his skin, into which the pellets were inserted. Regarding the pellet treatment, Alex said, “It hurt so bad…it was a tough time in life. I need testosterone to live, and it’s the most painful treatment on the planet. I’m supposed to get this for the rest of my life? That sounds horrible.”
The pellets needed to be replaced every four months, and Alex began counting down the days to his next round of treatment with increasing dread. As he approached the fourth treatment, Alex was “so not looking forward to it” and “would try to pump [himself] up for them.” Alex would head to the local shooting range, and fire rounds from the largest rifle available. With this infusion of “thunder in his veins,” Alex tried to gather the strength to go forward with another intolerable treatment.
However, as time went on Alex realized while the pellets took the edge off for him, it wasn’t a complete fix for his symptoms. The pellets “got rid of the lows”, but he never experienced the “high” that some describe from finding the right balance of testosterone. Alex felt as though he was operating on a level of stasis, but never really recaptured “that happy part” of his life he had before going to Rwanda.
Alex went on to have a meeting with a urologist, who while lacking in bedside manner, was able to help trouble-shoot how Alex could better receive the testosterone he needed. The pellets were $1,500 per treatment, and in order to meet his insurance deductible he was paying for the first two treatments per year out of pocket. In addition to the trauma caused by the insertion of the pellets, the cost was difficult to absorb.
Therefore, Alex was shocked to learn from his urologist that most men his age didn’t use pellets as a treatment. Instead, his urologist recommended Alex begin a course of injectable testosterone, which while cheaper, still came with a learning curve. After going two weeks without his testosterone, Alex was able to schedule a meeting with the office nurse, who briefly instructed him on how to administer the bi-weekly treatment. While he “aced stabbing” himself, Alex left the appointment without any written instructions, raced home, and wrote down everything he could recall. He requested a follow up appointment, but was told it would cost him “another $75” for further instruction.
This left Alex to try to figure it out on his own. However, Alex found some relief when he connected with Ryan Bregante, who shared a YouTube video he’d made of self-administering his testosterone treatments. Ryan uses a tool called an auto-injector, for which he shared a code with Alex to help reduce the cost. Alex immediately ordered it, and says using the auto-injector has made taking his testosterone much easier. He’s still a “little weirded out by it,” but finds switching thighs also makes it more tolerable as well.
After this, his endocrinologist began taking over monitoring his treatment, which required regular blood work to monitor and stabilize his testosterone levels. When he realized he would go through what he describes as “dark days” about every two weeks, it was determined that was when his testosterone levels would dip. As a result, his endocrinologist upped his dosage, and moved his injections to every ten days.
At the ten day mark Alex found his “sweet spot” for testosterone. He says with his current dosage, “life is good,” and he no longer experiences low days. When his endocrinologist reaches out to see if Alex wants to adjust or change his dosage, Alex declines. He says he has “zero desire” to change it, because “this is the closest [he’s] ever felt to being alive before Peace Corps.”
Life with Klinefelter Syndrome: “things are going great.”
Alex is now in year three of his treatment for Klinefelter Syndrome. Despite the fact that he’s adapted to his routine of getting the medication, administering it, and waiting for the next cycle, he said he does still struggle with the idea he’ll have to be on testosterone for the rest of his life. He doesn’t think too much about the rest of it, as his endocrinologist has taken over the management of his health scans and exams, which takes that off his plate.
There are other times when the reality of the situation strikes him, such as when he receives texts about his nieces from his older brother. He struggles with the idea that having biological children who resemble him is something that currently feels out of reach. These feelings were compounded when he confided his infertility to a woman he was dating. She didn’t respond to the news well, and ended the relationship. While he didn’t feel bad for telling her about having Klinefelter Syndrome, he did feel some guilt for telling her so soon into their relationship. As marriage and having children were an ambition of hers, he felt as though she should have the information sooner rather than later.
In his work as a wine and spirits distributor, Alex spends most of his time interacting with his clients. This leaves him without a lot of opportunities to connect with his supervisor or coworkers, so he hasn’t shared his diagnosis with them.
Over time, his parents have come to accept his diagnosis. When he had returned from Rwanda, they struggled to fully understand the depth of what he was going through, and at times suggested it was something Alex was imagining. At the worst of his symptoms, Alex applied to be assessed at the Mayo Clinic, and had been accepted. However, his parents forbade him to attend, and instead sent him to Arizona to meet with a homeopathic doctor. After they had some time to absorb the information he presented to them about Klinefelter Syndrome, they apologized for not believing him. Eventually, they began doing their own research, which Alex appreciated. His mom in particular would bring up a tidbit she’d learned, which helped Alex feel less alone.” While his father seems to have accepted it, he struggles with visual reminders of Alex’s condition, such as seeing needle wrappers in the bathroom trash can. Alex told his brothers, but it seemed to be a non-issue for them, and isn’t something they’ve discussed further.
Today, Alex says things “are going great.” He’s recovering from an ulnar nerve surgery, with another planned for the fall 2020. He plans to move out of his parents’ home in January 2021, and get “back into the real world.” He says he tries not to think about having Klinefelter Syndrome, and doesn’t often share it with others. “I don’t think I even understand it enough, what’s wrong with me, to convey it to the person opposite me, because I don’t want them to feel sorry for me.” He isn’t opposed to telling people, but doesn’t feel it’s necessary, as it won’t change the situation. These days, he mostly keeps his diagnosis to himself.
As a self-described introvert, Alex recharges from his very social job by spending time alone. After work and on the weekends he can be found listening to music and creating abstract art. His favorite medium is paint on canvas, but he also enjoys pen. He also finds solace from hiking, and enjoys cooking. As he struggles with small talk and large social gatherings, he’s happier to “go into [his] own little world, and [is] perfectly thrilled in there.”
However, despite the challenges having Klinefelter Syndrome presents at times, Alex says having an understanding of what’s happening with his body has been a good thing. Even though he said the diagnosis “broke his world,” there were positives that came from receiving that rushed lab order. After years of being told by family and doctors that there wasn’t anything wrong with him, or his symptoms were all in his head, he now had tangible proof that there was something medically wrong. Even though there isn’t a cure, there’s treatment, which makes Alex feel positive about the future.
Thanks for sharing. One day I will be brave enough to do that.
Thank you for reading and leaving a comment. Although a difficult journey at first, the end result of sharing feels good. I strongly recommend it.
Hey Alex, glad to read your story here. Thanks for sharing!
Wow that’s intense. Glad to read You’re story. Thanks for sharing. I’ll be put a story on I’m working with Ryan.
Thanks Nate, looking forward to reading yours!