An Unexpected Klinefelter Diagnosis
By Chelsea Castonguay
From birth, Allison* knew there was something different about her son Max*. Something wasn’t adding up, from struggles to latch to seemingly never-ending difficulties in school. When a nurse noticed something during a routine exam, the family was shocked by an unexpected Klinefelter diagnosis. However, looking back, Allison can now see where all the connections were made and how Max had been living with XXY all along.
During her pregnancy with Max, Allison had no idea an unexpected Klinefelter diagnosis was in their future. Everything was okay with his pregnancy up until birth, until she tried to latch him for the first time. Almost immediately, Max struggled to stay latched. There was a lot of pain and tears while Allison tried to figure out what was happening. The nurse became frustrated with her, seemingly irritated that techniques that had worked for countless other infants weren’t working with Max.
Allison recalled, “I remember it vividly; the nurse pinching my breast and pushing it into his mouth. It felt so wrong as a new mom to have that invasion right off the bat. I told her to leave me alone and said I’d work on it.”
Once they got home, Allison was able to get Max to latch. Their nursing journey wasn’t easy, as Max repeatedly developed thrush. It would get passed to Allison, causing nursing to be painful for her. They spent a lot of time in the doctor’s office trying to determine the cause.
Things they noticed:
As Max grew, small things stuck out to Allison about his development. He had a “hard time” with tummy time, and it “wasn’t working for him.” He was limp, without the muscle strength needed to hold himself up. As he grew into a toddler, he avoided crawling in favor of scooting from place to place. He ran on his tiptoes and struggled with his balance. This led to many falls, including “cracking his skull open multiple times.”
The speech came later for him, and Allison’s grandmother noticed Max’s delay. She offered to pay to send Max to speech therapy, which Allison declined. She said, “no, we communicate fine,” and felt put off by the offer. Even though Max didn’t have many words, they could communicate well. Allison recalled, “He was my first kid. I had no frame of reference. It felt like “there’s nothing wrong with my boy; he’s perfect how he is,” and I wasn’t ready or willing to understand there was something different going on with my kid.”
Allison described the school as “its beast.” Max loved the social aspect. He enjoyed spending time with friends and going to birthday parties. While he gravitated towards girls to play with, he also always had a couple of close guy friends he could count on. Even though he struggled with hand-eye coordination, he enjoyed baseball and played for several years.
By third grade, the scholastic differences between Max and his peers had become more apparent. At a parent-teacher conference in third grade, the teacher said, “I just accept less from Max. He just really can’t keep up with the other kids.” In fourth grade, the teacher showed an example of artwork the students had done, and Max’s was “night and day different” from his peers.
Max’s learning style:
Allison said she began to “feel an adversarial relationship with teachers because they didn’t have other ideas, only that my kid was faltering in school.” Trying to solve the mystery herself, Allison pushed hard for Max to have testing for learning disabilities in fourth grade. The tests didn’t unveil any learning difficulties but implied he had ADD. However, this diagnosis didn’t make sense to Allison, who knew Max had a good concentration in subjects that interested him. Max was a quiet, low-key kid who didn’t cause problems in class, which had allowed him to fly under the radar for so long.
At that point, Allison became directly involved in all of Max’s schoolwork. They were able to get him a 504 plan. This allowed her to read him his assignments and dictate his answers. Together, Max and Allison stumbled through the next couple of years to keep their heads above water. When baseball fizzled out for him, Max’s father got him into dirt bike racing. It was something that Max loved and was something outside of academics where he could shine. He also enjoys fishing and loves heading to the local river with friends to cast a line.
The family relocated from California to Washington state when Max was in sixth grade. They continued working together on homework, but Allison still felt like something was missing. When Max was fourteen, she heard an advertisement for the Brain Balance program. They brought Max in for a two-hour assessment, and the results were illuminating. It was discovered that Max was “left brain weak.” As a result, his right brain was controlling most of his eye movements. Rather than his eyes remaining focused on his reading, they bounced all over the page. This helped explain some of Max’s ongoing struggles with reading and comprehension.
They immediately enrolled Max in the program, despite the expense. Despite the considerable cost, Allison had shared her son’s challenges and discoveries through Brain Balance with some very special individuals at work. Her coworkers made donations directly to Brain Balance on behalf of Max so that he could attend the program at no cost to their family. This was so special and important to their family. They hope that anyone wanting to go through the program would have opportunities like this or at least have it be covered by insurance someday.
It was a year-long program; they drove an hour and fifteen minutes each way for his biweekly appointments. The program started working on a series of exercises to help redevelop his body. Allison immediately noticed Max’s confidence building, and his skills improved. He felt comfortable going to the program and enjoyed the attention he got from the instructors. Knowing what was happening with Max gave Allison “a big relief” in her heart. The program gave them hope that Max could live a fulfilling, self-sufficient life.
Freshman year proved to be “really rough” for Max. He couldn’t stay organized and, as a result, received several failing grades. He was also frequently behind in assignments, so Allison had to pay extra attention to his schoolwork. Things got better after the Brain Balance program, and Max was able to enroll in a pre-apprenticeship program through his school. Instead of spending the entire day on traditional academics, he’s involved in welding and carpentry. He’s thriving in the program.
Unexpected Klinefelter diagnosis:
In November 2020, Allison took her sons to the pediatrician for a routine checkup. During the exam, a male nurse noted that Max’s testicles were smaller than average. He took Allison aside and shared he suspected Max might have something called Klinefelter syndrome. He ordered blood work to confirm the diagnosis.
Allison took the boys home in complete shock and turned to Google for more answers. She was “very dismayed” by the negative information she found online. Allison was “emotionally devastated”, while her husband wanted to take more of a wait-and-see approach. After a couple more days of research, Allison stumbled across Living With XXY and felt she could begin to calm down. She listened to every podcast and read what she could find on the website. She recalled thinking, “this is my kid. I knew it. This is what Ryan went through, and he’s fine. So I didn’t keep suffering. I knew it was what it was, like yeah, this has to be it.” They told Max what was happening, taking the news in stride. It was still relatively abstract at the time, as nothing had been confirmed.
The official diagnosis:
However, the official diagnosis still was several months away. They were referred to an endocrinologist and had to wait for the results. By the time they met with the endocrinologist, it was May 2021. When the doctor confirmed the diagnosis, the significance of the news overwhelmed Max. He felt devastated at the idea of potentially not being able to father children of his own). He broke down crying, asking the doctor, “are you sure? Are you sure this is it?” Allison was gutted upon seeing her son so devastated.
The doctor confirmed the unexpected Klinefelter diagnosis and asked Max if he had any questions. He broke down the chromosomes, explaining it in more detail, and let Max know he would likely be infertile. He referred the family to a geneticist for further conversation about microTESE and future fertility options. Learning about advances in fertility for XXY men, plus having discussions about adoption or sperm donation, helped put his mind at ease. He knew he could someday be a dad.
Living With XXY:
At the meeting with the endocrinologist, Max was started on a bi-weekly intramuscular testosterone injection which has been recently increased to weekly, to get his levels into the “normal” range. He’s been on it for a year, and the family feels it has made “a big difference” for him. His reading and writing skills have improved, as well as his grades. Max is doing much better at keeping up with assignments and monitoring his grades. He’s felt more organized and self-motivated, reflected in his schoolwork. When he received the diagnosis, his testosterone levels were “very low” and were close to a more normal level.
While Max is 6 feet, 4 inches tall, and the tallest of his family, he has always been lean. With testosterone, he’s begun filling out more. Overall, Max feels more confident, is pursuing his driver’s license, and will work at a fabrication company as a welder for the summer. After spending so many years worrying about him, Allison said, “Finally, this mother can relax.”
While they aren’t secretive about the diagnosis, they are cautious about who they bring into the fold. After Max confided about the diagnosis to a girlfriend, she spread the news after they broke up. As a result, Allison has encouraged him to be careful about who he shares. She looks forward to when he’s out of high school and can be more comfortably open about his unexpected Klinefelter diagnosis.
What she wished others knew:
When asked what she wished others knew about Klinefelter syndrome, Allison said she wished healthcare providers knew more. She’s often had to educate doctors about the condition. She also wished their pediatrician had noticed the signs in Max as a child, and he had been diagnosed sooner.
She also felt it essential for teachers to better understand Klinefelter syndrome to help identify and correct areas of struggle earlier. If they’d known at a younger age, they would’ve been able to get him academic help sooner. She felt that having awareness of these indicators would help a child receive a diagnosis sooner, and therefore the parents could help get interventions going as well.
*names have been changed for privacy.
Thank you for sharing your experiences. I am so glad to hear that Max is now thriving.