Parent Testimonial: A Journey Through XXY (Klinefelter Syndrome)
As the mother of an XXY son who did not receive a prenatal diagnosis, I began noticing signs between 10–12 months of age — delays in speech and muscle tone, late walking and potty training, and autism-like behaviors. After a vaccine reaction that caused a hydrocele, he became highly irritable and lost eye contact. I spent tremendous time, energy, and financial resources seeking help from pediatricians, specialists, educators, diagnosticians, and therapists — all in an effort to diagnose, understand, and advocate for my child’s developmental challenges.
Along the way, we were met with repeated insurance denials and patronizing advice from several in the medical community. We cycled through multiple diagnostic labels before finally discovering SCA (Sex Chromosome Aneuploidy). I quickly realized that the diagnosis often depended on the qualifications of the specialist we were seeing or the terminology I used when filling out paperwork — a frustrating and inconsistent process.
Despite having every advantage — a college education, scientific literacy, time to research, premium insurance, and a strong support system — I still felt lost and alone. The condition remained a mystery, and none of the practitioners had enough awareness or up-to-date knowledge to help guide our journey. I never felt like I truly had answers, much less solutions.
After waiting 15 months for an autism workup at the Bluebird Clinic in Houston, we finally received an accurate diagnosis at age 7 through a FISH/Chromosome array test. Now I had hard evidence — something I could use to advocate more effectively with insurance and medical systems. Still, I struggled to find quality, condition-specific information until I found the AXYS Organization a year later. Even then, locating competent providers who actually understood XXY and could offer impactful treatment and advice remained an uphill battle.
So much of my energy went into educating the very professionals from whom I was seeking guidance. I often felt like I had to “convince” educators and medical providers of what my son needed just to get basic therapies. Eventually, I vowed to dedicate my future time and resources to raising awareness and early intervention strategies around SCA — so that no parent would have to fight this hard for their child.
Our goals, like all parents, are simple: to raise a self-sufficient, contributing adult member of society. But we need meaningful support, awareness, and research from insurance, the medical community, diagnostic providers, and our government-funded school systems to make that happen.
Testosterone therapy is a significant part of an XXY patient’s medical future during and after puberty — but, I had years to address co-occurring challenges: reading, writing, speech, comprehension, emotional regulation, and social skills. Yet, because my son didn’t “look” disabled — unlike children with more visibly apparent conditions like Down Syndrome or cerebral palsy — he was often expected to perform like every other child. His condition was invisible, and therefore, to many, it appeared nonexistent.
Early misinformation led to harmful stereotypes, shame, and misunderstanding. Many practitioners simplistically believed that “you just give testosterone at puberty and everything will be fine.” But that ignores the deeper and more complex co-morbidities: auditory processing (CAPD), language delays, executive function challenges, sensory issues, gut-brain dysfunction, eczema, OCD, ADHD, and emotional regulation difficulties.
We found that nutrition, neurofeedback therapy, vision therapy, behavioral intervention, and functional medicine had far more impact than most pharmaceutical solutions. The school-based “early interventions” — like 20 minutes of group speech therapy once a week — were completely inadequate, especially when schools had 12–15 coaches for athletics but only one OT or SLP for the entire student body. We were fortunate to meet one exceptional elementary school counselor who truly made a difference — but stories like his were the exception, not the norm.
Again, we were lucky — we got a diagnosis at 7. But many children with XXY are not diagnosed until puberty (or even adulthood, during infertility testing). How much earlier could their lives have improved if they had received appropriate T-therapy during adolescence and support for co-morbidities in childhood? This is not a rare condition — it affects 1 in every 590 males — yet it is still underdiagnosed and misunderstood by many in the medical field. How many adult men go through life never knowing why they’ve struggled?
The myth that testosterone worsens emotional or behavioral issues is not only false, it’s dangerous. Testosterone can actually help regulate mood, focus, and emotional control — yet hormone imbalances are too often ignored in difficult diagnoses. The years between childhood and puberty — a critical window — are typically void of standardized treatment plans or interventions.
Even after diagnosis, finding providers is difficult. Coordinating endocrinology appointments, dealing with long waitlists, refilling controlled medications, managing varied opinions about treatment, and handling injection-related anxiety is emotionally exhausting for families. At 18, the Xyosted auto-injector became a game-changer. It gave my son control over his treatment and relieved him of years of needle-related fear.
Today, at 21, my son is finally doing well. We endured many misdirected pharmaceutical treatments that didn’t align with his genetics. Compounding the challenge, we dealt with disruptions in care due to moving for my husband’s career. He was pulled from public school in 6th grade — right around the time his father was diagnosed with ALS. After years in residential treatment and behavioral education programs, he earned his high school diploma, shortly after his father’s passing during the height of COVID.
I often felt jealous of the multi-disciplinary care my husband received for ALS and wondered: Why can’t families dealing with SCA receive the same holistic support?
My son is currently in a transitional living program, has a driver’s license, and makes his own truck payment. I asked this program to help him grow from a teen into a man — and I believe we’re on that path. I hope he will soon be living and working independently.
His diagnosis deeply affected his childhood, our family, and his siblings — but I could not be prouder of the young man he is becoming. His resilience, and ours as a family, are a testament to love, determination, and the belief that no child should be left behind due to ignorance of a common, treatable condition. This is a worthwhile endeavor that needs attention, funding, and multi-disciplinary clinics across the nation.