Sarah McCarthy was 20 weeks pregnant when she learned through noninvasive prenatal testing (NIPT) that her son could have XXY. For several days after an amniocentesis confirmed the diagnosis, McCarthy remembers fielding calls from the genetic counselor. She recalls how the genetic counselor “somewhat robotically” disclosed that the majority of those faced with an XXY finding chose to terminate — while continually reminding McCarthy of the narrow time window in which to make that decision. “The approach seemed a little pushy, to be honest,” McCarthy recalls. “They were saying I needed to decide ASAP, which I understood, but they gave me really no education that could allow me to make an informed decision.” 

Left with few resources to guide her, McCarthy googled “Klinefelter syndrome.” Her search yielded an alarming array of decades-old photographs and cartoon-like images depicting a composite of every possible physical, mental and emotional symptom linked with XXY. “I remember sitting on the floor of my living room with my laptop and just crying the whole time,” McCarthy recalls. “My husband and I felt so alone.”

If the nonprofit Living with XXY could have their way, stories like McCarthy’s would be lost to history, and every person who was faced with a prenatal diagnosis of XXY would be quickly dispatched to supportive spaces that authentically share their personal experiences with XXY. And the first stop would be to Living with XXY, a nonprofit organization founded by Ryan Bregante in 2019. In creating Living with XXY, 38-year-old Bregante, who himself was diagnosed with XXY in utero, aimed to offset outdated research and misrepresented images by increasing awareness, building relationships and flipping the script on how individuals and families navigate one of humanity’s most common chromosomal variations. Five years later, the nonprofit’s community is thriving — adding support through professionals, advocates, volunteers and supportive families and individuals seeking information and sharing their experiences with XXY.

In addition to spreading much-needed awareness of XXY worldwide through in-person meetups and conference presentations, Living with XXY offers informational resources via website, videos, blogs, podcasts and social media posts (on Instagram, Facebook and TikTok, to name a few). Today, many genetic counselors, endocrinologists and primary care clinicians are referring individuals and families to the organization, not only because it can help families navigate the complex world of an XXY diagnosis but because it’s become a safe space for individuals of all ages to share their stories and create lifelong friendships. The organization will be at the NSGC Annual Conference this September and hopes to build upon its professional partnerships — including with genetic counselors — to expand awareness and integrate lived experiences into educational opportunities. “Everyone deserves to have the most accurate information at their disposal when they are making a decision, and from my perspective, that has to include insights from the people and the parents of people with XXY,” says Bregante.

Terisa Northcott, a member of the private Living with XXY Facebook group, is grateful that her prenatal diagnosis led her to an organization where she could exchange information and her own positive journey. Like Sarah, Terisa was told after an NIPT test that signs pointed to XXY. But the genetic counselor was conversational and empathetic. “I remember her saying, ‘Don’t Google it,’ because the images and research out there were so outdated,” Terisa recalls. From Terisa’s perspective, the conference with the genetic counselor was nondirective, comprised of more recent research as well as anecdotal observations. “I remember her saying that babies who have XXY are known to be super sweet and loving, and that they may have developmental delays, but not always, and many of them go on to live perfectly normal lives.” Terisa opted not to do the amniocentesis and instead confirmed her son’s XXY diagnosis through postnatal testing.  

Today, both Sarah and Terisa are navigating life with young children. Sarah’s son will be 3 in October, and Terisa’s son just turned 4. While both children had some speech delays early on, they have responded well to therapy. Both Sarah and Terisa credit resources like Living with XXY as a key support tool along their parenting journey — and recommend that genetic counselors tap into them as a matter of course for XXY-related conversations and counseling.

“I can’t pretend to know the workload of a genetic counselor, but I suspect that if they could spend some time analyzing and compiling maybe three key reputable informational links, that would go a long way in helping parents understand what they are dealing with,” Terisa advises.  With Living with XXY in the frame, that journey toward understanding has become a lot more supportive, positive and empowering — and a whole lot less lonely.

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