A Mother’s Journey Through the Unknowns of Klinefelter Syndrome

Being a mother is full of unknowns. While pregnant with her first child, Nina learned that her son might have Klinefelter syndrome. She had never heard of it before, but she knew one thing: she needed answers.

When she started asking questions, the doctors didn’t know enough to help. No one could give her a clear explanation. In April 2022, Nina gave birth to her son EJ in Hawaii, where they currently live. From that moment on, she became his number one advocate—asking questions, doing research, and connecting with others who understand.

The Klinefelter Diagnosis

During pregnancy, Nina had non-invasive prenatal testing (NIPT). The results showed the possibility of XXY, a genetic condition more commonly known as Klinefelter syndrome. That word—possibility—stuck with her. It didn’t sit right. She asked the doctors for more information, but the answers felt cold and clinical. Worse, most of the things they shared were negative. “No one could give me a straight answer, and doctors told me not to Google it.”

Of course, she Googled it anyway. And what she found was frightening. Some doctors even mentioned termination as an option, but that didn’t make sense to Nina. How could she make such a huge decision with no real answers? “Let’s just wait and see,” they kept saying. “Wait for what?” she thought. Her biggest fear was simple: would EJ be able to care for himself when she and her husband were no longer around? No one could give her that answer either. After EJ was born, a follow-up blood test confirmed that he had an extra X chromosome.

A Diagnosis and a Disney Trip

The confirmation came during a week when the family already had a trip to Disneyland booked. They didn’t know what the future would hold. Should they cancel? Instead, they boarded a plane to California. While flying, Nina continued searching for answers. That’s when she found the Living With XXY organization. Instantly, she felt some of the fear begin to fade. Reading real stories from families living happy, full lives with XXY gave her hope. She listened to episodes of the Living With XXY podcast the entire flight.

Accepting the Diagnosis

  The first year of EJ’s life was filled with the usual baby chaos. There were ups and downs, but nothing outside the norm—except for a few physical milestones that took a bit longer. Nina often found herself wondering if something EJ did was because of XXY. Still, she and her family focused on surviving that first year and loving every minute they could.

Growing up, Nina didn’t have many boys around, so raising a son was a new world. But EJ is thriving.

He’s active, social, and loves playing soccer. At just a year and a half, he communicates using sign language and enjoys music and swim classes. “It’s wild and crazy, and I think this goes for any mom raising a baby.” Nina feels like she and EJ are the perfect match. She’s someone who loves schedules and staying on track. EJ, on the other hand, reminds her to slow down.

“He mellows me out. He brings me back down to earth. EJ allows me to simply enjoy the moment.” Sometimes, he just wants to sit on the couch and watch The Grinch for the seventh time—and Nina wouldn’t trade that for anything.

Sharing EJ’s Story

“I don’t want EJ to feel like we’re ashamed to share his diagnosis. We are his family, and I want him to know we’re here to support him in any way he needs.” Nina’s support system is strong. Her parents play a big role in their lives, and when EJ was diagnosed, Nina and her husband didn’t hesitate to tell their friends. Keeping it a secret wasn’t an option. She wanted everyone in EJ’s life to know and support him fully. By being open, she hopes to create a safe space for EJ to talk about his diagnosis when he’s ready.

Looking Ahead: Education and Advocacy

Nothing is holding EJ back right now, but Nina knows that challenges may come later—especially with school. With her background in education, she’s already preparing. She knows that not all kids learn the same way, and that’s okay. There are resources out there, and she plans to use every single one of them.

People have started asking what kind of school EJ will attend. Nina doesn’t have that answer yet—and she’s okay with that. “Each school has a different mission. EJ might not fit in one, but thrive in another. He’ll let me know what works best for him.” She’s ready to stand up for EJ in whatever way he needs. If you’re also thinking about this, you might want to read How to Stand Up for Your Child’s Educational Rights.

Advice to Other Parents

Nina continues to ask for referrals and new information from doctors. Every little bit helps. Living in Hawaii comes with resource limitations, but she refuses to let that stop her. “You think you do everything right. And you don’t want to blame yourself, but it’s hard not to. Was it the fish I ate? You don’t know, and that’s scary.” The internet can be overwhelming. Nina recommends not reading too much into what you find online. Instead, find other families. Connect. Learn from people who are walking the same path.

Reading stories from other mothers helped her feel less alone. Seeing families just a few steps ahead made all the difference. Even when each situation is unique, shared experience matters. “Google Klinefelter syndrome if you must—but don’t stop there. Reach out. Ask questions. Get support.” If you’re getting prenatal testing, think about why you’re doing it. Ask questions. Don’t be afraid to seek clarity. Nina wanted to know if her son would live an independent life, and while doctors couldn’t give her that answer, others living with XXY could.

Today, Nina finds strength in the Living With XXY community. It has helped her family see the future with more clarity and more hope. “It’s a place that understands. A place where people get it.” To read another story from a parent who’s been there, check out A Mother’s XXY NIPT Diagnosis.