Meet the Jenkins-Nardelli family.

Here is the story of their remarkable little XXY boy Preston, who will turn 5 in February!   

After a healthy and successful pregnancy and the birth of their son Giancarlo (now 7), Laura and Jaime planned for another child. At 13 weeks, they were surprised to learn that their son had 47, XXY, or Klinefelter syndrome. When given the news of the diagnosis, they looked to their doctor for support, and she suggested termination. 


 Jaime has a daughter, Viviana (now 22), from a previous marriage. After Laura’s successful pregnancy and the birth of Giancarlo in 2016, Jaime realized she wanted to carry another child, and this is when her IUI/IVF journey began. 

After several unsuccessful 1 IUI/IVF procedures, Jaime was finally pregnant with two fertilized embryos! At first, she was nervous about having twins. Jaime wondered, at 40, if it would be more challenging to care for and raise two babies. However, that nervousness quickly turned to excitement as she imagined and planned for a life with twins!

Not too long after this news, however, Jaime learned that one embryo didn’t survive, and the NIPT (non-invasive prenatal test) showed that the remaining embryo tested positive for Down syndrome. The geneticist recommended further testing with a CVS to confirm these results. The diagnosis could be from the embryo that did not survive.


When the geneticist called with the results, she said she had exciting news. “The surviving embryo tested negative for Down syndrome but positive for Klinefelter syndrome.” She immediately advised Jaime not to google it, reassuring her that what she would read online was not always accurate and much of the information was outdated. Despite what she was advised not to do, Jaime naturally began her internet research, called her OB/GYN for guidance, and felt utterly devastated.

Based on what she read online, she wondered how different he would look, whether he would be bullied, and struggle in school, what developmental milestones he would miss, and how a shy and reserved boy would fit in her loud, rambunctious family. The pictures and stories she found were profoundly upsetting, and she turned to her OB/GYN for advice.


They scheduled a meeting with the genetic counselor and her team. In the meantime, Jaime attended a regularly scheduled OB/GYN appointment. Jaime had shared a good and supportive relationship with this provider and was hopeful the doctor would help support and guide her through this difficult time. 

When Jaime expressed her concerns and fear of the unknown, with hope for some reassurance, the doctor just told her she needs to “Do what is right for you, it’s your body and your life,” and then asked her at the end of the appointment what she wanted to do with the pregnancy. Because her doctor was unfamiliar with Klinefelter syndrome, she offered no encouragement or positive feedback about the diagnosis.

Their doctor suggested terminating the pregnancy as it was unclear how challenging raising a child with Klinefelter syndrome would be or the quality of life this child would have.

Meeting with the geneticist team:

The team met with Jaime and Laura and said, “Listen, we work with Klinefelter kids all the time, and…[mostly] you would never know that these kids have an extra chromosome. And many men don’t even know until they’re older.” The team informed them that most information was outdated and things had changed. There are options today that weren’t there for people diagnosed in the past. Based on her online research, Jaime was concerned their son could experience learning issues, look different from other children, and worried about how he would feel when he realized that he wouldn’t be able to have children of his own. 

The team of geneticists reassured her that there had been advances in medical research and technology, and who knows what the future would hold when he was ready to have children. She learned about testosterone treatments and a procedure known as microTESE, where they can extract viable sperm to use or freeze so he could potentially have children. They discussed services available today for kids who may struggle academically and behaviorally. They gave her the support, hope, and knowledge she needed to go forward and enjoy her pregnancy.

In the future: 

Though they’d decided against termination, they determined Preston’s diagnosis would be private. They wanted people to know their son before sharing the news. Jaime worried if they told people from the beginning, everything he did or didn’t do would be associated with the diagnosis. After they’d made their decision to be quiet about their son’s diagnosis, Jaime started to connect with the XXY community. 

Once she discovered Living With XXY and began following Ryan’s journey, Jaime wondered;

“Why are we doing this? We must tell people about this amazing little boy because I don’t want this to be a secret. I want him to embrace what he has and what it is and normalize it. I want him to educate people, and I want to educate people.”

As they slowly began telling more people about the diagnosis. Family members asked if their son would be gay and where the chromosomal variance came from. They wondered what caused it and if it was from using donor sperm.


The rest of Jaime’s pregnancy went smoothly, with Preston being a very active baby. Jaime got induced at 39 weeks, and the delivery went swiftly. Preston was born with the umbilical cord wrapped around his neck, but he was delivered safely with the OB/GYN’s quick actions. Jaime and Laura were finally able to meet their son. 


Today, Preston is a healthy and vibrant 4-year-old boy. He is determined, and if “he wants something, he doesn’t stop until he gets it.” He reached every milestone as a baby with no delays. They opted to give Preston the early testosterone shots, which Jaime felt helped his overall physical development.  

Preston is outdoorsy and physically active. He loves to run and climb, resulting in cuts and bruises. Preston doesn’t let an injury slow him down. Even though he can be rough sometimes, Jaime also said he’s gentle, kind, and loving. He attracts so much attention because he has this way about him.

People are drawn to Preston and want to be around him.

Physically, he can keep up with kids twice his age and is a socially happy and active little boy. His challenges are no different than any other boy his age without a Klinefelter diagnosis. Preston is tactile and loves to help cook, dance, run, and climb. He loves food! He will try anything, and his favorite food right now is sushi.  

 What they want people to know:

Jaime feels that no one would terminate a pregnancy if they knew their baby would have diabetes. Just like Klinefelter syndrome, it’s lifelong. It’s manageable, and you can live a long, happy, healthy life.

Jaime credited Ryan and Living With XXY as one of the major deciding factors in supporting her through her pregnancy journey. Four years later, no one could imagine a life without Preston. He brings laughter, love, and color to his family and everyone lucky to know him. 

Before considering terminating an XXY pregnancy:

  • Do current research.
  • Talk to genetic counselors.
  • Join support groups.
  • Connect with families with positive stories to share.