After experiencing years of infertility, Amy and Michael were thrilled to welcome their oldest son Matthew through IVF. A couple of years after Matthew’s birth, they discovered they were pregnant again, this time without any intervention. As Amy was 39, her doctor suggested a NIPT. The couple was surprised with an infant Klinefelter diagnosis.
Infant Klinefelter diagnosis:
Noninvasive prenatal testing is generally considered the norm for women over the age of 35, with a history of fertility issues, or may have genetic indicators. After the blood sample was taken, Amy put it out of her mind. However, when she was about 15 weeks pregnant, Amy received a phone call from her midwife. The midwife let her know the routine screening had flagged something. It was 99.9% likely their second son would have Klinefelter syndrome, or 47, XXY.
Before calling, the midwife had Googled the infant Klinefelter diagnosis and was able to share a small amount of information. She said, “Your baby will likely need testosterone when he hits puberty. There can be some challenges with learning when he’s younger and emotional things. It’s a spectrum, so he may be more or less affected by developmental delays.” She added that Klinefelter syndrome is the one she would want if her child had a chromosomal variance.
The midwife referred the couple to a genetic counselor at OHSU, a nearby teaching hospital. She comforted the parents by telling them it wasn’t a doom and gloom diagnosis. Their child wouldn’t have a shortened or diminished life because of it.
After struggling with fertility issues, including the loss of Matthew’s twin, Amy said the idea of terminating the pregnancy never even crossed her mind. Miles was their miracle baby. Michael and Amy decided since Klinefelter syndrome was a spectrum disorder, it could mean their child would be minimally impacted. It wasn’t something she was willing to terminate a pregnancy over. She recalled thinking, “I’m having this baby. I felt protective of Miles.”
Once the decision to continue had been made, the rest of Amy’s pregnancy went smoothly. Miles was born at the same birthing center as his older brother Matthew. Amy’s water didn’t break, so her labor was fast and intense. Miles was born partially in a caul, which is rare. The midwife remarked it was “considered to be a lucky thing for your baby that he was born this way.”
Miles was a very calm, relaxed baby, even with his infant Klinefelter diagnosis. Amy referred to him as her “Buddha baby,” as he was very mellow and rarely cried. He took to nursing immediately and had a tongue tie revised at two weeks, which made nursing even more successful for them.
Miles as a toddler:
After Miles was born, it didn’t feel necessary for Amy and Michael to immediately pursue a formal diagnosis. They assumed he had Klinefelter syndrome because the NIPT percentage had been so high. They decided instead to watch him and see how he progressed. She felt lucky to know what to care for and closely monitored her growing son.
Miles took longer to hit some developmental milestones. He skipped crawling and went right into walking at almost two years old. He moved from supported sitting to a push walker to get around the house before eventually taking his first unassisted steps.
By the time they had Miles formally diagnosed, Amy had already accepted it and therefore didn’t feel surprised. Instead, they focused on getting Miles into as many early intervention programs as possible and started services when he was 19 months. A speech therapist came to their home and taught Miles speech exercises to help him master different sounds. At age three, Miles moved to a center for speech therapy, where he received care in groups with other toddlers.
Around age three, Miles started attending preschool. While he enjoyed it, the family started noticing some social skills delays. While he loved the company of other children, Miles didn’t seem to know how to make friends. The difficulty seemed to lie with expressing himself when something happened with other children. While he could understand what they said, he got upset and angry when he couldn’t get the words out. Amy and Michael noticed the difficulty in communication started around age three and seems to have “amped up” over the years. They continue working on helping Miles develop those expressive language skills as a family.
Unfortunately, the COVID-19 pandemic didn’t help. Miles was very social and wanted to play with other children, which the pandemic made difficult. While he initially started with in-person kindergarten, he had to finish the rest of the year remotely after the pandemic began. The last two years were remote, but the family hopes to get the kids back into school when everyone can be vaccinated. They were able to get Miles back to school in person in late March, which he enjoyed. His second graduate class had 26 students, so they opted to have him participate in distance learning through his school’s remote learning program.
Sharing the diagnosis:
Miles’ infant Klinefelter diagnosis has never been a secret in their family. Amy was “really upfront and let everyone know” immediately, all of whom were supportive. While most had never heard of Klinefelter syndrome, she was ready to educate them. Amy let them know their plan to support Miles. The program included continuing with early intervention and preparing him for testosterone replacement therapy as a teen.
After Amy met Ryan and learned more about Living With XXY, she crafted a post for Facebook to bring awareness to Klinefelter syndrome. The post was well received, and she shared it with a large parenting group. She felt good about educating others and increasing visibility for Miles. He’s known for a long time about his diagnosis and is aware some things are more difficult for him than other kids. She tries to put herself in his position of seeing his brother and sister doing things like riding a bike, which is difficult for Miles to do.
Some things are more difficult for Miles than other kids, such as getting dressed or putting his shoes on. While previously he wasn’t interested in riding a bike, he has made it a goal to learn to ride this summer. Whenever he faces a challenge, Amy is there to support him. She said, “I can just imagine how much strength it takes for him to push through and keep trying.”
Amy continues to be a big proponent of bringing awareness to the community. Before connecting with Living With XXY, she wondered how she could do so. She felt happy to discover someone with Klinefelter syndrome was running the organization and found many parallels between Miles and Ryan. Now that Miles is getting older, she gets his permission to share about their lives.
Living With XXY:
One of Miles’ biggest loves is playing with Legos. He’s excellent at following the guides and also enjoys crafting his creations. He has lots of creativity and will spend hours in his room developing new designs. He’s also into video games and enjoys playing with his older brother.
He has a great sense of humor and enjoys telling jokes. He loves to have Amy read to him from joke books and memorizes all the answers. He’s started to develop an interest in reading and spends hours curled up with a book or magazine. Even though art isn’t something he’s “super drawn to,” he enjoys creating his own colorful and unique creations.
Miles is a sweet, snuggly, and loving kid. He enjoys snuggling up with Amy at bedtime to read books. Even on days when he struggles with regulating his emotions, Amy is often reminded that “at his core, he’s this kind, snuggly, little guy.”
In addition to being sweet, Miles is also a compassionate little boy. This leads him to struggle with expressing what he’s thinking and feeling. When he can’t get the words out, he sometimes finds himself experiencing outbursts of emotion. He knows that some things are harder for him than others, which sometimes makes him sad. During a recent hard day, Amy said, “Buddy, things are sometimes harder for you than for other people. Does that make you sad?” Miles replied, “Yeah, Mom, it’s tough. It’s not fair.”
It breaks her heart that at only seven, Miles has already had to learn that life isn’t always fair. She encourages him, tells him he’s loved, and lets him know they will continue to help him as much as possible.
Plans for the future:
To help Miles with his impulsivity, the family started him on medication. They’ve noticed some improvements and are hopeful the medicine will continue to help with his ADHD symptoms. They’ve also set an appointment with Brain Balance for the spring, which they hope will help Miles’ executive functioning skills. They had Miles evaluated by the staff at Brain Balance. The results indicated the therapy would be beneficial for him. The family opted to try private occupational therapy first to help boost his lagging skills because of the cost of the Brain Balance program.
They plan to continue talking with Miles about his Klinefelter diagnosis, which he is already aware of. Amy said, “I just want him to understand there’s nothing wrong with him, and he’s not bad. He’s not doing anything wrong. He can’t control everything, like his impulsivity.”
What she would tell other mothers:
When asked what she would want other mothers receiving an infant Klinefelter diagnosis, Amy said, “I would say it’s so important, to be honest with your kid about their diagnosis. It’s important to tell them early that there’s something different about them.”
She added, “I think it’s also important for someone with a small baby or pregnant to be prepared that your child might have more challenges than you expect because Klinefelter syndrome is a spectrum. Be ready and get your support group around you. Learn to advocate for your child with doctors and in a school setting. Letting the teachers know that advocating for your kid is important and a big deal. I want parents to get their support system around them and prepare for their child, thinking ahead about how we will support this kid. If we start noticing delays, let’s have him evaluated for early intervention. It’s essential to have support from other parents who get it. The sooner you start early intervention, the sooner you’ll build that support around you. Community is important.”