Twenty-eight-year-old Heather* has three children and is living in Alabama. Her youngest son Tyler*, was diagnosed in utero with Klinefelter syndrome last year. She shared her story about what it was like to be offered a Klinefelter pregnancy abortion.
For Heather, the decision to have another baby was difficult on multiple levels. She and her husband already had two children, a boy and a girl, and had decided that was the correct number for their family. In addition, their son had been diagnosed with non-verbal autism at age five. Though it had no bearing on the decision at the time, it seemed to be the right one. After a few years, though, they discussed having another baby. Heather was sure she wanted another baby, so they decided to take a leap of faith and have one more child.
It didn’t happen right away. They tried for several months, even experiencing an early miscarriage early. She was excited but nervous when she finally got the call confirming the pregnancy. It had been an admittedly lousy day. COVID-19 was rampant, and she had spent the day taking her oldest son for genetics testing alone, which made the task much more difficult. She didn’t feel like the pregnancy was going to last. The feeling lingered until she saw her obstetrician, and the doctor reassured her that she was young and that though she had some health risks, everything was going as planned. She had no idea she would be offered a Klinefelter pregnancy abortion in the coming weeks.
Heather’s physician ordered routine blood work done around the 12-week mark. It came back at high risk for Trisomy-13. The markers were incredibly high for a woman her age, and the doctors were sure the baby would be born with Down syndrome. She was shocked. The couple went back the next week and had a Nuchal Translucency test, and a few different blood tests. When the tests returned, they determined the baby didn’t have Down syndrome but an extra X chromosome. They also knew the baby was male. Her obstetrician told her the NIPT test she had been given was positive for Klinefelter syndrome. They referred the couple to a high-risk OB/GYN.
Heather remembered getting the call while she and her husband were midway through selling a car and headed out the door. Her husband asked what the call was about, and she distractedly replied, “that was the nurse line; there was something unexpected in the screening.” The statement sent his mind directly to autism, but she had no time to research and clarify this. She then called her best friend to ask her to Google what Klinefelter syndrome was since she was driving. Her friend did, and the first thing she saw was that it only affected males. She told Heather she was having a boy and explained what she could find about Klinefelter syndrome. She was also pregnant with a boy, so the two women were extremely excited.
Klinefelter pregnancy abortion:
When she hit the 17-week mark, Heather went for an ultrasound. The couple had done some research on Klinefelter syndrome and had entirely accepted the diagnosis. She was eager to have the ultrasound and to see him move around. She shared her joy with the tech. Since she has Factor V Leiden disorder, which may make it harder to stay pregnant due to a clotting issue, they were careful throughout the pregnancy. The specialist came in and offered to do an amniocentesis, and without giving them a chance to react, followed up with, “after we do the amnio, you can decide if you’re ready to evacuate.”
Heather was “dumbfounded” and shocked to be offered a Klinefelter pregnancy abortion. They live in an area of Alabama that is mainly conservative, and abortion is illegal unless medically necessary. Though pro-choice, she felt it was unsuitable for her or her family. In addition to being shocked by how casually her doctor suggested aborting the baby, she was stunned 47, XXY was even on the list. They declined the amniocentesis based on her health status and flat-out refused a Klinefelter pregnancy abortion.
She expressed to her referring physician that she wasn’t comfortable with the specialist, and though she wasn’t sure what exactly was said, they saw a different doctor on their next visit. The doctor they have now, while at the exact center, has a vastly different approach and is a much better fit for them
Pregnancy and delivery:
At around 23 weeks, Tyler’s abdomen seemed not developing correctly, which was one of a few possibilities. The doctors decided to monitor the situation carefully, with a plan of inducing Heather at 37 weeks. She didn’t make it that far and went into labor at 34 weeks, giving birth on the same day as her best friend. They confirmed at birth that Tyler had 47, XXY.
Tyler as a baby:
Tyler is almost a year old now. Due to his early delivery, he spent his first two weeks in the hospital. He was a tiny preemie, weighing in at just 4 lbs and 12 oz at birth. Now, he is doing well. He spends a lot of time with her best friend’s son. Where he is boisterous, Tyler is softer and slightly timider, but the babies already have a connection. He successfully breastfed with no issues and is starting to wean and try solid foods.
Tyler is hitting milestones as a preemie would, slightly behind but not too noticeably. Heather says Tyler “is a happy baby who loves mama.” She admitted she does compare him to her oldest son, and he is doing considerably better at hitting his milestones. His muscle tone is pretty good, and he is progressing toward being mobile in the next few months. Heather and her family love where they live and feel embraced by the community. Her husband works in law enforcement, and people are supportive.
What medical providers should know:
Heather and her husband were given very little information about the diagnosis. Much of what they know has come from Google. The nearest specialist is four hours away in Birmingham, a trip she is uncomfortable making during covid. Heather found a fantastic pediatrician working to educate herself on Klinefelter syndrome.
They have discussed early testosterone shots with her and decided they don’t think they are necessary for her son. Other than the pediatrician, there was no education or discussion before that, just a diagnosis, which should change. Telling newly-diagnosed mothers to google it and read the info on the CDC website is not productive.
Navigating the diagnosis:
Heather felt particularly angry as she watched him develop at a slow but relatively standard rate, that termination was discussed so matter-of-factly as if it was the expected route.”If you’re going to terminate, you need to understand why you’re terminating, what that medical condition means for you, and what it means for your child.” Jackson is now walking with the assistance of objects like the couch or walker. His muscle tone is still a little “squish,” a condition known as hypotonia, but for now, it is “developing beautifully.”
She stressed that you would never know, looking at her son, that he has any delays unless you were told. She added, “I often look at him and recall that moment in the high-risk office, and I am so happy I chose him. He is a blessing every day, and it breaks my heart to know that mothers decide to abort simply because they don’t know what or who exactly it is that they are aborting.”She wondered, “If she were not already a special needs parent, then what? If I wasn’t a mom of three and didn’t have a special needs child, and I was just told, ‘you can terminate’, I don’t think I would have done it because my husband and I were trying to get pregnant, I don’t know, because there is fear behind the misunderstanding.”
What she would say to new parents:
“Find a community locally or on Facebook and ask questions there. Doctors are great, smart, and deserve to get paid what they get paid, but they are very clinical. And if they don’t have life experience, all you’re getting are notes from a textbook. And the CDC is helpful but can’t answer personal life questions.” Heather herself has a handful of friends and is very open with them and their families about Tyler’s condition. As a busy college student, she has not had the opportunity to find as much support as she would like but expects that to change once she settles into a regular schedule in May when she graduates. Her last advice was simple, “everything seems impossible until you’ve done it. Keep that in mind. Lead with love.”
*Names have been changed to protect the family’s privacy.