Femke Weidema has had an exciting journey in life. Her pregnancy with son Ender, diagnosed with 47, XXY in utero, has proven to be no different. Here is their story about her unexpected Klinefelter pregnancy diagnosis.
Originally from the Netherlands, Femke moved to the United States about fifteen years ago after being accepted to Berklee to study music. While at Berklee, she learned to write music, which led her to Los Angeles, and film and tv work. Though she enjoyed working in Hollywood, her real love was songwriting. About six years ago, she moved to Nashville and realized her dream when she was signed up with a publishing company as a songwriter. Music also led her to her husband. He works as a front-of-house engineer for a big country band, and their paths cross through their work. They married at the end of 2019. In their thirties, they talked about children reasonably early in the marriage.
As Femke explained, they discussed pregnancy, but while they realized time was ticking as they were in their mid-thirties, they didn’t expect it to happen so quickly. She laughed at how it worked out; in the “first year of marriage, pregnant, boom!”
Her pregnancy was progressing well, her morning sickness was non-existent, and she and the baby were doing fine. However, she was termed a geriatric pregnancy since she was over thirty-five. Her doctor urged her to have a NIPT test.
Unexpected Klinefelter pregnancy diagnosis:
The results determined that she was having a boy and that there was a high possibility of an unexpected Klinefelter pregnancy diagnosis. The baby likely had Klinefelter syndrome (KS) or 47, XXY. Femke vividly recalled what she was told on the call, “so you usually don’t know what the sex of your baby is until they give you a piece of paper or whatever it is. Well, this woman called me, and she was like, ‘yeah, we just got the results back, and we see a high probability of your child having Klinefelter syndrome. Let me know what you would like to do.”
Femke was confused by the last statement and disappointed that this was how she was finding out the sex of her baby. She made an appointment to see the doctor, and they assured her she had plenty of options.
Klinefelter Pregnancy Termination:
At that point, Femke still had no real idea what she was talking about when the gynecologist mentioned “options.” The doctor hadn’t given them any idea of what Klinefelter syndrome was or what options they had for treatment. When they saw the doctor later that week, she clarified what she was getting at by saying, “if you want to terminate, let me know within a couple of weeks.”
Femke was taken aback, “I was thinking, ‘wait, what terminate? What is this? I thought maybe it was something like Down syndrome or something.” She googled Klinefelter syndrome and went “down the deep, dark hole of the internet where there is no positive anywhere.” This sent her spiraling. Terrified, the couple went to see a geneticist who recommended an amniocentesis. The couple agreed it was a good idea. They wanted to “know before she delivered the baby what the situation was.”
Waiting for the results of the amniocentesis:
The couple was hopeful this could be some mistake. They weren’t getting much information about what was wrong exactly, and what they were getting was spotty. The thing they heard most was that doctors “didn’t know.”
The medical professionals they had dealt with so far also didn’t have much information about Klinefelter syndrome, which struck her as strange. “If it’s worth terminating over, shouldn’t you know what? Why?”
The two weeks of waiting for the amniocentesis results were “just awful.” When they got the phone call confirming that it was Klinefelter syndrome, Femke admitted feeling “just…so devastated. I didn’t know what it was mainly because I felt the idea of having the perfect baby… With this pregnancy going so great and many people around me also having babies, I suddenly felt like I was mourning the ‘perfect baby’ loss because I didn’t know what any of it meant.”
They again asked if she wanted to terminate, though she still couldn’t see any real reason. She even asked, “what would be the reason for me to terminate this child? Because it doesn’t seem worth doing.”
The doctor had no answer and kept reiterating questions about whether a child with Klinefelter syndrome would “fit with their life.” Femke was confused. She couldn’t understand why her Klinefelter Pregnancy Diagnosis and child wouldn’t fit in with their life. “I kept thinking, is there something that I’m missing? And I remember asking many, many times, is this like autism? Is that why there is such a chance for termination? [The doctor] couldn’t give me a good reason, which I thought was strange.”
Grieving and learning:
When Femke found herself grieving about the unexpected Klinefelter pregnancy diagnosis, she realized she had to change her mindset about what her child was diagnosed with and how she would deal with it. Her husband seemed to take a more positive view of things. He said, “It’s going to be fine,” and “we’ll see how everything goes.”
She decided to follow his lead but be a little more proactive. She wanted to understand what it meant to have Klinefelter syndrome and what was ahead for her child and their family. Femke started studying everything she could about babies with 47, XXY. Her research led her to the Focus Foundation, and she set an appointment.
The couple came armed with a list of questions. They spent more than an hour with the doctor, who explained everything. Finally, someone was giving them the answers that they needed. She gave them hope with her feedback and the success stories she shared. She gave them resources and urged them to make an appointment with their team of specialists when the baby was born. Femke and her husband were reassured.
Pregnancy and delivery:
The rest of her pregnancy went great. Femke found she had no issues and was a little surprised by this. Between the unexpected Klinefelter pregnancy diagnosis and how they had stressed her age, she thought it would be more difficult. Though it took her a few months to accept the diagnosis of 47, XXY, now that she had, she was eager to meet her baby.
When it came time for delivery, their pediatrician admitted he was “excited” because “in his 20 years of practice, he had never met someone with Klinefelter syndrome”.
Unfortunately, her delivery was rocky, and she was left with postpartum issues that took longer than she would have liked to clear up.
Finding resources for Ender:
When Ender was born, Femke signed up for a state-offered program that connects new parents with parents who have children with similar issues. Femke thought this resource was “so cool” and hoped they could meet some more parents in the Klinefelter community. A few weeks later, the agency responded and said they couldn’t find anybody in Tennessee. She was shocked. There was no way that they were the only family in the state, with KS being as common as the numbers suggested. After searching some more, the social worker found a woman in North Carolina whose son was twenty-four.
The dichotomy was interesting to Femke, “I kept thinking this seems like this scarce thing, but everything I read about it, it’s not rare at all. It was like this weird thing that didn’t exist.”
Ender saw the pediatrician, and they were referred to an endocrinologist. The endocrinologist, after examining Ender, basically advised them to “just come back when he’s 11 or 12, and we’ll talk about it. There is no reason for you to be here.”
Advocating for Ender:
Femke and her husband disagreed. She said, “that feels weird because I want to be proactive. I want to make sure I can help him. I want to know what I need to watch for regarding speech, development, motor skills, and all that stuff.” She asked the endocrinologist if he believed in hormone therapy because they had decided to see a specialist about early intervention. He told them he didn’t and “wouldn’t support it.”
This made the couple start to question themselves. Though she had researched thoroughly, doubt began to seep in. “That made it hard for me because I was like, ‘Am I trying some sort of experimental treatment on our child?’”
An appointment at the Focus Foundation helped alleviate those fears. The team took time with them, doing tests, and explaining different things that could happen. They even connected with their pediatrician and set up a treatment plan for Ender. “It was a very comforting thought to have someone with so much experience guide us through it,” Femke said.
Sharing the news:
“We told both of our families. It was hard to explain because we didn’t know, so initially, we told them all the terrible things we had found.” Her mother, who still lives in the Netherlands, Googled it herself and got even more confusing information from Dutch sources. Though they were loving and accepting, they didn’t understand precisely what Klinefelter syndrome was.
Once Femke and her husband got a handle on it, they were able to make her parents understand exactly what his condition entailed. These days they are very open about Ender’s diagnosis. “I feel there is nothing to be ashamed of, first of all. And it’s part of his development. Some children will develop a speech problem when they’re three, or they have a lisp, and they’ll have to go to classes,” Femke explained. “And just because we know in advance that he could have certain issues with things, I don’t think that’s secret.”
They also have a precise treatment plan which requires them to travel to Baltimore twice yearly. This has caused her to be even more open because she has to ask for time off and make people aware of his condition. Ender is also taking speech and OT and will soon be enrolled in PT when he is ready.
Living with XXY:
Femke smiled when asked about Ender and said, “he is perfect,” and I can’t imagine him not being here.” She talked about an experience with a German Klinefelter syndrome mom and how terrified the woman was about having a child with significant issues. “In retrospect, I think that’s what my genetic consultant had meant when she said, ‘you have to decide if it’s right for you in your life. If that’s something that you could handle.’ I think that’s what she meant. Are you able to put that in the lives that you have? But I still don’t see what the problem is.”
Ender is 18 months old now. Femke said he is a sunny child who is always smiling. “I’m amazed at how happy he is.” He’s “doing great,” and she has noticed wherever they go, people compliment him and tend to be drawn to him.
What she would say to other parents:
As soon as the mother gets the diagnosis, Femke said she should talk to another mother with a child with Klinefelter syndrome. “I feel that will help much more than just the internet disasters. And be part of the foundation.” She also said the Living with XXY Facebook page was “beneficial” during her pregnancy in informing her about KS and connecting her with others dealing with it.
One of the things she wished someone had told her early in this way was, “try to enjoy your pregnancy. It took a couple of months for me to feel super sad about all of this. And processing it and the grieving process, and the acceptance process. I wish I had found somebody who knew about KS who said, ‘enjoy this. It’s going to be beautiful. No matter how he comes out, how he’s going to be ten years from now, it’s going to be great “
What healthcare providers should know:
Most of all, she would stress that they must provide much more information before suggesting termination after an unexpected Klinefelter pregnancy diagnosis. It was just a diagnosis. She also felt the genetic consultants did not offer enough support or contacts. There was no “I know a mom” support system provided. “I know that’s not part of the job, but I feel it should be.”
Femke also emphasized the importance of having a team and doctors communicating with one another. She felt this could be lacking unless you carefully choose the right professionals and make sure to be a part of the communication process. With a team firmly in place, Ender is in good hands for a successful future living with Klinefelter syndrome.
This was so so so helpful as a new parent of a baby boy who was prenatally diagnosed. If you’re open to connecting, I’d love to hear more about your experience, specifically with the Focus Foundation, as this is something we’d be looking to do too. Thanks!