The voice of Anna Lopatkiewicz-Kowalski
Anna is the mother of four children, three living and one heavenly rainbow baby. While Anna and her husband thought their family was complete after two children, they were surprised with a third, unexpected pregnancy. Tragically, they lost that baby 18 weeks into the pregnancy due to an unknown cause. They were devastated. Seven months later, Anna became pregnant again, with a rainbow baby. This is her story of receiving a prenatal diagnosis of 47, XXY, and how the family is doing now.
Beautiful Rainbow Baby:
After having a very negative experience with their provider during their miscarriage, Anna switched providers when she discovered she was pregnant again. Her new provider was more positive. To be proactive, she suggested a NIPT due to the previous loss, which was suspected to be due to Trisomy 13. Anna had been told the stress of the potential T13 diagnosis may have significantly affected her previous loss. When she went through the NIPT for Nathan, she told herself to breathe to not end up in the same scenario again.
Anna remembered the day she received the news. She recalled, “January 27, 2020, will forever be etched in my memory. That’s the day something genetically different got flagged.
They said, “Well, the great news is it’s not Trisomy 13 or 18, but something shows up as XXY. Oh, and by the way, it’s a boy.”
Anna and her husband had planned to be surprised by the baby’s sex. In one phone call, they learned they were not only having a boy, but there was something genetically different about their baby.
A lack of information:
Although deeply relieved it wasn’t a trisomy diagnosis, Anna immediately wanted to know more. Her doctor claimed not to know anything about Klinefelter syndrome despite having delivered babies for years and referred the family to a genetic counselor. While Anna and her husband did some research before the appointment, they waited until meeting the counselor. However, the experience was terrible.
Anna recalled, “Genetics created this picture. My husband and I went to genetics counseling, and the picture they created was this monster. Our child would be this monster. He would have boobs and wide hips, all the words you don’t want to hear. The young counselor showed them a picture of a deformed human being, indicating their child would be mocked and laughed at.
Despite this fear-mongering, Anna and her husband were determined to welcome their rainbow baby. They said, “Abortion is off the table for us. That’s not something we are even choosing to discuss.” Even if their child had a trisomy disorder, they would’ve seen the pregnancy through to the end.
Confirming the diagnosis:
The family opted for an amniocentesis to confirm the diagnosis, hoping the results would show their rainbow baby didn’t have 47, XXY. Three days later, they received the call they were dreading. Their baby did indeed have Klinefelter syndrome. When she remembered the pain of that phone call, Anna began to cry. Instead of providing information or comfort, the genetic counselor said,
“I know you said let’s not discuss abortion, but maybe you need to think about it.”
Later that day, Anna and her husband attended a routine OB appointment, where their doctor encouraged them to “think about their older children.” He asked, “Are we sure we want to put them through this?” Although claiming not to know much about Klinefelter syndrome, the doctor opined, “They would be lucky if their son were a bagger at one of the local grocery stores.”
A frustrating experience:
Though satisfied with her doctor, Anna was hurt and upset by his callous words about her son’s future. She felt frustrated by him and the genetic counselor, who were “ill-informed and frightened you more when you are already frightened by this diagnosis.” Additionally, her provider didn’t offer abortion services, which confused her about why he pushed the issue so intensely.
Anna and her husband began to wonder if they were doing the right thing to continue the pregnancy. She was 17 weeks pregnant, close to when she lost her previous pregnancy. They hadn’t told anyone about the baby, so they felt isolated and alone while weighing the decision. Anna eventually told her mother about the pregnancy. Her mother was ecstatic and looked forward to meeting her new grandbaby.
However, doubt crept into Anna’s mind. Every healthcare provider they met with made it seem like their baby would need so much care that it would diminish the family’s quality of life and negatively affect her older children. They began to “quietly contemplate abortion.”
The defining moment:
Late one night, Anna’s husband found a video of Ryan online. At the same time, he restlessly searched the internet for more information about the diagnosis. He emailed it to Anna, who was having difficulty sleeping, and said, “Everything is going to be ok.” Anna’s eyes filled with tears as she remembered how they began to pore over Living With XXY’s social media and took in the pictures of “regular boys with regular lives.” She said, “That was the defining moment for us, that we would do this. He would be perfect and loved.”
At 28 weeks, Anna and her husband finally shared their joyful news with the rest of the family, which the COVID-19 pandemic had made easy to hide. They chose not to share the baby’s diagnosis at the time because “As much as you try to inform people, the world goes to Google.” Additionally, they finally interacted with a provider that helped change the narrative for them.
Anna said, “While the pregnancy was a blur of emotions, I had a high-risk pregnancy followed by A Maternal Fetal Medicine doctor, which meant more appointments and ultrasounds. After an unexplained second-trimester loss the year before, I welcomed the additional observations. These appointments were overseen by a wonderful team of doctors who offered support for the diagnosis and even researched clinics and organizations that would be great to contact once Nathan was born. My third MFM visit was with a phenomenal doctor who took a more personal approach and offered words my heart longed to hear. While no mother wants to hear their unborn child have any diagnosis other than “perfect,” this doctor offered words that help me even today when I struggle with moments where I think about what the future may hold for Nathan. He said, “Of all things that could be ‘wrong,’ this is the one you want. Your boy will do just fine.” That first statement put it in perspective. An XXY diagnosis is not a death sentence, our boy would be perfect, and he truly is.”
Anna’s labor and delivery went fine. Their baby boy Nathan was perfectly healthy, with a great Apgar score. Her doctor seemed surprised at how “normal” Nathan was. Fortunately, he was supportive after the decision to go through with the pregnancy. Anna felt determined to show him “this child was going to be perfect the way he is.”
Living With XXY:
At the time of writing this, Anna and her husband had chosen to keep Nathan’s diagnosis to themselves. Ryan encouraged her to share the diagnosis with her mom, so Anna brought her into the fold. Anna felt “difficulty finding a balance, when to tell, who to tell because it’s his story, but he can’t speak for himself.” Anna has found herself at a crossroads when talking more publicly about Nathan’s diagnosis. She wants to advocate for Klinefelter syndrome but protect her son. Anna participates in forums and helps other mothers who have received a prenatal diagnosis of Klinefelter syndrome. Whenever she can, she directs them to Living With XXY. It lets her stay anonymous but allows her to advocate as well.
Of Nathan, Anna said he is two years old and “literally the perfect puzzle piece to our family.” While he struggled with torticollis and walking had some delays, Anna remained confident he would soon catch up. As he participates in speech and physical therapy, Anna could “see him getting things.” Anna doesn’t see these appointments as different needs but rather a “blessing” and an opportunity to spend one-on-one time with Nathan. She said if you didn’t know about the diagnosis, you’d never know anything was different about him. While getting him into early intervention programs in the state was a struggle, Anna persisted. His whole family believes Nathan and Anna teared up at considering terminating her pregnancy.
What she would tell others:
To providers sharing a diagnosis with parents, Anna wished they would take a warmer, more personal approach. She hoped someone had told her not to Google the diagnosis and instead made an emotional connection.
Anna said, “Find Ryan and Living with XXY for parents receiving a diagnosis. Connect with other mothers with young children. Please learn what this means, and understand that your child will be perfect the way they are. You may have your challenges, but you know what? Everybody has a challenge. Something is different about everyone. Some people find out about it; some people don’t find out about it. But honestly, find living with XXY, that’s the first thing I say. Because I remember that video that my husband found quite vividly, to see, ‘Hey, this human being is an adult, normal, and perfect.’
Anna felt it benefitted her to work with Living With XXY. Ryan connected her with other moms with XXY sons. She added, “Ryan is such a blessing to our family. He saved our child’s life. Ryan and you guys at XXY are a blessing. Please don’t stop.”