I wanted to write my story. My point of view of being a mom to a now toddler with Klinefelter Syndrome. The good and the bad so that those struggling may feel relief that they aren’t alone. They aren’t the “only ones” struggling, even if we think our kids are perfect the way they are.
I’ll start with the day I was told. I was at work, impatiently waiting for the phone call from my OB’s office for the result of the NIPT testing, finding out if our super rainbow was a girl or boy! Finally, they called, and I was told he was a boy, but I asked if they were sure because I was so sick and miserable I thought it was a girl. They assured me it was a boy, and after letting it sink in for a minute after I got off the phone, I was SO excited and wanted to tell everyone! However, not even 20 minutes later, my OB’s office called again. I thought it was weird but didn’t think much of it.
When I answered the phone, she said she was sorry but didn’t realize that something had come up on the testing and that he had a chromosome abnormality. My heart immediately sank, thinking the worst, especially after having multiple miscarriages. Then she said she wasn’t sure exactly what it was, but it’s called Klinefelter syndrome, and he has an extra x chromosome. He is XXY instead of XY. I was baffled and asked if that meant he was both girl and a boy… her honest answer was she didn’t know but would get us set up with someone who could answer these questions. After I hung up, I didn’t want to tell anybody anything. I felt sick and turned to google, which painted a very negative picture, BUT it was not life-threatening from my quick search, so that helped ease some of the anxiety.
So I texted my husband that I found out what it was, but there was a chromosome problem. I couldn’t tell him the chromosome problem until I told him the sex because Klinefelter syndrome only affects males. He wanted to find out girl or boy was at home before anything else. I went to the gift shop at work and got a baby boy picture album, and that’s how I told him later that night. Of course, right after that, I told him about Klinefelter Syndrome. To my surprise, it barely fazed him, and his excitement for our baby boy was unscathed.
On my end, however, I felt happy but also could not help but feel sad simultaneously. Many of the symptoms I was reading about are things that no man wants. It felt like many things that help define a man could be taken from him. I have PCOS and have many unwanted side effects that make me feel less of a woman, such as facial hair and lack of fertility. I know how hard that has been for me, and now my baby boy will also have the same (but opposite) problem throughout life.
My research began and didn’t cease. I joined every group I could find for kids with XXY and even some adult pages to see what they experience as adults. I read articles online, but they all seemed so hostile. The best thing I found was a Facebook page for parents with KS kids that has a lot of positive stories as kids grow up or other families just getting the diagnosis that has many of the same questions I did.
It made me feel like everything would be okay, and I realized it’s more of a spectrum. I got my hopes up that maybe he would be the one who doesn’t show any signs until adulthood or until fertility becomes a topic. In a way, I even put Klinefelter so far back into my mind for a good portion of my pregnancy that it was almost like I forgot or turned into denial. After all, nothing was certain until he could get blood tests done after birth since I declined an amniocentesis.
While I was being induced, my sister was also hospitalized. At the time, we didn’t know what was going on with her, but she didn’t look good, and my honest thought was she was on drugs after losing our brother two years earlier (just how she looked so sick made me wonder). Looking back, I feel bad that it even crossed my mind. I remember we were texting, comparing IVs and hospital gowns, not knowing my best day was about to be one of her worst.
Our boy’s induction only lasted four hours, and he came so soon that there was no doctor, and he was born in bed. He was undoubtedly in a hurry to come on out! Just as he does everything now, he was born on his own time in his way, even though everything was planned. He was a beautiful 6 lb 13 oz baby boy. To our surprise, he was and still is a redheaded little guy, which suits his personality perfectly!
The baby blues got me the first few weeks postpartum. I would sit and rock him, crying, thinking about how my mom lost her baby boy (he was 36) and how I was so afraid of that happening to me one day. It made me think of the anxiety, depression, and insecurity some of the XXY men have posted about, which gave me even more concern about his future, as these things already run in my family. I always wonder if he would be affected even more because of the KS in the future.
That worries me because I have witnessed the pain that can bring even in men who don’t have this condition. I wanted nothing more than to do everything in my power to give him the best possible life and for him to grow up knowing that everyone is different, and that’s okay. His differences won’t make him any less important than anyone else, no matter the outcome. Then that thought turned into, well, I can do my best at home, but I can’t control the world..which just snowballed into more and more anxiety about a future that may or may not happen.
A few weeks later, I was finally told that my sister had been diagnosed with cervical cancer while we were both in the hospital. Losing our brother was scary and filled my heart with so much more anxiety that it caused everything to be more difficult. I cried more and more about his future because I was scared about my siblings. So I dug deeper, found Dr. Sprouse, and sent her a Facebook message asking what we needed to do.
That’s when we made an appointment to go to Washington, D.C., to see Spouse’s group and started testosterone once a month x3 months. I was sure this would help prevent delays that can present with Klinefelter syndrome (mainly speech delays/low muscle tone). I felt confident that we were finding the right path and that everything would be as normal as possible from here on out. Around this time, months passed, and my sister eventually beat cancer. Everything started to calm, and my anxiety started to decrease.
We started physical therapy around four months of age to help prevent any low muscle problems that may pop up, but he hit all of his physical milestones pretty much right on time. However, we did see more meltdown issues, and he wouldn’t let us touch him, making PT more difficult. Therefore we decided to add OT to help with these angry outbursts and our inability to touch or calm him in these situations. We stopped physical therapy at 13 months because he was doing well. Unfortunately, the day before our son’s first birthday, my sister was diagnosed again with cancer. This time labeled as “terminal,” but the way we were told, we thought she still had years, and of course, you believe in the back of your mind that it’s not true. I thought she was young; she had beaten it before and could beat the odds again.
Around this time, I started to realize he still didn’t have any words and hardly babbled. Since he was still young, I wasn’t overly concerned- yet. But I did feel like we needed to get speech involved asap to help prevent him from falling behind. We got the ball rolling, and he started speech around 14-15 months old after being on a short waitlist.
Still no words. My frustration began to build since we had him in OT and speech already, but nothing had changed. My anxiety made higher and higher as my sister got sicker and sicker. This anxiety rolled back over to the speech delay and frustration stemming from that. Everything felt 100% out of my control while trying to do everything I could, but it still wasn’t helping. I was trying so hard to be a good mother while my heart was ripped out while slowly losing another sibling.
In May 2022, four months after the second diagnosis, my sister was suddenly put on hospice. We were able to spend the last two weeks by her side, caring for her. I spent a lot of time away from my son in those weeks, and when I was back, I put all my energy into finding solutions to help him.
It felt like I was being blamed for his speech delays. Being told I’m not animated enough or talkative enough. Being told by other people that maybe if he didn’t watch tv at all, he would be talking by now. I’m just trying to keep my head above the ocean of grief in front of me. Every appointment I took him to or every referral I asked for in one way or another seemed to be nitpicking on my personality, my grief, and that I was the cause of the delay. In reality, it isn’t/wasn’t my fault.
He was eventually labeled globally delayed around 20 months old when we took him for an autism screening, but still no words. No autism diagnosis, but also not ruled out. We will go back next year when he is a little more mature. They labeled his speech as being at the level of a 7-month-old, making me feel again like it was somehow my fault. He not only struggles with his lack of speech, but his receptive language also lacks significantly. Learning to mimic before words come is essential in the building blocks of communication. He also does not wave, hardly claps, and does not point to tell us what he wants at 22 months old. So now we have developmental therapy in addition to speech to help him learn to mimic more and help add those building blocks to communication.
We did, however, have a big breakthrough this month with him repeating the word “up” when we say it and starting to mimic play more and more. We are hoping with time, work, and therapy, he will continue to improve and eventually thrive. I’ve put some of the guilt that was forced on me away as I realized he would do things in his own time. We need to help him at his own pace along the way. We can’t speed up what’s not intended to happen, no matter how much we try. There isn’t anyone to blame. Every child is different, and he has proved over and over again that he is a spitfire that will do what he wants when he is ready on his own time.
I hope that anyone who feels like they are being blamed when they are doing everything in their power to help their child won’t carry the same guilt that I have. I hope someone reads this and realizes that just because you’ve struggled at some point doesn’t mean you love your son any less or you’re not doing good enough. We are all human. Give yourself grace as you search for the right path for your situation.