How did we miss this? One family looks back at the “soft signs” of XXY that were overlooked in early childhood.
This article was written by a Mother for Living with XXY. These are her words. We found out about my son’s Klinefelter’s diagnosis when he was 9 ½ years old. We got the results of the genetic tests on a Thursday afternoon. The genetic counselor wasn’t available to talk with us until Tuesday. That was just enough time to fall into a scary Google Abyss full of misleading and outdated information. Google had very little of it about children with XXY. How I wish we had been referred directly to the genetic.org website on that very first day! I hope that in sharing our story, others might recognize how easy it is for Klinefelter’s to be hidden in plain sight. Maybe someone will even recognize their own child’s story in my words below. Keeping in mind that there is a wide spectrum, so symptoms can vary from person to person.
I remember an Occupational Therapist asking us if we had considered genetic testing when my son was about 2 years old. I ran into her recently and brought her up to date. She said that she had suspected Klinefelter’s, but she’s never quite sure if it’s her place to make that suggestion to parents. As for me, at the time, I remember thinking that our insurance wouldn’t cover such a test and that the odds would be so slim of finding anything anyway. Turns out the odds are about 1 in 400! I recall looking into Klinefelter’s, but the only information I found pertained to adults. I found nothing about the soft signs of it in early childhood. So while I want to highlight some of the challenges he’s faced that were unknowingly attributable to being XXY, I also want to emphasize that our son has lived a very normal and fulfilling life, despite being XXY. The more I learned about XXY, the more I was baffled by how he could slip under the radar for so long. Many of the “soft signs” were right there in front of us the whole time, but no one connected the dots. Over the years I mentioned my concerns to our pediatrician. But he always had some other excuse such as “Boys just hit the milestones a little bit later….he’ll catch up.” And he always did catch up, but my gut feeling – the feeling that something wasn’t quite right – never went away either. Lineagen is a program that provides sliding-scale genetic testing. Our neurologist participated in this program. In the end, we only had to pay $250 out of pocket, based on our income. It’s a $7000 test! Click here Website
So what were some of the “soft signs” that we witnessed from infancy to age nine?
My son was a very “quiet” baby, even in utero. Gosh, he was so sweet! He wasn’t as active as his older sisters. This was true before he was born and to the present. He has always fatigued easily and has had low energy. When he was newborn he was sleepy all the time, and he struggled to learn how to breastfeed. He would try to latch on, but then just give up and fall asleep. We struggled for the first 6 weeks; he was my 3rd child, and I *knew* how breastfeeding was supposed to work. I tried everything, and I felt like a failure because he wasn’t “getting it.” It was a downward spiral because he wasn’t demanding enough milk and in turn, my milk production slowed down. I reached my limit one night and took him to Urgent Care. The nurses gave him a bottle and he perked right up. They told me he was fine, that he was just hungry. Taking a bottle was much less complicated than the complex process of using the mouth and tongue to feed at the breast. (We now know that this is true for some babies with XXY). I decided to stop breastfeeding. The next day something just “clicked” and he nursed until he was 18 months old. They say that boys with XXY sometimes just take a little longer to catch up. This was the first of many instances where we found this to be true. Had we known he was XXY, I believe that the lactation nurses would have taken my concerns more seriously. When he was about 10 months old, he still needed a boppy pillow around him while seated because he would fall backward & hit his head on the floor. Low tone. Again, it was normal, said the doctor…. As a baby & toddler, my son wouldn’t always look you in the eye; he would gaze off to the side. He had a flat affect, too, and he didn’t get excited about much.My husband affectionately called him our “stone-faced boy.” We’ve learned that some boys with XXY also have autism, Aspergers, and/or ADHD. Extensive testing has ruled out all these conditions for my son. But his behavior was quirky enough at times to make you wonder. Yet these traits are all folded into his personality, and what makes him so calm and steady. When he was 12 months old, he had a regression in speech. It was strange–he acquired 5-10 recognizable words, and just lost them and said nothing for over six months. I told his doctor, who said it’s just because he’s a boy and that his sisters do all the talking for him. Right. We also have a family history of speech delays – with kids on both sides of the family who took longer to talk, so we thought it probably had something to do with his genes. Well, it had everything to do with genes but not in the way we thought! He walked at 15 months, which is on the later side of normal, and not a big cause for concern. Another 3 months went by and he still didn’t babble and use words as he should have. I then reached out to Early Intervention. The therapists there realized right away that he needed speech and occupational therapy.
He continued with that until he turned 3, and we started him in preschool with a Speech IEP. His receptive language was always very good – he understood what was being said to him, and he would gesture and use sign language to get his point across. He just had a hard time getting the words to come out of his mouth. We used to say he had a “log jam” between his brain and his mouth, and for a while, we thought he had Apraxia of Speech. When he was 5 he had a mouthful of cavities. He had to have dental surgery to put metal caps on his molars. Taurodontism can be a hallmark of XXY, too. He has thin enamel and short roots. But still, no one made the connection between being a boy with a speech delay, low tone, low energy, bad teeth, and Klinefelter’s. I thought it was our fault for not taking better care of his teeth.My son has never had a big desire to play sports, but he did try soccer for a while. He didn’t move fluidly like the other boys; while the others reacted by just kicking the ball, my son looked like he was planning all his moves, step by step. We would wonder why he was so worn out at the end of the game. He also has had trouble with balance and weak core muscles. So things like skiing and riding a bike have taken a little more effort to learn. By the end of 3rd grade, his speech had improved enough to exit him from his Speech IEP. Yay! I had mixed feelings about letting go of the IEP. No longer needing speech therapy was a cause for celebration. I had been noticing how common it was for him to struggle to find simple words when he needed them, and so he would “talk around” things. He once said to me, “Hey Mom, you know when we eat in the morning, and we have cereal, what’s that thing called again?” I said, “Do you mean ‘breakfast’?” “Yeah, that’s it. Breakfast…” We asked the school psychologist to do some additional testing, and we discovered a hard to explain the gap between his IQ – he’s very bright – and his lower than average ability to access and recall words. Later we learned that guys with XXY can have problems with short term memory and the ability to word-find. This is one of the traits that we witnessed almost every day of his life. And no professional in any field could explain to us at the time.
So what’s the takeaway lesson here about soft signs of xxy?
There were so many missed opportunities for diagnosis that went unrecognized by various professionals: our pediatrician, speech therapists, occupational therapists, lactation consultants, the school psychologist, teachers, and even his dentist. This highlights the need for increased awareness and screening. In reality, we did everything we could without a diagnosis that we would’ve done with a diagnosis. He’s mostly just a regular kid with a few quirks here and there; it’s not surprising that 70% of males with XXY go undiagnosed. Here are some ways to give to help increase awareness. But finding out about his actual genetic condition was a game-changer. It affirmed our suspicions that something was going on underneath the challenges he faced. Having a diagnosis has made it much easier to get a 504 Plan into place at school. We can secure an IEP in the future if we need it. It has paved the way for a smoother transition through puberty and transition to adulthood. We now know that healthy eating, good oral hygiene, and exercise are all the more essential for him to maintain his energy, mood, and overall well-being. Most importantly, we are closely monitoring his hormone levels so that he can get the right amount of Testosterone his body needs when the time comes, and thereby helping him grow into the best version of himself. It would be unfair to my son to only point out the challenges he’s faced. Overall, being XXY is just a small slice of his life and it doesn’t define who he is. He laughs easily, he’s thoughtful, sensitive, insightful and gentle. He’s devouring all the Rick Riordan books, he can speak, read and write in both English and Spanish. He’s super creative with Legos, he loves Nerf gun battles, he’s good at math. He works hard around the house, and he loves to annoy his sisters. We consider ourselves so very lucky that we stumbled across a neurologist. He stepped outside the box, finally took us seriously, and offered affordable genetic testing. Now we are aware of his XXY. The future is even brighter because we can fill in all the gaps. Knowledge is power!Other Valuable Resources