Running For A Reason: Diagnosis XYY

I have to back track for some of this to make sense, but let me start in the now and and then jump back: We found out, via getting his blood draw, that my adorable newborn son has a rare chromosome condition called 47,XYY. This is not life-threatening and may present very mild symptoms. I repeat: This is not life-threatening and may present very mild symptoms (I’ll explain).

Nonetheless, it is a rare chromosome condition. Unfortunately, there isn’t much research in The States about it, and that is why I am dedicating all of my training and running through the remainder of the year to The Focus Foundation: A charitable organization that is dedicated to support and awareness of X and Y chromosome variations.

It all began at 10 weeks gestation…

When I was pregnant last time, insurance wasn’t covering the non-invasive prenatal test (NIPT) unless mom-to-be was high risk. In my late 20s and healthy without any genetic issues in my family history, I obviously didn’t qualify to get the test.

What is an NIPT? It’s a free cell DNA test that can be drawn as early as ten weeks gestation. Essentially, your baby’s DNA is floating around your bloodstream, and the test analyzes it for three common and potentially debilitating chromosome conditions: Trisomy 21 (Down Syndrome), Trisomy 18, and Trisomy 13.

So, what is the draw of the test when you’re a healthy, young woman with no history of abnormalities? You can also find out your baby’s sex. Now, insurance covers it for just about anyone, including me.

My husband and I decided against the NIPT. We said early on that we would go forward with the pregnancy regardless of what conditions were present, so we didn’t want to have the test. And in typical Courtney fashion…I got the damn test drawn.

I downloaded the Quest Diagnostics app and frantically checked over and over for my results. I was so excited to find out the baby’s sex so early in the pregnancy! Over a week passed and it still said “pending.”

Monday morning, about ten days after the test, I was showering and thinking about what I would do to reveal the sex of the little one on the way. My phone rang (yes, I keep my phone in the shower…sue me. I use a LifeProof case), and it was my doctor’s office.

“You need to come in today as soon as possible to discuss the results of your NIPT,” said the nurse.

Ok. My OB is an extremely busy physician who only works two days a week in that office. For her to drop everything on a Monday and ask me to come in immediately? I knew something was up.

“What are the results? What’s wrong?” I asked. I could tell my eyes were foggy not because of the steam from the shower, but because I was probably a good 50 seconds into holding my breath without even realizing it.

“The sex chromosomes are XYY rather than XY.”

Well gee – that explained a lot (sarcasm). I’m not a geneticist. I had no idea what that meant. Finally, they put my doctor on the phone.

“No no, it isn’t something fatal or anything,” she said. But she didn’t have much more information than that at the time.

In comes Google: 47,XYY. The male has an extra Y chromosome. Jacobs Syndrome. Increased risk for learning delays in speech. Delayed motor skills. Higher risk for autism spectrum disorder. Acne as a teenager. Tall in stature. Tremors. Barely any risk of infertility. Some goofy thing about increased aggression that was apparently disproved.

I felt alone; I felt scared; I felt like mama bear times 59743. I was about to be the mom of a child who has a rare chromosome disorder that effects 1/1000 boys. I woke my husband up and told him, and he thought the extra Y meant twins (he was half asleep). I bought a pack of cupcakes with blue icing in the middle and cried on the phone when I ordered them.

My doctor gave me information from a medical journal and that helped more than message boards. I also joined a couple of support groups on Facebook. I still felt pretty uninformed and kind of afraid.

When I attended genetic counseling, they said there was only a 25% chance that the test was actually right.

Now, I was even more confused. I refused amnio and other tests because it didn’t matter to me enough to risk a miscarriage.

***

The day Michael was born, I didn’t think about the XYY. The doctors did, though. They drew his blood to check his chromosomes, and when I went to his pediatrician for a check up just four days after he was born, the blood test confirmed that the odds of that test weren’t in my favor: He has the extra Y.

By now you are probably wondering what 47,XYY is. It is a condition that effects 1/1000 males. Only 15% of males are diagnosed. Why? Because usually, the symptoms aren’t severe enough to cause parents to consider their child anything other than “a handful” or “a little different.”

Boys with XYY may experience all or hardly any of the following:

  • Tall, very tall (which is funny, considering I am 5 feet exactly)
  • Increased acne during teenage years
  • Trouble concentrating and increased temper tantrums
  • Delayed speech
  • Delayed motor skill development
  • Poor muscle tone
  • Increased risk of autism spectrum disorder

Now you can probably see why boys aren’t usually diagnosed with XYY, right? Thankfully, there aren’t any physical markers (what teenager doesn’t have skin issues? Also, most boys are tall). The learning delays could happen to any child.

But being armed with knowledge about the XYY condition can help you plan to help your son meet or surpass his goals and to thrive mentally, physically and emotionally.

I don’t know what the future holds for Michael. So far, he can nearly hold his head up and almost rolled over from his back at just five weeks, and his grip is insane – so it seems like his muscles are top notch. He also turns toward me when he hears my voice, so he’s making connections. He does get the tremors in his right leg (they’re random), but those may go away).

I found most of this information on my own, and that shouldn’t happen. That’s why I have decided to fundraise for The Focus Foundation, a charity dedicated to X and Y variations. All of my postpartum running from now through the rest of 2018 will be dedicated to raising money that spreads valid information and awareness about conditions like 47,XYY.

If you want to help me with this cause, you can visit my Crowd Rise page. All of the funds donated through my page goes directly to The Focus Foundation.

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