Klinefelter’s syndrome story

A loving mother wrote this story of a Klinefelter’s syndrome boy.

Klinefelter's syndrome

Two years after our marriage, my husband and I started trying for a baby. We knew it could take a little bit trying to conceive, so we were patient. But after a year with no success, we went to see a fertility specialist.

My husband, Ryan, and I had several tests run on both of us to determine why we could not conceive. Every test came back the same- normal. Doctors couldn’t find anything wrong. They determined we had unexplained infertility and recommended we try in vitro.  They said we only had a 2% chance of conceiving on our own. The procedure would cost upwards of $20,000—money which we didn’t have to spend on something that wasn’t even guaranteed to work.

So we turned to adoption. We started fundraising-selling shirts, golf scrambles, and fund me pages. We were about to have way through the process when you guessed it; we found out we were pregnant.

We had never been so happy/shocked in our lives.

Waiting till 8 weeks to see our baby on the first ultrasound seemed like it took forever to get here. Finally- a heartbeat was detected. We were actually going to have a baby! Our doctor offered us genetic testing at just ten weeks. She also said we could find out the gender at this time. We were so excited! We couldn’t wait to hear the gender. We weren’t really concerned about anything else. Even if the baby had something serious, we knew we would continue with the pregnancy. Finally, after two weeks of getting the blood test, our doctor called with the results. She first asked if we wanted to know the gender. Omg, it’s a boy!

We had always talked about having a baby boy named Chase. We were so elated! But the doctor said there was one more thing she needed to tell us.

She said: Your son has an extra X chromosome. We had no idea what that meant or if our baby was going to be okay. I immediately started crying and shaking from fear.

How could we have tried for so long to conceive to find out something isn’t perfect with our baby. She explained he has Klinefelter’s syndrome. She went over some symptoms such as low muscle tone, slow learner, socially awkward, delayed/no puberty, tall, sterile. I relaxed a little bit- I could deal with this. Just because my baby may need a little extra assistance in school or not grow up to be a bodybuilder doesn’t mean he wasn’t still perfect! But wait- she said sterile. My husband and I got to thinking… it took us (two healthy young adults) 2 years to get pregnant. Ryan has little to no body hair; he is 6’3 and has a few other symptoms he wouldn’t want me to mention.

Does Ryan have Klinefelter’s syndrome and passed it down to Chase? We started researching, learning Klinefelter’s syndrome is not hereditary. So here we were, not knowing much about Klinefelter’s syndrome, and our doctor asked if we wanted to have an amniocentesis performed to confirm. We decided not to because it wouldn’t change anything.

All through my pregnancy, my family and I research Klinefelter’s syndrome. Reading the same things over and over, but we were never really concerned with it. We knew our baby would be born and just be a little extra special.

May 11, 2018- our 9 lb 3 oz, 19.5 in long baby, was delivered via c section. He was the most beautiful thing I had ever seen- gorgeous complexion, head full of hair, and some big OL chunky cheeks. He was perfect. The doctor told us they would send off some cord blood to verify he had Klinefelter’s syndrome. Somewhere along the way- someone forgot to get the cord blood. So the next day- they took our 1-day old baby away to put in an IV to draw blood. We then found out a nurse put the blood in the wrong vile. They took Chase away again to get more blood. They told me they had to stick him 3 different times, including once in his head, to get the blood needed. I was furious!

Is this what Klinefelter’s syndrome was going to be- constant pain to my child? Never ending test?

After three days, we went home and settled in. We went to our first doctor’s appointment the next day with Chase’s pediatrician. His doctor confirmed he did have Klinefelter’s syndrome. She told us some early symptoms to look out for and referred us to see a geneticist. We called to set an appointment, but they were booked out until July 2019. So at this point, we were told there was not really anything else to do.

We loved, cuddled, sang to, rocked, and played with our precious Chase. He was just the best baby! I never cried or fussed. I was a 12-hour sleeper at a month old. We got/get so many compliments for how well behaved he is all the time. Chase continued his checkups with his pediatrician.

Everything looked good. He was in the 99+ percentile for height, 96th in weight and 98th for head size. 

Everything checked out well until his last 6-month appointment. The doctor asked if he could sit up on his own or put pressure on his legs- which he could not. She pressed firmly against his feet, and Chase didn’t try to resist. She stated he definitely has low muscle tone, and she recommends seeing a specialist to get ahead of the game.

We took him to the specialist, who had us fill out a ton of paperwork about him. She calculated the results and said Chase would need a more specific evaluation. Chase is almost 8 months old and will be getting evaluated this upcoming Wednesday. We will work up a plan with the specialist to get a head start on Chase’s muscle tone. At this point, Chase can sit up by himself and will put a small amount of pressure on his legs- but has no interest in trying to stand.

My baby may have Klinefelter’s syndrome, but it doesn’t define who he is. I know there will be lots of obstacles along our Klinefelter syndrome journey, but we are prepared to do whatever it takes to make sure Chase is happy and healthy!

Loving Mother

Children’s Hospital Colorado-Clinic

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