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An EXXtra Special Little Boy - An Expectant Mother's Tale of 47 XXY

Updated on May 6, 2011

It was a Friday afternoon at 4 pm about 7 and a half years ago that I experienced one of the worst calls an expectant mother can receive. The specialist told me the results of my amniocentesis were abnormal. She went on to say that my little boy had an extra chromosome, 47 XXY and that particular anomaly is called Klinefelter Syndrome. I’d never heard of it so I asked for an explanation, I needed to know what it really meant. The only information she could give me was that if I continued the pregnancy, my son would most likely be a lawbreaker or a troublemaker.

I did what any self respecting and hormonal pregnant woman would do at that news and cried uncontrollably, calling my best friend to bewail the prognosis. After my pity party, I put on my big girl panties and pulled myself together. I gave my husband the news and then got on the phone and the internet spending the entire weekend educating myself and my husband. I found phone numbers for specialists that had extensive experience with Klinefelter Syndrome (KS) boys. I left a message for my pediatrician who was wonderful and returned my call on a Saturday evening to tell me he treats one child that has the same thing and that he was perfectly normal in most ways. I found a man on the internet who also has KS and emailed him asking him asking a ton of questions. He was so kind and informative. He wrote me back very quickly with tons of information. Suddenly, it certainly seemed that the genetic counselor was mistaken.

I was very lucky, I managed to connect quickly with doctors that did research with 47XXY boys and not only were they well informed, but they took the time out of their busy schedule to talk to a panicked expectant mother. Sadly, many parents are not as fortunate and rely on well meaning but misguided advice from doctors that are only aware of old, outdated and invalid studies.

You’d think that the lack of information and deficiency of knowledge would mean that 47XXY was a very rare anomaly. Actually, it occurs in 1 in 500 to 1 in 1000 males born. That makes it one of the most common genetic irregularities. So why is it so unusual to hear about it? I learned that there are several reasons. First of all the only way to determine that a child is 47XXY is with a genetic test. 47XXY or Klinefelter Syndrome does not have obvious physical traits like Down syndrome so there is not a basis for most children to be tested for it. There are some slight physical characteristics that may be present for instance a curved little finger, or low muscle tone, but those are so subtle that many doctors do not pick up on that. A child may be suspected of being 47XXY if they are delayed enough in speech, reading, and writing. Language based disabilities including dyslexia and speech problems are very common . However, Klinefelter Syndrome is a spectrum disorder so while some boys may be affected severely, some are not affected at all. Often they are actually misdiagnosed as being autistic or ADD.

If a child is not identified early in their life, the next time they might be identified is when they are an adolescent if their puberty is delayed or they exhibit some of the symptoms like sparse facial hair, developing a “pear shape”, or even developing some breast tissue. However even at this point, many boys do not exhibit signs. Some men are diagnosed as adults. Normally a man with Klinefelter Syndrome is sterile, so sometimes it is found if they undergo fertility testing. Many men are never diagnosed at all. Another reason Klinefelter Syndrome is not talked about much is the stigma attached to it. Sadly, many people jump to conclusions and in their ignorance assume these wonderful little boys are destined to be gay, or even that they are hermaphrodites. This is so far from the truth, but it does make many people less likely to be open about it.

So what did all of this mean to me as an expectant mother? Well, my son had a higher chance of language based learning disabilities. To me that was a minor issue, my oldest child has some learning disabilities too. Any child has that risk. He might have some muscle tone problems or general delays. Again, that was not a big deal to me. He would most likely be sterile. That is sad to know about your child before he is ever born, but not something that has a huge impact either. I learned that KS babies are usually considered to be very quiet “good” babies. I discovered that they are often a bit more sensitive than “normal” boys and that physically he may be delayed or a bit awkward.

So, armed with a bit more knowledge now, my husband and I began to prepare for our eXXtra special boy. We had appointments lined up for him before he was born with specialists. We committed to doing the best we could for our son and learned what services were available. Now I do have to admit, even with all the reassurances we’d received and all our preparation, I was very relieved when he was born and I saw my beautiful little boy. My youngest child, Matthew is a gift in so many ways, I can’t imagine what we would have missed out on if we had listened to the first specialist that spoke with me and obviously felt that I should terminate my pregnancy. I am very grateful to the people that helped me to learn what to expect and how to best help my son.


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    • profile image

      my angel 

      6 years ago

      My little boy who will be turning 2 was also diagnosed with KF thru an amniocentesis. I will never forget that day I received the call that something was wrong with my little boy.. I had 2 toddler at the time as well. My OB gave me a brief description and then sent me to a specialist who only painted a poor picture of a boy that would look like a monkey and have several disabilities. Instead of educating me more he led us to believe abortion was the thing to do. We were very distraught and I spent days crying going back and forth on what to do. I knew we had little t ime to make the decision. I did more research on the internet and was amazed at what I read. I even found a gentlemen who has KF and he called me and provided me with great reassurance. I knew in my heart of hearts that I could not go thru an abortion.. This baby was mine and I would love him no matter what. My husband felt the same but some family members were concerned. Today, all I can say is I wish doctors would educate parents better on the condition and not always stress abortion as the best alternative. My little man is such a happy boy, full of energy and always following and learning from his brothers. I could not imagine my life without him and always thank God that I never made the decision that would never allow him into our lives. If you are that mother now and are faced with such a decision my advice would be to learn all you can about KF and follow your heart. My boy is perfectly healthy and happy as are we!

    • Lilleyth profile image

      Suzanne Sheffield 

      6 years ago from Mid-Atlantic

      Thank you for sharing this story. There are worse things. I actually refused amnio because I feared it would harm my child, which turned out to be twins, and, of course, the chances of one of them being damaged during the procedure was increased. I didn't care if there might be something wrong with my child. As it turned out my twins, a boy and girl, came after months on bed rest, and were perfectly healthy, and didn't require any extra hospital time. If anyone is not prepared to have an abortion, don't have amnio because, chances are, they will find something wrong. On the other hand, if someone is prepared to dispatch their child if he/she isn't perfect, remember that Karma is a bitch. Everything happens for a reason.

    • Karen Wilton profile image

      Karen Wilton 

      7 years ago from Australia

      Thank you so much for sharing your story. I know first hand what it is like to hear those words 'abnormal result' during a routine pregnancy test. How wonderful you continued with the pregnancy. Matthew is definitely a gift that could have easily been cast aside. I admire your courage.


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