Klinefelter's syndrome

Klinefelter’s Syndrome Story

Klinefelter’s syndrome story

This story was written by a loving mother of a Klinefelter’s syndrome boy.   More Info

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 myself had several test 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 was going to 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 go fund me pages. We were about 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 little 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 of the 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 were going to 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 doctors appointment the next day with Chases 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 and 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! Never ever cried or fussed. 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 check ups 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 good 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 Chases 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

Our Positive Traits

If you would like to share your own story or your children’s story about being diagnosed with an X and Y variation please email Info@livingwithxxy.com . We want to hear and share your story with the world.  

31 thoughts on “Klinefelter’s Syndrome Story

  1. What a beautiful story about your baby Chase. Thank you for sharing.
    My name is Mark and I have XXY. I am 60 years old. In the 1950’s there was no way of knowing I would have Klinefelters Syndrome. I didnt find out until I was 17. I remember being very shy when I was small. I went to a Catholic school and the nuns taught us. I had the hardest time with math and doing math problems. I had a hard time reading novels. I like picture books better. Gym forget it. I hated sports. I had no muscle tone.
    I did very well in the sciences. I went to college and did very well in ornamental horticulture. I really loved gardening. I should mention I am gay and figured that out in my 20’s. I have a husband and we have been together 29 years. We have a successful gift shop and art gallery in Provincetown MA.

  2. Amazing! I too had a boy last year with Klinefelters and the only thing different between him and his sibilings is he well behaved and they are not. Lol. He is taking longer to walk but it’s a scale with kids klinefleters or not. He’s my surprise miracle baby and perfect in every way. Ryan’s page brought me a lot of piece because somethings on the internet are scary. I’m sure this little boy will continue to do amazing things on his on schedule.

  3. All of these stories are so empowering to this community. My son was not diagnosed until age 17 and had zero physical/developmental symptoms! Always hit every milestone right on time. The doctors really have so little and very inaccurate data. I love that Ryan is spear heading this campaign!!!! Thank you!!! Holly

  4. Thank you for sharing. He’s so perfect and beautiful! I am 22 weeks pregnant and have been told my baby may have kleinfeltzer’s syndrome. Reading articles like this gives us so much hope.

      1. I am 12 weeks and just got my test back . They said he has the extra x and it scared me so bad . Now reading this i feel better .

  5. He is gorgeous 🙂 my youngest has Klinefelter (he’s just 6 months) and is the most amazingly chilled and happy baby! He seems to have low muscle tone as well which will get checked in a few weeks but he’s so incredibly perfect it never worries us

    1. My Master 3 has Klinefelters, I picked it up when he was one day old. His eyes looked different.As a baby he was very chilled. He is being monitored at the moment. He has weak tone, so things like crawling, walking were challenging,his centre gave me guidance so we could work on. His speech is not great but improving all the time. We were told he might be further behind typical kids but actually he is right where he should cognitively he is grand. If in doubt, trust yourself and question as much as possible

  6. My son has 47xxy & is 15 now we live on the west coast & found no one that was helpful/knowledge about KS until I found Dr. Carole Sprouse of The Focus Foundation in Baltimore. If our son had seen Dr. Sprouse as a toddler he would have had live a lot easier! But at 15 and having seen Dr. Sprouse for the last 3 yrs. he is doing absolutely amazing in so many areas of live!! All our boys deserve the best because they are turely amazing & wonderful people!! -A proud 47xxy mom

    1. My son is also an XXY-15-year-old boy and it wasn’t until he was 13 that we found a specialist to treat him in NYC. I did have testing when I was pregnant and knew he was XXY. He was a good and beautiful baby. No speech or delay in walking when he was a toddler. He does struggle in school but we get him extra help. We just recently had a procedure to retrieve sperm tissue and freeze it. I appreciate all of the positive and hopefully responses on this BLOG…Many articles are very depressing…Thank you, everyone, for sharing!

  7. What a beautiful story, thanks for sharing and congratulations on your miracle baby! Hope all goes well during the next visit!

    I know there are so many articles and information out there that mentions individuals with XXY are socially awkward and I have to agree with a lot of the people here that say that all of the information that is provided out there isn’t correct.

    My husband has XXY- we just found out a year ago, so he grew up his whole life without the knowledge of having it. He is the most outgoing guy you will ever meet in your life- he is fearless and not socially awkward at all. Recently he took a personality test and the results said he is actually 100% extrovert. I share that to say, the label that someone with XXY may be socially awkward is just not true (from my experience). Hope this info breaks that stigma!

    1. hello my husband also has XXY he grew up knowing about his condition (i’m pretty sure he found out when he was 10) he started out taking shots and then switched over to testosterone patches. he played sports and grew up very normal with lots of friends. The biggest problem we are dealing with now is struggling to conceive. wondering if you and your husband were ever able to?

  8. Thank you so much for sharing. I have two teenage boys. My 15 year old son was diagnosed with Klinefelters three years ago. He met every developmental milestone, he just struggled academically. In 7th grade his grades dropped dramatically (when he started puberty). He attends a small, private school and we had been told his comprehension was low but he didn’t have any learning disabilities. We thought he was depressed and “not trying”. We sent him to an Outward bound type school to get help where they diagnosed him as being on the autism spectrum. When he returned, several months later, his pediatrician felt his gonads might not be developing normally and sent us to a specialist who diagnosed Klinefelters. We saw Dr. Carol Samango Sprouse that summer afterwards and I started learning all I could about the condition. My son is making high C’s in his school (which is academically challenging but doesn’t offer special services), Is a starter on the JV basketball team, loves listening to rap and is a great kid. You are lucky to have found out early. I wish we would have. We would have started earlier interventions and also would have been much more understanding of his differences. If you met him, you wouldn’t know there was anything different about him which led to confusion since we kept having doctors say he was just ADD and unfocused before his diagnosis. Some of the information out there was so scary. I just want parents to know the more educated you become and the earlier you are able to help them understand their condition, the better. Personally, the biggest challenge for him has been academics and his self esteem because of the struggle. I am so glad Ryan and others are speaking out about Klinefelters and their stories Congratulations on your precious baby Chase. Wishing you the best on your parenting journey. BTW-a good friend’s brother has the condition. He is a high school teacher who has completed his doctorate. It just took him a little longer??

  9. My husband and I just found out he has an extra X chromosome. Unfortunately we are having trouble to conceive due to that. We where told if it was detected sooner at a younger age they could of done something but now it’s too late. I would recommend any one who has kids to get more information and give that information to them before it’s too late.

    1. Hi Say,

      My husband was just detected also. There is a procedure that is recommended if he is under 35, so there may still be hope! My husband and I are scheduled to go through it late next month. It’s called Micro Tese joined with an ICSI IVF at the same time (you and your husband would be going through the procedure at the same time). If you would like more info please reach out!

  10. I just found out 4 days ago that I have KS. My wife and I had been try to get pregnant and has discovered that I was infertil. After a few more specialised sperm tests, 3 sperms were detected, so now we have a 90% chance of having our own baby. So far the happiest day of my life ?

    1. Please explain how did u manage to get 3 on your own.. thats an awesome thing! Please explain everything you did to get there..

  11. Hello. I live in Italy and have a 2 years old beautifull klinefelter boy. We found out when I was pregnant but although scared at the beginning due to all the negative information we found on line never had a doubt and strongly wanted him in our family we were also helped by an amazing group that I found here in Italy created by Gennaro and Lucio 2 XXy amazing wonderfull men. My son was born so peacefull he is so beautifull and sweet and allready so attentive to others And so loving and respectful. He sTarted to walk at 11 months and is very curious boy…he is having a bit of a struggle with his speech but progressing everyday….sometimes I have the feeling thatt together with the mild complications that it may cause this syndromes gives a higher gear to the ones who have it in terms of empathy kindness charm sensitivity beauty and intelligence…..sorry for my English? bye bye to everyone

  12. Thankyou for all your thoughts and comments my husband has Klinefelters syndrome and just celebrated his 66 th birthday, fortunately we found out early in our marriage that he was infertile and so 25 yrs later not having children has never really been an issue especially seeing as I work full-time as a professional nanny in people’s homes. My husband does feel like he lives with a woman inside of him and I do sometimes feel like there is three in our marriage ( as Princess Diana famously said many years ago). But the poor guy also at times feels hopelessly out numbered because with my two X’s and his two X’s the poor Y in our relationship feels terribly alone at times. It has been important for my husband to accept the feminine side of who he is and for me as a woman not to feel threatened by her. After all genetically in a strange way anyone who is xxy is actually fully male and fully woman but intertwined in some strange way. We have been together a total of 35 yrs and both being Christians has helped to realise that someone who is xxy has been uniquely and awesomely designed by God for it is not inherited. I feel very sad that doctors offer parents the termination option when discovered in early pregnancy which is completely unneccessary for xxy men has considerations to consider but no issues that warrent a termination. Psalm 139:14 ‘ I will praise you , for I am fearfully and wonderfully made; Marvellous are your works, And that my soul knows very well.’

  13. I have 18 months baby boy with KS(XXY). We already knew it from the start and tried our best to perform early intervention. He met all the milestones except speech. At 18 months he only can say 1 word consistently which is ‘nak’ means ‘want’ in english. Other than that he could say ‘mamama’, ‘momom’ and his own name but only once a while. Other info, he started to walk at 13 months. We are very worried if he couldnt catch up to his peers.

    1. My husband has this and is 41 he always struggled with speech but EI was not a thing nor was he diagnosed until he was 30 years old. He still has speech issues (can’t pronounce say certain names correctly) but once I knew I started correcting him and basically became his speech pathologist, and will make him say it until he is correct and it truly has helped him tremendously. I think if he had gotten the proper attention needed as a child he would have had no issues as an adult.

  14. Hi Julianna, I am 13 weeks and got this news too. I have been on a rollercoaster ride. I am conflicted. I do not know if I should get the amnio, are you? What percentage that they giev you that you might be having a child with Klinefelter?

  15. My heart needed this! I am 19 weeks pregnant and just got the cell free dna results from my doctor. He didn’t give me much info, just XXY and that I needed to see a high risk maternity specialist and geneticist. I was scared out of my mind! Reading your story and seeing those adorable chunky cheeks has me feeling MUCH better about my appointment next week. Thank you so much for sharing!

  16. Just wanted to share my Klinefelter experience. My husband was diagnosed about 10 years ago in his early 30’s while we were trying to conceive. When he was diagnosed it did answer a lot of my husbands issues and insecurities from growing up. These were very minor common child and adolescent issues that anyone could have!! I would say only positive things about my husband having Klinefelters he is more sensitive and caring than any husband I have ever met! The only negative is that he is so amazing it’s just so sad that he is robbed of being a biological father. Luckily I had twin boys from a previous relationship that he has fathered since they were two. We still keep trying for our miracle baby after meeting with many specialists who told us there is always a chance!!!

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