My husband and I got married a few years ago. I was 34 and he was 44. We dated for 4 years and I was super keen on trying for a baby by then as I knew it was time. I got pregnant after a few months of trying and did not have much morning sickness.
During one of my early appointment, my doctor drew some blood to do the prenatal testing. We were away in Colorado when I got the phone call from the doctor saying everything looked fine with baby! I drew a big sigh of relief as I was conscious that my age was already a little advanced compared to some. During our next doctor’s appointment for a scan, my husband came with me and the doctor came to let us know she hadn’t picked up on an abnormality. The baby had Klinefelter syndrome and an extra chromosome. What did it all mean? She quickly went on saying “mental retardation, severe delays in development… but she could help me have and XXY abortion without any difficulty”. We left the hospital in shock. In the front doors of the hospital, we started googling XXY and Klinefelter only to see some terrible descriptions and images of what our son would look like. I’ll always remember my husband saying “baby, if this is how he’s going to be, then we can’t bring him into this world. We just have to end it”.
Cries and cries followed at home, and I booked an amniocentesis to double check for Klinefelter syndrome and cried so hard during the amnio. They confirmed the diagnosis. I went ahead and booked an XXY abortion with the hospital, along with an appointment with a geneticist. My husband was traveling and my best friend came with me to the geneticist. This wonderful doctor welcomed me and took an hour to tell me what XXY was, and what it meant as a spectrum. A few days later I canceled the XXY abortion. Deep down, I always knew I could not terminate my baby. I loved him too much already.
That summer, the geneticist contacted me about meeting another boy who was 7 and had xxy. We joyfully agreed and were so happy to see the sweetest little boy in that office. For some reason, I had yet to wrap my head that my son was going to be just fine.
When he was born, I was the proudest of mothers. He latched on to breastfeed without little difficulties and was the most adorable boy. By 1 year of age, we noticed he was pretty quiet and I was able to get him Early Intervention services after some fight and several evaluations. He’s been having Physical therapy, Occupational Therapy and had 2 years of Speech therapies which were recently ended given his proficiency with language. He is now 3 years old. He runs, jumps, loves to act like Spiderman, is a great talker, understands French and Spanish, has many friends and is super social. He talks to anyone he sees and does gymnastics and soccer outside school. I would not change an ounce of him. He is just perfect. Written by a Loving Mother. Thank you for allowing me to share my story.
This is beautiful! Tears ran down my face reading this. We are awaiting our XXY bundle in the next coming weeks. Your story brought me back to those early days where doom and gloom were presented to us. With two older children, we struggled with what this would all mean for our family. It wasn’t until we found the Living with XXY community and Ryan connected us with other fellow moms who recently were in our shoes, did we realize it would all be okay. My husband and I agreed, our son would be perfectly perfect and we would emberace him and love him uncondtitionally as we do our other two. Thank you for this beautiful reminder.
Congratulations. I just want to share that my son was diagnosed prenatally via amnio testing in 2002. Sadly, the ignorant geneticist during the beginning of our pregnancy recommended termination. Luckily we went for a 2nd opinion and realized that Klinefelters Syndrome is manageable and it is not the gloom and doom outlined by the 1st terrible geneticist who said he would be mentally retarded. With the prenatal diagnosis we were able to get Early Intervention at 10 months of age to help with the low muscle tone provide the necessary intervention. He started school with an IEP and then changed to a 504 Plan. Knowledge is power and knowing the KS diagnosis ahead of time is a blessing since you can read up on KS and be the best advocate for your child. We are blessed to have our wonderful son who just tuned 18 and is kind, sweet, smart and handsome! KS is the most common chromosome disorder in males and occurs in 1 in 500 males but only 10% of cases are indentified in childhood. Best of luck and congratulations with your Xtra special baby!💖