At 11 weeks pregnant my doctor asked if I wanted NIPT (non-invasive prenatal testing). I had no clue what it could detect and was feeling scared but hopeful, so I anxiously agreed.

When we were going over the tests with our doctor told us that it was all suggestive that our son would be born with XXYY. The doctor said there was no way to receive a definitive diagnosis until after birth or trying an Amniocentesis. The feeling of wanting to know right then and there what our child was going to have was so great. At 20 weeks my husband and I went to see the genetic counselor who wanted us to do an amniocentesis. However, the risks were too risky and we decided to wait until he was born. Before receiving our results I had never heard of 48, XXYY.

Fast forward to two days before him being born, I received a phone call from my doctor telling me to go to the hospital to be induced, and after 48 hours of labor and little to no sleep, our miracle Weston Ridge Kary was born. I was in awe of myself and the precious bundle of joy that had arrived.

He entered this world not breathing, purple, and unresponsive to stimulating touch so they placed him on oxygen for approximately 10 minutes before letting me hold him. I was told that he had an extremely low Apgar score and would need monitoring for the rest of our stay. When they moved us to our recovery room he ended up having high Bilirubin levels and would need to be placed under 24-hour phototherapy to try and bring his levels to a spot where doctors felt safe sending him home. After a long and grueling three days, our baby boy was finally able to be discharged.

He is now 7 months old and we just received our diagnosis of 48 XXYY, a variation of Klinefelter Syndrome. Despite this diagnosis, he is so bright, funny, and loving, and will light up any room that he enters. We have not noticed any major delays with his motor or cognitive function. The things that we feel he struggles with are eating solids from a spoon and/or sitting up on his own.

He has given us so much hope for the future that no matter what obstacles he may face, we will challenge them head-on as a family with the intent to provide him with the utmost support and love.

We have been given the gift of the most kindness from this community letting us know that nothing can stop him and he WILL thrive in life. It is so comforting to know that there are other parents out there just like us. We may not know much, but we promise to learn and grow educated about Klinefelter Syndrome/ 48 XXYY so that if in the future another family receives this diagnosis, we can share with them everything that we have come to know and continue passing on the love for our little ones.