We lived in blissful unawareness until our son was almost 20 in the fall of 2018 and the doctor told us Ethan may have Klinefelter syndrome.
We had absolutely no idea that his learning difficulties, his stature, and thin physique were indicative of XXY. Ethan had annual physical checkups, and other than a little speech therapy for some slushiness and some reading difficulties, he was a solid B/C+ student. Ethan was a very happy kid, though a bit on the quiet side. He really lived for playing sports, being outdoors, and building with his Legos.
Our journey to diagnosis began when Ethan told us he was graying out a bit every time he stood up. We thought it was a circulation issue. So, we made an appointment with my internist. We were taken aback as our doctor mentioned Marfans and Klinefelter’s, among other possible diagnoses. He recommended we see an endocrinologist. He ran a slew of tests including a DNA one to check for Klinefelter’s. Needless to say, we immediately Googled it and were appalled by what we read. This isn’t our kid.
Then I got the call at work, “Your son has Klinefelter’s Syndrome.” I have to admit, I think I preferred blissful unawareness. This diagnosis broke our hearts for Ethan. It gave us a reason for his learning difficulties, but the sterility was the most heartbreaking as Ethan thought no young lady would want to marry him now.
As for school, he just takes 12 hours so as not to be overwhelmed. His first semester away from home was difficult. He had his first anxiety attack. We immediately talked about how to best cope with these attacks. He now takes ashwagandha and it helps immensely. It was so hard to be so far away when he needed us most.
The huge blessing in our journey was discovering Ryan’s YouTube videos. What a lifesaver! We binged watched every video Ryan made. He was calm in the midst of our storm of trying to figure this all out. We simply cannot thank the Living With XXY community enough for helping us understand this diagnosis and for the hope you all provide.
My life after Klinefelter syndrome diagnosis:
This is my version of how I digested the news that I had 47 XXY (Klinefelter syndrome) or what I like to call KS.
When I found out about my KS, it took me a while to react to the news. When I heard it from my parents my only thought was “I knew something was different about me and now I know,” but I had no idea how it would change the way I saw myself and others around me. I was 19 years old, almost 20 when I found out. For the most part, I thought I was “normal,” and with the recent news that seemed to shatter that view I had. I will admit the sudden change of view was a struggle as my emotions, affected by KS, got the better of me and I became quite depressed. After fighting with myself trying to be ok with my new view of me I finally was able to come to terms with my diagnosis after four months. Yes, it takes me a while to adjust to anything new in my life whether it be a new change in scenery like going on a vacation or even rearranging my room. Things like that can have a huge impact on how I feel. Giving me a heads-up days in advance helps me to prepare mentally and emotionally for the change.
Now, I am 21 years old and comfortable with knowing that I have KS. I realized even with all the challenges that come along with the syndrome I am a much stronger person than what I would call being “normal”. KS may seem to have a lot of scary implications, but I always tell my parents I would not change anything about my life if I had the chance to. If I did change, I would not have the killer work ethic and desire to be something better than myself.