KS&A Program Coordinator - XYY Population
Past Board Member
The journey that my XYY son would lead me on when he entered the world was one I never expected. In an effort to emphasize my heartfelt passion and dedication to improving the lives of those persons and families who are affected by an extra Y chromosome, perhaps the best place to begin is by relating a few details about my own journey.
When Brandon was 6 months old, due to a number of problems he was having, it was suggested that we take him for a neurological evaluation. Blood tests and some basic chromosomal tests were run, and sent off to a geneticist for evaluation. A few weeks later, we were informed that Brandon was 47,XYY. We were handed a printout on XYY that the geneticist had downloaded from the Internet and were told: “Of all the genetic disorders to have, this is a pretty good one so you should be thankful.”
Since neither the geneticist nor any of the medical professionals we saw could give us more than a half-educated guess or a blank stare, I committed myself to trying to locate and read everything that had ever been written about XYY and trying to seek out more knowledgeable professionals. I did this by staying up until 3 a.m. almost every night searching for information on the Internet and contacting specialists who might actually know something about the condition.
Fortunately, this research has provided us with a wonderful network for Brandon and has saved us from misinformation along the way. Such as the time when a physician’s assistant told us that since our son was XYY, he would probably have to be institutionalized as an adolescent. When I asked about her source for this advice, she condescendingly told me that I might want to do some reading on XYY. However, it was clear as our conversation proceeded, that I knew more about the condition than she did.
At one point we were told that Brandon had a heart defect and would need open heart surgery. A week later, we learned that his heart was fine. On another occasion, following a neurological exam, doctors speculated that he had hydrocephaly and could require a shunt. This too turned out to be a false alarm.
In November 2002, we took Brandon to have his 2-year MRI. The day before we were to leave for Christmas vacation, I received a phone call from my pediatrician who informed me that the radiology report stated that Brandon’s brain was demylinating, and that he could very well have a fatal disease. More tests ensued; and a week and a half later, the day after Christmas, we received word that the radiological report was incorrect. There were no signs of demylenation.
This was a pivotal moment. What a life changing experience it was to hear that I might lose my child and live with that possibility for almost two weeks.
This resulted in a significant shift in my worldview. The experience made having a child with a chromosomal variation seem like a good thing in comparison, and something I should indeed be thankful for!
Although there are still occasional days that I feel sorry for Brandon, or myself, I just think about Christmas 2002, and remember what a blessing he is. And as I watch him making such tremendous progress, I am reassured that the payoff is worth the effort.
It was through my 3 a.m. searches that I learned of an organization called KS&A, and made contact with some of the XYY parents on the “2Y” list serve. This eventually led to my introduction to Robert Shelton, KS&A’s chairman, who shared his vision for the future of the organization and the potential to better the lives of children and adults with chromosomal variations like Brandon’s. Robert informed me of KS&A’s interest in expanding their support network for all of the major X and Y chromosome variations, and recruited me as the program coordinator for the XYY population.
I was easily sold on joining forces with a group of other people who are as passionate and dedicated as I am, and who have such similar goals. As a child and family therapist by trade, it comes naturally to me to want to empower others and work with families and children facing challenges. It is my greatest desire to give parents and children with the news of this diagnosis accurate information and support that I had searched for, but to no avail. The empowerment of connecting with other parents who have been down this road can’t be underestimated. I am honored and excited to be a part of KS&A.
I have only begun the journey with my son, but I cherish every day and live my days more fully and in the moment, knowing what a true gift he is. My thinking has evolved from questioning, “Why was I cursed with a disabled child…?” to feeling “How awesome that this little boy has been entrusted into my care, and what an honor it is that I was chosen to be his mother…”
It is my hope that I can play a small role in supporting other children and parents, and engender hope as they struggle with the news of this diagnosis. Being a small part in educating, supporting others and furthering research efforts in this area is both exciting and overwhelming. Nonetheless, I feel called to do what I can, and am hopeful you will join us in these efforts.
I look forward to meeting and connecting with those of you whose lives have been touched by someone with an X and/or Y chromsome variation.