AXYS was founded on the response to a letter to Ann Landers sent by our founder, Melissa Aylstock. David Drexler, a long-time volunteer with AXYS and member of our communications committee, has written a beautiful, compelling letter to Dear Abby. Please write to Dear Abby and share your letter with us.
I’m writing you today to alert your readers to chromosome anomalies that affect one in five hundred people, male and female. Although they are the most common of the chromosome anomalies they are also seldom diagnosed, most often by amniocentesis or in a fertility workup.
Every cell of a normal body has 23 pairs of chromosomes and on those chromosomes are the genes that control who and what we are. The sex chromosomes (23rd pair) dictate sex. A normal male has XY chromosomes and a normal female has XX. For reasons we don’t know, in some cases there are more than two sex chromosomes with an extra X, called 47,XXY or just XXY. There can also be more than two Xs and more than one Y for example trisomy X or 47,XXX.
Sex chromosome anomalies can cause behavioral and learning problems in children, delayed puberty, low testosterone and infertility in adult males. All of these conditions can be treated. Persons with a sex chromosome anomaly are often very intelligent but their style of learning requires special attention. Early diagnosis leads to effective interventions that vastly improve lives. Yet the majority of individuals with these conditions go undiagnosed for years, even a lifetime. Misdiagnosis and resulting mistreatment are common and lead to unnecessary suffering.
I’m an XXY person. I was diagnosed at age 19 following delayed puberty. My childhood was tumultuous. I was full of anger and rebelliousness and I had ongoing scholastic failure despite an IQ of 128. Fortunately my mother was willing to spend hours every night using flash cards to drill me into learning what I had to. I was constantly getting in fights with my siblings and bullied at school. My theme song would have been titled “Why do you have to be different.”
At age 18 when puberty didn’t seem to be happening, my father took me to see an endocrinologist who put me on a huge dose of testosterone. Nobody warned me what this would do though in retrospect my father had been advised. It made me insanely libidinous, like a hunger that couldn’t be satisfied. I lived in dread of being called to write something on the blackboard in school.
About this time I began to develop breasts. Typically 60% of XXY persons have significant gynecomastia, which can only be treated with mastectomy surgery. I had that surgery over Christmas break my senior year of high school. It was a lonely time; I had no one talk to about what was going on.
The endocrinologist said he’d never seen a case like mine and advised my father to take me to the Lahey Clinic in Boston. At the clinic they made me lie naked on a gurney while an instructor brought in an entire class of medical students for show ‘n’ tell on my body.
Then they gave me the bad news. I had Klinefelter Syndrome which is caused by XXY. The doctor who told me was cold. He said I’d be infertile and there was nothing more could be done about it. He also told me I didn’t need to take testosterone anymore but I might need it again sometime in the future if I became impotent.
When I got back home I went to a college library and looked up Klinefelter Syndrome in a medical encyclopedia. There was very little information, just that people who have are retarded with a propensity to commit sex crimes. Of course that didn’t apply to me so I figured the best thing to do was take the doctor’s advice and just forget about it. Don’t try to discuss it with anyone; keep it a deep, dark secret.
Some 20 years after that and the dawn of the Internet lead me to search on Klinefelter Syndrome on day. I discovered an active net community and dozens of people who could relate to what I’d been through. I resolved to learn as much about it as I could and do my best to keep anyone else from having to face similar experiences.
Our organization, AXYS (Knowledge, Support, and Action) is a non-profit group that serves individuals and families of individuals who have a sex chromosome anomaly We provide information, promote testing, we have forums for people to share information and personal stories, and a toll-free number for counseling. For more information on AXYS and sex chromosome anomalies please visit our website at genetic.org.
on behalf of AXYS at genetic.org
Thank you, David. Won’t you please add your voice with a letter to Dear Abby?