Ginnie cares to serve as KS&A’s Director of Education because…

Our family includes Al, my husband who teaches Political Science at Stony Brook University; our older son, Joshua, an intelligence officer in the Army Reserve, currently stationed in Iraq; Jonathan, our 17-year-old, who likes golf, videogames and flying airplanes; and myself.  I hold an MSW and an MBA, and am the Grant Officer at St. Charles Hospital and Rehabilitation Center, as well as the Development Officer at the Cody Center for Developmental Disabilities at Stony Brook.  I think that my career took this turn as a natural progression in the XXY “adventure” that we have been living since before Jon’s birth.  Prior to that, I spent my days as a Finance Director at the Health Sciences Center, and gave little thought to returning to my social worker roots, as I seem to have done.

Our adventure with 47,XXY (Klinefelter syndrome) began one fall day when I received a phone call from my obstetrician telling me that a problem had been detected in the results of the amniocentesis.  I was 38 and pregnant with a long-wanted second baby, conceived after years of trying to provide a sibling for Josh, who was then 7.  She told me that our baby, a male, had an extra X chromosome, a condition that “was often associated with low IQ and behavioral problems.” She also told me that a termination was possible and that if that is what we decided, she would want me to schedule it within a few days, because I was already 18 weeks pregnant.  We should talk as quickly as possible with the geneticist, Dr. Carolyn Trunca, who was waiting for me to call.

I was devastated.  I quickly told my office staff that there was a problem with the baby and that I was going home.  I telephoned the geneticist, who told us that she could see us that afternoon, and phoned my husband, when he was out of the class he taught, to tell him that we had an appointment to discuss the baby’s chromosome variation and whether we should continue the pregnancy.

I don’t remember much of the appointment except that the geneticist and the genetic counselor were kind, understanding and very knowledgeable about Klinefelter syndrome.  Dr. Trunca had been to the medical library and had copied several recent articles, as well as taken out a book of Sex Chromosome Aneuploidy (SCA) studies funded by the March of Dimes.  She told us that SCA’s were mildly to moderately disabling, with learning disabilities and possible behavioral or psychiatric difficulties.  The chances of retardation were very slim, and the prospects for a normal childhood and adult life, especially with good education, were excellent.  She offered names of persons who worked in the Health Sciences Center who had brothers with Klinefelter syndrome, and told me that they would be happy to talk with us.  Also, she explained that the pediatric endocrinologist, who she said had a number of XXY patients, would be happy to see us.  We spent the next two days speaking with a number of people, all of whom were encouraging, and reading everything that Dr. Trunca provided to us. 

In retrospect, having access to accurate written information and supportive, knowledgeable practitioners probably changed this from a tragedy to a situation where we were prepared for and accepted whatever disabilities our baby might face.  We were able to move on and anticipate Jonathan’s birth without worrying unduly about his future.

In all honesty, Jonathan’s childhood was not as carefree as we anticipated.  By 15 months, he was severely delayed, which I seemed to see but our first pediatrician did not.  We started him in intensive early intervention, and he caught up quickly.  He did have the best of early intervention, special education preschool and mainstream elementary school with resource room.  By age 9, however, he became severely depressed and suicidal, and was immensely unstable for the next four years, during which he attended programs far from our district where he could have one-to-one attention.  We found mood-stabilizing medication that helped greatly, and he returned to a local school with a program for high-functioning autistic children, where he blossomed.  At the same time, we started him on testosterone supplementation.  I was skeptical of the claims about testosterone and its transformative ability to alleviate depression.  But over a period of about six months, Jonathan became much more cheerful and less rigid in his behavior.  He now attends a special program in a mainstream high school, and anticipates going to a supported college program next year.

Our journey also included hearing about KS&A from a newspaper clipping sent to me by my mother.  We attended our first conference in Bethesda, MD, where we met others in the New York area and joined the support group there.  By this time, I had begun turning my attention from straight healthcare finance to starting and operating innovative programs with grant funding from both governmental and non-profit sources.  It began to dawn on me that while other developmental disability conditions had national organizations that supported research and provided support, the sex chromosome conditions seemed ill-served, and I wanted to lend my efforts to supporting visibility and progress to these “hidden” disabilities.  Through the New York support group, I became active in AAKSIS (American Association for Klinefelter Syndrome Information and Support) and subsequently served as President for a year.  It did not seem to make sense, however, to put effort into running two separate groups; and given Mary Davidson’s expertise and Robert Shelton’s reasoned and creative approach and KS&A’s broader emphasis on all the X and Y chromosome variations, I decided that joining with KS&A would give me more opportunity to put my grant writing and fundraising talents to good use.

My goal for KS&A is to develop Web-based educational materials and mini-conferences that will allow maximum access for families around the world to find accurate and up-to-date information about X and Y chromosome variations, including diagnosis, treatment options and current research findings.  I also want to help make the diagnosis of a SCA as commonly considered as dyslexia, ADHD and pervasive developmental disorders (PDD).  In fact, SCA’s often get lumped in the “PDD - Not Otherwise Specified” diagnostic categories because the necessary genetic testing is not pursued by either physician or family.  It is my belief that we need to develop private research funding to provide seed money, and lobby for major Federal funding (NIH, DOD, CDC) to learn more about these conditions and how to minimize symptoms and assure a high quality of life for all affected individuals.

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