Our family includes Al, my husband who teaches Political Science at Stony Brook University; our older son, Joshua, a law student, and Jonathan, who is 23 and was diagnosed prenatally with Klinefelter Syndrome.  Jon recently moved into a supported apartment program for high-functioning young adults with disabilities such as Asperger Syndrome, mild cerebral palsy, and various mental health issues.  I hold an MSW and an MBA, and recently retired from my job as an administrator and social worker at the Cody Center for Developmental Disabilities at Stony Brook University. 

In this new phase of my life, I have established a private practice as a social worker providing transition to adulthood services to young adults with developmental disabilities and their families.  I create self-determination plans that allow young adults to direct their own life skills, vocational and residential services funded by New York State’s Office of Persons with Developmental Disabilities. 

I am also devoting the first year of my retirement to researching and writing a lay level family guide to Klinefelter Syndrome, and other conditions involving extra X and Y chromosomes.  I have not yet developed a title.

Since receiving a prenatal diagnosis of Klinefelter Syndrome when I was 17 weeks pregnant with Jonathan, I have sought as much accurate and current information as possible regarding parenting a child with sex chromosome aneuploidy (SCA).  I was surprised when he was a baby and then a school age child that no such guides existed, despite the prevalence of these disorders.  As he entered his teen years and then young adulthood, I became convinced that this needed to be compiled. 

I finally decided that given my background as a social worker in developmental disabilities, and my experience in writing educational materials for families with children with special healthcare needs, this mission should be mine.  Our family has learned most of what it needed to provide services for Jonathan from other parents and adults in the SCA community.  A comprehensive guide is my contribution to this community.  Although I began research last year, I was not able to devote adequate time to the project while also working full-time.  Retiring in September from the University has allowed me to devote adequate time to completing this project and having it published by the summer of 2011.

The survey for parents, adults, and other affected by XXY, XXX and XYY, is one piece of research that provides me with information about the important elements that potential readers of the guide want emphasized.  This survey will help shape the guide.  It also provides real-life experiences that can be used (anonymously, of course) to help illustrate how these highly variable conditions have impacted affected individuals and families. 

Besides developing this guide for those affected by SCA, my goals including developing Web-based educational materials and mini-conferences that allow maximum access for families and individuals 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 an SCA as commonly considered as dyslexia, ADHD and pervasive developmental disorders (PDD) by health care professionals by providing continuing education programs, both in standard lecture format as well on-line.

For additional information about our family’s experience with Klinefelter Syndrome,please read the article that was published in 2006 in Exceptional Parent.

I invite comments and questions by e-mail