Project to Create a Guide to Genetic Conditions

Involving Extra X and Y Chromosomes

Although the conditions involving extra X and Y chromosomes (47,XXY; 47,XXX; 47, XYY; and variations including 48 and 49 chromosomes such as 48,XXYY) are the most common of the chromosomal disorders, they remain unfamiliar to most lay persons, as well as to education and social services professionals.  Even most members of the medical community treat them as “orphan” diseases, despite their prevalence.

Several years ago, I wrote an article for Exceptional Parent Magazine, “Our Journey with Klinefelter Syndrome”, about my son’s prenatal diagnosis, and our family’s journey to obtain appropriate therapeutic and educational services for him, and to meet other families and individuals living with the condition. 
I received numerous e-mails and letters from individuals and parents who had never read an article such as this for lay persons, requesting that a more comprehensive guide be available.  The correspondence also asked for real-life illustrations of how families and individuals cope with life with these syndromes.

When John was diagnosed, there was no web and no online community for support.  We have that now, so there is at least some emotional support, but we need to be able to provide a readable compendium of what we know from current research, and what our families have discovered as we have walked their own journeys. 

I am a writer and a teacher with an academic developmental disabilities center, the Cody Center, at Stony Brook University.  I decided to put my talents to work pulling together information from professionals and stories from individuals and families, and applying for funding to publish and distribute a guidebook for families and individuals who are coping with .  A small group of persons has agreed to work with me on writing and editing for the project, and I have identified graphics and publishing professionals who will work at a substantial discount.  It will also be posted on numerous websites for downloading.

What I need now are your stories, because I intend to illustrate what could be a dry text, with de-identified real-life illustrations from real families and individuals affected by X and Y chromosome variations.  I can be reached at any time at 631-655-5329 (my cell phone) or by e-mailing me at Virginia.Cover@stonybrook.edu.  We can set up a time to talk and I can interview you and take notes, or you can just send me an e-mail about your experiences.  I am looking for illustrations from individuals and families about how they have handled issues such as: 
·    prenatal diagnosis; diagnosis at any later stage in life, especially in adulthood
·    disclosing the diagnosis to relatives, friends, intimate partners, schools, employers
·    searching for accurate information from genetic counselors, physicians, on the web, or in support groups
·    educational challenges, including early intervention, school years, college
·    medical concerns, including testosterone therapy, osteoporosis, venous ulcers and phlebitis, gynecomastia, other health issues
·    emotional concerns- ADHD, depression, anxiety, self-esteem, contentment 
·    relationships, friendships, social skills
·    vocational and workplace considerations
·    infertility
·    anything else that you would like to discuss

Any text used will be de-identified and attributed to one or two initials, or kept completely anonymous, as you choose.  



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Last updated on September 3, 2009