Jill cares to serve as KS&A’s Program Coordinator for the Trisomy X population because…

In KS&A’s Spring 2004 Newsletter, The Even Exchange, Jill provided an explanation for her interest in X and Y chromosome aneupolidy, and described why she cares to serve as KS&A’s Program Coordinator for the Trisomy X population.  In this article, Jill stated:

In 1998, we learned that our then 10 year-old daughter had an extra X chromosome.  Following years of efforts to find out the genesis of the developmental problems experienced by our daughter, the diagnosis was a bit of a mixed blessing for me. 

On one hand, it explained why my daughter continued to experience learning difficulties, which seem to be largely language-based and to persist despite a number of interventions such as speech/language therapy and tutorial assistance.  On the other hand, having found out the genetic explanation for these challenges, I became frustrated that my research into the condition known as 47XXX, Triple X or Trisomy X yielded so little in terms of scientific literature.  Unfortunately, the medical doctors we saw were aware of the genetic profile, but unable to offer anything but minimal help or assistance in dealing with the myriad issues we faced.

In my quest to find information, I discovered one support group that was being operated out of London, England, and a website devoted to Triple X on Yahoo’s Rare Genetic Diseases bulletin boards.  The bitter-sweet fact of the matter is that over the years, I have learned more about the chromosomal condition by sharing information with other parents whose acquaintance I have made through the website and support group than I have from the traditional medical community.

Although our numbers are smaller than some of the other X and Y chromosome variations, I can’t help but wonder where are all the other girls?  According to the scientific literature, Trisomy X occurs in approximately one out of 900 to 1000 live female births.  And yet our numbers have hovered in the hundreds of individuals for a condition that affects millions worldwide. 

I have speculated that one reason for this is that it appears there can become a pervasive sense of resignation about this condition.  While we all hope for the best, in part because the symptoms can be so mild and there is such a small amount of literature concerning treatment modalities, we eventually become resigned to accept that the problems we experience are just an unavoidable given that we have to deal with.

And yet my education in Kinesiology and my profession teaches me that this is not necessarily true, and that with greater numbers we can promote a research agenda and develop a set of best practices to improve the lives of girls and women who are affected by this condition.  Thus, I became intrigued by the question of how best to reach, motivate and mobilize this heretofore silent community and to connect into the opportunities I know lie ahead for all of us through organization and involvement.

Accordingly, when KS&A posted a message on the “3X” ListServe about the proposed strategy of incorporating Trisomy X within its new organizational structure, I thought this would be an ideal opportunity for the Trisomy X population to align and launch itself as part of the larger X and Y chromosome variation community.  Although some of the symptoms may be unique to individual populations, I believe the issues that families face and deal with are remarkably similar.  Through this larger alliance, it is my hope and belief that the Trisomy X population will be able to pull together and share their knowledge with each other, benefit from the experience and expertise of other groups, and ultimately contribute to building unity and strength within the X and Y chromosome aneuploidy community.

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