The Kitchen Table Is a Good Place to Start: Klinefelter Syndrome and Associates
When our son was diagnosed with Klinefelter syndrome in 1988 we went to see a genetic counselor. Perhaps she was naive in assessing our family resources and ability to understand the implications of our situations (my husband and I both held college degrees) because she declined to give us copies of the medical literature she had collected on the subject citing the fact that "it wasn't written for lay people." This became the catalyst for our founding Klinefelter Syndrome and Associates.
Your catalyst may be different, but the outcome you are seeking is most likely the same. You want knowledge, with the hope that new information will help you to better the genetic situation both your family and others may be facing. The route you take may be different but the goal is universal.
We didn’t start out to found a support group; far from it. In the beginning I was looking, selfishly, for support for myself. However, when we read over a thousand letters in response to a letter we wrote to Ann Landers, we were filled with angst over the great need of so many families trying to deal with this genetic condition on their own. This quickly became less about our family and more about a universal problem.
Those first letters were full of anxiety, shame and surprisingly, checks. The anxiety came from not knowing how to make the situation better, the shame arose from believing they had somehow contributed to the genetic condition through their lifestyle, and the checks helped us make a difference. The letters were painful reminders of what my husband and I were currently dealing with in our own lives, but they brought comfort that we were not alone, the single most important thing for us to know in the beginning. These checks were not negotiable. We had not even started a formal group yet, let alone a bank account! But we knew we had to.
With no idea of what we were getting into, with no formal training or source of renewable funding, my husband and I edited and mailed our first newsletter. We formalized the organization by becoming an association and went to a local bank that helped us open our first business checking account. The name of our group, Klinefelter Syndrome and Associates, was simply what people wrote on the first checks.
The first thing we learned (and on-the-job training was the primary source of education for us in the beginning) was that families dealing with this condition were afraid to let anyone know they had an affected family member. This was not too surprising for us. In the beginning, my husband made me promise not to tell anyone of our son’s diagnosis. You may find it ironic that when we did share, it was with the world – through Ann Landers. My husband consented to mailing the letter because he thought she would never publish it. I was so naive back then that I used my real name when I signed it. For years, people continued to address me in their written greetings as "Melissa," complete with quote marks, thinking this was a pseudonym.
The second thing we learned was that this took a lot of work and space. It started big and got bigger each month. First we sorted mail at the kitchen table, and then we moved into a spare bedroom. Eventually we took over the room above the garage. This year we are moving into an office suite with a paid staff person—yeah! In the beginning, we worked at it as needed, but as we expanded it became my full-time job, and then some.
Because we organized so quickly and filled an unmet need, we were inundated with requests by not only parents, but also genetic professionals who were looking for parent reference materials. We didn’t have any professional backing at the time, so our meager efforts were slim on content and big on anecdotal information gleaned from the letters we received.
The only problem was, in general, the families who contacted us were experiencing fairly significant problems and those experiences were the basis for our understanding of Klinefelter. It was like the story of the blind men examining the elephant: one gentleman felt the tail and thought the beast was like a snake with hair, another gentleman felt the trunk and thought the beast was like a tree, and the third gentleman felt the snout and thought the beast was like a pig. They didn’t have the proper perspective, and neither did we.
Even now, if we are not careful, it is easy, on the basis of the experience of those who contact us, to support the theory that this is always a very serious condition. This is perhaps a universal problem for all support groups—those most likely to contact them are those who are most severely affected.
One of the defining moments in our organization came when a researcher contacted us and offered to help put together a scientific advisory committee (SAC). This provided our organization, which had just received our nonprofit 501(c)(3) status, the professional polish it needed to go beyond the handholding we had been providing to affected families. We now had a committed, listening audience in our SAC. We were able to share what we had learned anecdotally and encourage the scientific community to research these issues using scientific protocols. This led to new and expanded knowledge about our genetic condition that has been peer reviewed and is accepted by practicing clinicians.
From our small beginnings we are pleased to note that we now have more than 11 years of on-the-job experience, eight national conferences under our belt, a variety of professionally reviewed brochures, and a newly released video with members of our SAC presenting case reports. In 2000, National Institutes of Child Health Development and the March of Dimes cosponsored our first scientific meeting. This landmark meeting brought a group of international scientists and clinicians together from a variety of disciplines to the NIH campus for a two-day gathering open to the scientist, clinician, and consumer alike.
As we look to the future, we are encouraged by the wonderful proliferation of genetic support organizations that are flourishing around the world. As we are willing to put in the time and effort for our various genetic causes, we will continue to make the world a more comforting place for all.
(Melissa Aylstock Executive Director, Klinefelter Syndrome and Associates)