I don’t quite remember how I came in contact with Stefan Schwarz. I contacted several Klinefelter’s Syndrome websites for information, casually mentioning that I was looking for someone to interview in the future. Although Stefan insists I must have gotten his email address from his website, I don’t recall doing so. He contacted me several days later, seemingly out of the blue, eager to answer my questions. After a lengthy period of email exchange, a cancellation, and one error of memory on my part, we finally got an opportunity to talk.
Stefan always knew he was different, but he was never sure why. Throughout his life, he saw a number of specialists to assess his learning disabilities, mood swings and other physical and social issues, but the cause remained elusive. In 1996, when Stefan was in his mid 20’s, his general practitioner noticed that his testes were unusually small (something that had been previously dismissed by the physician as an individual difference), and after, a series of tests and a karyotype, Stefan received the diagnosis of Klinefelter’s Syndrome. Both he and his family were relieved to know the cause of his problems, and, in addition to the feeling of relief, Stefan progressed through stages of depression and anger. He felt a need for support that only other people with Klinefelter’s Syndrome could provide.
Stefan’s experiences emphasize the importance of support for anyone with Klinefelter’s Syndrome or any other disorder. Following his diagnosis, Stefan sought a Klinefelter’s Syndrome support group in his area and found that there were only two in the entire country. He formed his own support group in Boston (with the help of one other person), primarily to fulfill his own need for support, but also to provide a much needed support network for those affected with Klinefelter’s Syndrome in the northeast. What started out as two people looking for others like themselves ended up being a network of one hundred and fifty families affected by Klinefelter’s syndrome.
As he became more confident in himself and his ability to help others with Klinefelter’s Syndrome, Stefan branched out to nine additional areas of the US and assisted in the development of support groups in those regions. He became a national support coordinator, co-chaired a national conference, and will be chairing a national conference for Klinefelter’s Syndrome in August. He has been featured in several television interviews in an effort to educate the public, and he also endeavors to educate health care providers about the signs and symptoms of Klinefelter’s Syndrome. After finding support for himself, he was able to “give back” to the same people who supported him. Stefan has a genuine concern for others like him and is available anytime for help and support. He wants everyone with Klinefelter’s Syndrome to know that they “are not alone.”
I feel that Stefan’s most important message was that “the only way to get to know someone is to talk to them.” He emphasized the idea that everyone is an individual, regardless of the group in which they are classified. One needs to go beyond the the book definition of a person to know what they are really like. Stefan himself is a prime example. Although in his youth he exhibited shyness, moodiness, and social difficulties characteristic of Klinefelter’s Syndrome, he has overcome the definition of his disorder. He is now open and outgoing, an accomplished public speaker, and an influence in the lives of many families affected by Klinefelter’s Syndrome. I feel his statement applies to all people, with any disorder, of any social status, of any gender, and of any ethnicity.
During my conversation with Stefan, I came to think of him as an amazing individual. I went into the interview thinking I would be talking to an average man with Klinefelter’s Syndrome. He turned out to be one of the most influential men in the areas of support and publicity of Klinefelter’s Syndrome. Being a 46XY/47XXY mosaic, I did not think Stefan would exhibit many of the characteristics of Klinefelter’s Syndrome; however, only 5% of his cell population is XY, so he did in fact have many of the symptoms associated with the syndrome.
I expected him to be reserved in talking about his condition; however, I was pleasantly surprised by his openness. He has even posted his story on his own website (http://klinefeltersyndrome.org) for the public to read, which is a wonderful idea because it lets people know that a genetic condition is nothing to be ashamed or embarrassed about and there are others with the same condition out there. I am amazed by Stefan’s accomplishments and admire his dedication to people and families affected by Klinefelter’s Syndrome. He is looking for a way to make a career in Klinefelter’s support so that he can dedicate himself full time to helping others.