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Stefan D. Schwarz: Life with Klinefelter Syndrome

While doing research on Klinefelter syndrome, I came across a web site (Stefan’s Klinefelter Syndrome website) authored by Stefan Schwarz in which he talked about living as an XXY male. As I read further through his writings, I found out that he was in charge of a support group for Klinefelter syndrome in Pennsylvania that met at the Lehigh Valley Hospital. I decided to send him an e-mail to see if he would be willing to discuss his life experiences and further my knowledge of the genetic disorder he lived with.

My original message was sent to him on a Friday and by Sunday night, Mr. Schwarz had gotten back to me expressing his interest in talking with me about a topic that he has great passion and knowledge about. As I spoke with him, I realized that not only was Mr. Schwarz a perfect candidate to speak with about Klinefelter syndrome because he was diagnosed with it, but that he was also extremely active in the community in spreading awareness about living as an XXY male.

Like many males with Klinefelter syndrome, Mr. Schwarz was not diagnosed until adulthood. While in his mid-20’s, he was having chest pains and decided to take a visit to a general physician. The visit ultimately became serendipitous because the doctor did not find out why Mr. Schwarz was having chest pains but did diagnose him as having Klinefelter syndrome. At the age of 25, he was officially diagnosed as a 47-XXY mosaic, which essentially means that 95% of his cells are XXY. Now 34 years old, Mr. Schwarz looked back on the process by which essentially started his clinical history with Klinefelter syndrome.

“For me, it was a fluke that I found out,” Mr. Schwarz said. “I was having chest pains and went to my general physician where he did a complete physical. During the physical, he noticed my testicles were smaller than they should be. They did blood work which later showed my testosterone being low. Shortly after that, he did a karyotype.”

For Mr. Schwarz, the diagnosis was the missing piece of the puzzle. He said that the associated symptoms that accompany Klinefelter syndrome were present throughout his first 25 years of life. Specifically, he had some learning disabilities, some behavioral issues, and some elements of developmental delay all throughout his adolescent years at school. Currently, much like a large proportion of XXY males, Mr. Schwarz’s treatment consists of testosterone injections which he self-administers. He also takes annual visits to an endocrinologist.

Since his diagnosis, Mr. Schwarz moved to Fairfax, Virginia with his wife, Chris, 9-year old stepson, and 6-year old stepdaughter. His stepson was prenatally diagnosed (amniocentesis) with Klinefelter syndrome. As of the time of the interview, Mr. Schwarz’s stepson was about to take his first visit to an endocrinologist, in addition to already interacting with a neurodevelopmental specialist, speech therapist, and physical therapist. Mr. Schwarz said that the neurodevelopmental specialist, Dr. Carole Samango-Sprouse has been extremely helpful in progressing his stepson through development.

One important point made by Mr. Schwarz during the interview was directed towards those individuals with Klinefelter syndrome: “don’t give up, you’re not alone”. It seems like such a simple statement, but in reality, it’s very poignant. “That’s the first thing I thought when I was diagnosed,” Mr. Schwarz said. “I don’t know anything about this, my doctor doesn’t either. A lot of men feel the same way.”

In fact, it seems to be a premise of Mr. Schwarz’s life. Often times, society places stigmas on any type of disorder which causes those afflicted to feel isolated. Individuals in need of medical and psychological support cannot be expected to improve if they are in fear of being unfairly labeled and judged, especially Klinefelter syndrome which affects 1-in-500 males. This is why Mr. Schwarz has become so involved with support groups and organizations for Klinefelter syndrome. When social stigmas prevent individuals from receiving the treatment they need, the individual has been done a great disservice. In addition to starting a XXY support group in the Lehigh Valley area, Mr. Schwarz has been instrumental in establishing support groups in other areas. He even was interviewed for a PBS special on Klinefelter syndrome. Being proactive can often be the best form of treatment.

“I started a group in Boston and they still exist,” Mr. Schwarz said. “I work with another adult group in the northern Virginia area. It’s another man’s group but I help him out. I also help 10-15 other groups. Some are in Buffalo, Texas, and Michigan. I’ve also chaired two national conferences. I do whatever I can.”

Another point made by Mr. Schwarz which is often overlooked is, as he put it, “to look beyond the surface”. He directed that statement not only to the general public but also to medical practitioners who have the job of diagnosing individuals with a variety of conditions. What he meant by it was that in today’s society, we are tempted to preemptively label people with certain conditions which then places them into a category as “disabled” or “learning disabled”. They are then simply written off. This ultimately affects proper diagnosis and treatment. Sometimes people need to “look beyond the surface”, especially with XXY males and put in some extra time and effort to make an honest approach to help accommodate those afflicted to flourish.

“By looking beyond that surface I mean looking at kids who are in school and aren’t achieving their potential or their perceived potential,” Mr. Schwarz said. “I know this doesn’t relate medically, if I can explain it correctly, with the right amount of patience and being able to unlock their potential, they may see a whole different student.”

As an example, Mr. Schwarz’s IQ in school was around 85-90. As he got older, he learned to focus on his strengths instead of his weaknesses. Through his hard work, he was able to go to college and even take master’s level courses. Currently his IQ tests in the 140s. As Mr. Schwarz pointed out, a lot of the symptoms of Klinefelter syndrome are not necessarily overt. Since not all XXY males share the same exact symptoms, rather a collection of symptoms from a series, the ability of practitioners and educators to be patient is essential. Again, this is why it is so difficult to diagnose Klinefelter disease, but also why there is an element of patience that goes along with diagnosing/treating it.

A third point that Mr. Schwarz made was the importance of having a good relationship with those in the medical field, specifically an endocrinologist. The main form of treatment for XXY males is testosterone injections which need to be regulated and prescribed by an endocrinologist. Since his stepson was prenatally diagnosed, Mr. Schwarz and his wife have taken steps to make sure that he receives the proper clinical attention so that he can. As mentioned previously, Dr. Samango-Sprouse has been integral in helping his stepson’s development. The relationship the family has established with her has been invaluable in the treatment.

“She has the world’s largest practice of boys with the condition and has been studying it for over 20 years and by far can help many boys so that they that do find in life usually without too many issues,” Mr. Schwarz said. “She’s that good. She is world-renowned.”
Developing a relationship with a practitioner all goes back to making individuals feel comfortable that it is acceptable to deal with their respective medical issues. For XXY males, the stigmas can prevent this from occurring but nonetheless does not diminish the importance of forging that bond.

Reflecting on my interview with Mr. Schwarz, I think his points about living with Klinefelter syndrome can be applied to anyone living with a condition or other issue. What I found most appealing about Mr. Schwarz is that he is very proactive about his cause. He makes a point to stay involved in the community and educate others, all the while helping himself.

I immediately thought about the locust of control theory of psychology which states that there are individuals who have either an internal or external locus of control. Those individuals with an external locus of control feel that they are in less control of their life and that the control lay outside their autonomy. Those with an internal locus of control believe that they control their own lives and have a distinct level of autonomy. Mr. Schwarz definitely has an internal locus of control, and it serves him well.

When everything is put into perspective, I think that Mr. Schwarz embodies the concept that sometimes you have to take responsibility for yourself and your health. When that happens, you can take steps to approach the right types of medical treatment. But I also think the fact that Mr. Schwarz has been so involved and been so proactive with the Klinefelter syndrome community, he has almost self-medicated himself. The good he does for others clearly has a positive impact on him.

Mr. Schwarz blew away what little expectations I had of an individual with Klinefelter syndrome. I was able to find a lot of information through my research, partly because there are so many men affected by the condition that seemed to indicate that despite being labeled as having a “syndrome”, XXY males lead very good lives. I never imagined that Mr. Schwarz’s life would be so impacted by his condition, but I think that is something that many people who are not affected by a genetic condition realize. I knew that XXY males had a positive prognosis, but the ability to speak with someone who lived his life with the condition seemed to drive the message home a little more.

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