LIVING WITH KLINEFELTER SYNDROME


Summary:

Since I have been told 'my story', as evidenced below, is very long, I wanted to give you a brief summary of who I am.  I was diagnosed in 1996 and began taking hormone replacement therapy (HRT) at that time.  I have been on it ever since and currently inject 1cc of testosterone intermuscular (IM) once every 12 days.  This method has worked well for me.  As of July 2006, I am married, have two step-children, have been working as a software quality assurance engineer for the past ten years and am loving life.  For more information about me, my family, my diagnosis in greater depth and the work I have been doing with Klinefelter Syndrome, check out 'my story' which follows.


My name is Stefan, I was diagnosed with Klinefelter Syndrome (KS) in February 1996 at the age of 25. Being diagnosed with KS has been, for the most part, a big sigh of relief after a life of frustrations. Granted, it was difficult and had a period of adjustment especially after finding out at age 25. Klinefelter Syndrome, as you may or may not know, is hard to diagnose. It occurs in roughly 1 in 500 males.

First, I would like to tell you a bit about my life, mainly before the diagnosis. I was born in March of 1970.  I was a happy baby, at least indicated by my parents and other family members. I was also told that I behaved well and did what I was told. However, it always seemed throughout my early childhood, teens and even somewhat now that I was very shy, reserved and had trouble making friends among my peers. My temper always got the best of me and I would fly into rages for no apparent reason. One minute Iíd be very calm, the next I would be picking fights and throwing things.

My parents knew when I was very young, that there was something about me that wasnít right. But they could never figure it out until the diagnosis of Klinefelter Syndrome in February 1996.

Throughout life I saw many psychologists, psychiatrists, therapists and doctors to try to determine what my problems were with regards to school, social problems and severe mood changes. There were no substantial explanations that they found while testing me for a variety of things. The tests occurred roughly between 1975-1985. Klinefelter Syndrome was not even considered because it was so rare and not known about. Even now, KS is still rare in thinking and diagnosed cases (although I am working to change that). Getting back to the psychologists, etc..., their only diagnosis was learning disabilities (LDís) which with some people, can be a symptom of KS. My learning disabilities created many problems during my schooling years. My disabilities consist of reading comprehension, abstract thinking, understanding of non-visual materials, word retrieval, some slight memory retrieval, auditory processing and the taking of standardized tests. These learning disabilities that I have mentioned hampered my abilities during all of my schooling years until I learned to compensate for them. I can honestly say that if I hadnít learned to compensate for my disabilities, I wouldnít be where I am today. My approach took years to perfect. In fact, every time I am faced with a new situation that I donít know how to handle or figure out, I go back to my compensation modes and strategies. For years, I had enormous amounts of tutoring and extra help sessions. I hated them.

In the seventh grade, I was told by a psychologist that I was stupid and lazy and Iíd be lucky if I graduated high school. I would probably live at home for the rest of my life and I would never amount to anything. After this for the next five years, I did basically what he said. Iím still not sure what his motives were for saying what he said.  I believe though, that I have succeeded because I was told that I would fail.

Then, after barely graduating high school, I started out at a local community college in a suburb of Baltimore, Maryland. I decided at that point, to stop the tutoring sessions and figure things out on my own. The support services were there in college if I needed or wanted them. I worked very hard for three years while at the community college and I received an Associates Degree in Business Administration in May 1992. I never once sought special help during my three years there. After graduating, I transferred to a small liberal arts college in New Hampshire to finish up my Bachelor of Science degree in Business Administration. During my second year, supposedly my last year in undergraduate, I decided to spend an extra year to complete a second Bachelor of Science degree this one in Sports Management. I spent three years at this college, graduated with two Bachelor of Science degrees and never once sought special help nor did I let on about my learning disabilities to anyone. The reason I never discussed my learning disabilities was because I took pride in doing the work by myself and not being treated as if I was special. I still do not discuss my learning disabilities because Iíve learned to work around them and compensate for them and still donít want to be treated differently than anyone else. My grades at this college were excellent. I never had a semester below a 3.0. One of my personal goals was to graduate cum laude. I failed to achieve this goal but achieved other personal goals by making deanís list and national deanís list for the first time ever. So much for the 680 combined on my SATís.

I had thought directly after college of pursuing graduate studies and applied and was accepted into a graduate program at Springfield College, but decided it wasnít the right time or the right field of study.  All of this happened before being diagnosed with Klinefelter Syndrome.

I moved to a suburb of Boston, Massachusetts to start a job in the computer field as a software engineer for an Internet based company in July 1996. Granted, I do not have an educational background in this field, but experience wise, I have been using some type of computer for 18 years and have learned everything I have needed to know on my own. Incidentally, many KSíers excel with computer skills and knowledge. It can make it easier to learn. I know from personal experience. As I mentioned, there are still times when I have to learn a new way of compensating to deal with a new situation. Iíll be the first one to tell you that it is not easy. It is very tough, a lot of trial and error. A lot of times Iíd be running face first into a brick wall (figuratively, of course), but eventually, over time, I would figure it out and be very proud of myself. I wouldnít be nearly as successful today if I hadnít learned to do this on my own. This has taken a serious drive, but I now know and have the confidence in myself that I can accomplish anything I set my mind to. If I take the time to figure it out and learn to process it in a different way.

To find out my KS diagnosis, I had gone to my general physician for a physical. It was there that he noticed that my testes were smaller than they should be and sent me for blood work. A month later, after the lab results and karyotype had come back, the results were conclusive. It showed Klinefelter Syndrome 47XXY.  Although I have since learned that I am actually a variant of Klinefelter Syndrome called mosaic, where after review of my chromosomal makeup 5% of my cells are 46XY and 95% are 47XXY, thereby making my Klinefelter Syndrome signature 46XY/47XXY.

Iíll tell you a little bit about Northeast Regional (Boston Area) Klinefelter Syndrome Support Group that I founded late in 1996. After seeing the symptoms of Klinefelter Syndrome and what effects they might have - I found it described me perfectly. After getting over the initial shock, and dealing with the denial, depression, sadness and anger, I decided that there could be things much worse in life and I decided that taking a positive approach was a much better way to go.

When I moved to the Boston area in July 1996, I found that there wasnít a support group here for KSíers, like myself or for parents of KS sons. I decided to start a Klinefelter's group in this area for three reasons. The first was for support for myself. The second reason, and most important, was to help other KSíers deal with it and not have to feel alone, to help families of younger KS kids deal with it and to help families who are just finding out prior to the birth of their son. The third reason was to have a place for KSíers and families to connect. These are the ways I felt I could positively help with Klinefelter Syndrome.  What I found after deciding to start the group, was the outpouring of need for a group like this in the Northeast. The response has been incredible.

I know that Klinefelter Syndrome isnít talked about or known about among many professionals. The best way to help myself deal with it, is to help other people deal with it and to spread the word about KS.

My goals with Klinefelter Syndrome are to educate, educate, and educate! Getting the word across, making myself and the group known is what I continually try to do. My goals are also to help the people just finding out and to help them to not feel alone and to cope with KS.

There are several different kinds of treatment available for KS. They are all for hormone replacement therapy (HRT), and the types include injections, 2 types of patches and oral medication. I give myself a testosterone injection once every two weeks intermuscular (IM) in the thigh. I find the treatment to be good and have found that it has made me feel like a different person. This is a good thing. My learning and thought processes have become stronger. I am a much more outgoing person and I have become more of a leader. Granted, not all of this is due to the increased testosterone level, some is from a new confidence level and some is from maturing as a person.

The usual age to start the treatment is around 11-13 years old. The later that one starts hormone replacement therapy, the more problems that can exist. However, being the difficulty in diagnosing Klinefelter Syndrome, as well as the expense involved in having a Karyotype and/or Chromosomal Analysis done, some people, like myself, did not find out until later in life and did not start HRT until later in life. For me, it would have been great if I could have found out about Klinefelter Syndrome and started on testosterone about 10 years earlier, but thatís just the way it went. Plus, there is no guarantee that the symptoms I described earlier would have helped even with the onset of a normal testosterone level. The currently available research is not conclusive that any of the learning or behavioral problems would have been any different if I had been treated earlier.

I feel that parents who are finding out prior to the birth of their son or parents of infants or young children are very lucky. When I talk to parents, the first thing I tell them is how lucky they are to find out now. They ask me why and I tell them that there is so much that they can do to help their child have a great life. Some parents do not find out until their son is much older and are not able to help them lead the best life possible nor are they able to understand why they had certain problems growing up. This was my case, my parents never knew why I acted so terribly while I was growing up. Those of you finding out now - can help. You can make a difference.

Parents typically ask me what is the right time to tell their son about KS and its problems. This is very hard for me to answer since I was diagnosed later in life. My best advice is from my heart and the way I felt growing up. It is to tell them that their son probably already knows that he is different and that something is wrong. I knew from probably as early as five years old that something was different about myself. I had a feeling in my gut that I tried to let go of, but it always followed me around.

I expect that parents and adult KSíers are looking for initially is some compassion and sympathy, two things that were not given to me after my diagnosis. I expect theyíll also be looking for confirmation and some, especially the parents awaiting the birth of their son, will be trying to decide if they should abort the pregnancy. Currently, the abort rate for parents finding out prenatally is much higher than it should be. It doesnít need to be this way and shouldnít be. KS isnít something that should be dreaded, look at what Iíve described about myself. If any parents are reading this and are trying to decide what to do because your son who will be born has KS, I urge you to get the correct facts and information before making a decision. In my opinion though, in 1998, I believe that aborting a KS baby is wrong.

I am here, willing to talk to anyone, both one-on-one and in a group situation about KS and my life living with it. I am willing to talk to you via e-mail, snail mail letters, on the telephone or in person.  As you can see, I am not shy about having and dealing with KS. I have lived a very good life and will continue to, regardless of the fact that I was diagnosed with KS. I have had most all of the symptoms at some time in my life and Iíve gotten through and done well. Iíve done what I needed to do to succeed. I never wanted help after high school because I always believed I could succeed on my own. I just consider myself someone who has survived, gotten by and care about helping others survive KS.

Updated February 2000:

Since initially writing "my story" in the spring of 1997 (with a few changes since then), I have found that many aspects of my life have changed and become more focused.  A group that started with one other person and as of February 2000, now supports 150-200 families in New England.  Over the past four years I have been involved primarily with education and support.  In addition to starting and running these groups, I also enjoy talking to those who have this condition.  I enjoy talking to people about this syndrome, whether family members or the KS'er or a medical professional or whomever.  In addition to the aspects of support that I have already mentioned, I educate the public on Klinefelter Syndrome every chance I get through local, regional and national media outlets as well as conferences and speaking engagements.  I have done television news interviews and am involved in helping with other genetic organizations around the country.  About two years ago, I wrote and helped produce a basic medical videotape on living with Klinefelter Syndrome.  This videotape has helped to educate the general public and especially the medical professionals that do not have much information on Klinefelter Syndrome.

My work with this condition is because of my diagnosis.  It is not my full-time paying job, although does take up a significant amount of my free time as it is essentially a full-time non-paying, but extremely rewarding position.  I take a lot of pride in helping those that are recently diagnosed or just need support.  In February 1998, I published this website about Klinefelter Syndrome, which I maintain regularly.

My full time paying position has actually helped me open up other doors with regards to my volunteer positions with the Klinefelter Syndrome network.  I currently work as a software quality engineer for Iris Associates.  Iris Associates is the company that does software engineering for Lotus Notes.  Iris is a subsidiary of Lotus, owned by IBM.  I worked for Iris from October 1998 through April 2000 and have been working in software quality engineering for the past four years.

My volunteer positions within the Klinefelter network have been numerous since I first stepped in to lead my first support group meeting in November 1996.  I have been a support group leader and regional coordinator with Klinefelter Syndrome & Associates (KS&A).  In July 1998, I received the 1998 Aylstock award for outstanding performance in providing Knowledge, Support & Advocacy.  At that time I was asked to be the national Klinefelter Syndrome conference chairperson for the 1999 conference, which was held July 1999 in Baltimore, Maryland.  Currently I serve as an advisor for AAKSIS (American Association for Klinefelter Information and Support), as well as being an Education and Support Director for the Klinefelter Educational Support Team (K.E.S.T.).

Through my work with Klinefelter Syndrome, I had an opportunity to meet someone very special.  The person Iím referring to is my fiancť.  I met Chris, my fiancť, while working for KS&A at a speech and language conference for Klinefelter Syndrome.  She helped to provide information to the speech and language professionals at that conference.  Chrisí son has the same condition that I do.  In addition to her six year old son, she has a three year old daughter.  An instant family!  My fiancť lives in Northeastern Pennsylvania and I will soon relocate closer to her from the Boston area where I currently live.

Updated February 2002:

There have been an incredible amount of changes in my life since February 2000 and it was time to give you an update on my life since the last update.

In April 2000, I made the move to Walnutport, which is in the northeastern part of Pennsylvania.  I moved in with Chris, her two beautiful children and her Siberian Husky, Lacey.  I left the software development company I was working for when I moved to be with my new family.  I spent the first three and a half months looking for a new job after moving to the new area.  I found that the job market down here was much different from the Boston area.  During the time searching for my new position, I got used to the area and in living with my fiancť, her children and the dog.  It was a challenge getting used to living with a family, but I eventually got used to the day to day and am happy that I moved down here when I did.

I worked for two software development companies from August 2000 through September 2001 in quality assurance testing and as a support specialist.  In September 2001, I found out that my division at work was being eliminated due to downsizing and that I would be out of a job.  I knew it would be difficult to find another job in the same field in our area so I decided I would work towards my dreams and future goals of working with Klinefelter Syndrome/XXY for the rest of my life.

In November 2000, Chris and I selected a date for our wedding, which was set for October 7, 2001 in Baltimore, Maryland.  We selected a fun location called Port Discovery Childrenís Museum, as we wanted our kids to be an integral part in the wedding ceremony and we knew that they would have fun playing on the climbing structure.  Throughout 2001, I continued working in software engineering and we became closer as a couple and as a family.  It was truly a dream come true for all of us!

Chris and I continued to work with the Klinefelter Syndrome population because of how we met and what we wanted to accomplish both for us, our XXY son and others like us that had little or no information when the diagnosis came through.  In addition, I again was co-chair of a national Klinefelter Syndrome conference with my mother, Penny Schwarz.  We chaired the 2001 AAKSIS national conference, which was held in Philadelphia, Pennsylvania in August 2001, and was a great success.  It was at that conference where I was nominated and elected as the Vice President for Membership for the organization.  A position which would allow me to work with people and help to increase membership for the organization.

On October 7, 2001, Chris, Jimmy, Sammy and I got married at Port Discovery in Baltimore, Maryland.  It was a wonderful celebration and at the time of our marriage, I had been living with them as a family for 18 months.  Our ceremony included special segments that allowed the kids to be a part of it, since they are a very special aspect of the marriage and family. My dream of being married to the most wonderful woman in the world and two very special children was finally a reality!

Now, just four months since our wedding, things are going very well with our family life and relationship.  We have definitely had challenges through health and work issues that have been going on since just before Christmas 2001.  We realize that everything will be okay because we have each other and a very strong foundation with excellent communication and we know that those are the keys to a successful marriage.

Through the health and work issues, I realized that it was important to get a support group going in this region, since there was a need and people wanted it.  I have taken a few different approaches to getting this group off of the ground, as opposed to past groups that I either started or helped to get going.  Chris has helped me immensely and we are once again a team in getting this group up and running.  The first Lehigh Valley Klinefelter Syndrome Support Group meeting will be held on Saturday, April 6, 2002 and more information can be found at Lehigh Valley Klinefelter Support Group.  In getting this group started, I have realized where my goals have always been with the Klinefelter community and I have seen some recent changes that I did not like.  The changes caused me to rethink things and I decided to resign from the AAKSIS board of directors in February 2002.  I will be able to continue focusing on continuing to help anyone and everyone in need of support and education.

Updated February 2003:

There have been a lot of changes since I updated my story a year ago in February 2002.  Many good things have occurred, although it has been a difficult year with health issues impeding our daily routines.  Over the past year there have been many changes highlighted by a new job and a move from Walnutport, Pennsylvania to Fairfax, Virginia.

When I updated my story in February 2002, I was living in Walnutport, Pennsylvania and had been laid off by the computer company I was working with during the prior year.  I was out of work from September 28, 2002 through July 17, 2003.  While I was looking for a new job, I spent a lot of time at home with my step-children and working around the house and essentially being Mr. Mom.  I enjoyed the quality time I got to spend with the kids and to enrich their lives.

I noted in the last update that I was planning to have a support group meeting for the Lehigh Valley of Pennsylvania in April 2002.  The support group meeting took place on Saturday, April 6, 2002 and was an immediate success.  We had 54 people in attendance and 23 of us were XXY or a variant thereof.  The meeting lasted four hours and much of it was talking and answering questions and supporting each other.  By the end of the meeting, it was evident that a support group was needed regularly in that area of the country.

I also indicated that I had recently resigned from the board of directors of the organization AAKSIS.  A year later, I ponder about my decision and do not regret it at all.  I have been much happier and less stressed out.

In May 2002, I received an e-mail from a mom who son had a variant of Klinefelter Syndrome, 49xxxxy.  When she first wrote me, she told me that we had similar backgrounds in working in the computer field.  My natural instinct, since I had then been out of work for 8 months was to ask if her company was hiring.  They were and they had a position that mirrored my background.  Shortly after I submitted my resume, received a telephone call saying they were interested in me and scheduled an interview.  I interviewed just after Memorial Day in 2002.  About a week later, I received an offer and starting working there July 17, 2002.

However, the job was in another state, four hours away from where we were living.  I had a tough choice and had to sit down and think about things with Chris.  Before I made the decision to start at this job, I had to think about my family and uprooting them to another state away from their friends.  I thought long and hard and pondered the pros and cons of a move of this magnitude.  I also thought about my current job prospects in Pennsylvania and whether things would improve and what would happen if they did not.

On July, 17, 2002, I began my new job and with it came a 230 mile commute (each way), that I did once a week or once every other week.  It was very grueling!

About a month after I began, we started looking for new homes in a suburb of Washington, DC.  I was somewhat familiar with the area from growing up in Baltimore, Maryland and living there for 23 years.  What we found were some very expensive housing prices, much higher than in Pennsylvania.  In September 2002, we found our house.  We settled in November 2002 and moved on November 22, 2002.

What we have found since we moved is that our kids are happy.  They have many more friends and lots of things to do.  Schools are better and we are able to get better services for Jimmy.   Chris is very happy being closer to her sister (who lives only three miles away) and she only has to work part time here.  Iím doing well, enjoying my new job.  Iím still working as a software quality engineer, just in a different type of environment than I previously have been.

On the Klinefelter front, Iím glad to be back in an area where I started.  I attended my first support group meeting in Silver Spring, Maryland with Dave Wright.  Dave still runs the group down here and Iíll be helping him out with it.  I look forward to getting together and sharing with the many Klinefelter adults and families in the Northern Va., DC and Maryland areas and I look forward to meeting the many others yet to be diagnosed.  The group in the Lehigh Valley has been left in able hands and Chris and I look forward to attending future meetings in that area.

Updated July 2005:

I have been lax with updating this section due in part of being tremendously busy, but also because I have started a new Klinefelter project which will make a huge difference to all who have and are being diagnosed with this genetic condition.

The project which has taken much of my time is a writing project. More specifically, I am writing a biography about living with Klinefelter Syndrome both before and after my diagnosis.  It will detail my life, some of which is detailed in ďmy story,Ē and will describe where I have been.  The book project is a long one and takes a lot of time.  If there is one big reason I have not updated the site, it is because of the book.

In addition to the book project, I am still living with my family in Fairfax, Virginia and still working for the same company in Quality Control.  I enjoy what I do during the day and take pride in producing quality work for those utilizing these applications.  The kids are doing great and love being in Virginia because there is so much to do!  Unfortunately, we found shortly after my last update, that services in the schools in our area arenít quite as good as we realized and actually we feel the kids were getting a better rounded education in Pennsylvania.  We attend regular IEP meetings for Jimmy and fight for his needs on a regular basis.  Both Jimmy and Samantha participate in Tae Kwon Do.  Jimmy is a brown-stripe and only needs to achieve one more belt before he can test for his black belt.  Samantha is a blue-stripe and is rapidly catching up to her brother.  Samantha also participate in gymnastics and really enjoys running around like a nut!  Chris is now working as a dialysis nurse again, similarly to what she was doing in Pennsylvania before we moved to Virginia.  She loves being back in this field and missed it in the two years while working in a different area of nursing.

In August 2003, I had surgery to hopefully cure my Obstructive Sleep Apnea.  This was diagnosed in January 2002 and was getting progressively worse.  It was decided I would enter the hospital and have UPPP (Uvulopalatopharyngoplasty) surgery.  After being sore and in pain for a couple of weeks, I recovered and went back to work.  Both Chris and I immediately noticed an improvement in my sleep and I could tell there was a major improvement as I was not as sleepy during the daytime hours.

With regards to Klinefelter Syndrome, I am still as active as ever working with the national organizations, specifically KS&A.  At the 2003 national KS&A Pediatric and Adolescent conference in Cleveland, Ohio, I was asked to speak about my life and give a talk with another member of the Klinefelter community.  It was shortly after that when I was asked to take on a role as a Pediatric Program Coordinator and work with other program coordinators taking over other segments of the population, as Melissa Aylstock of KS&A was stepping down as executive director.  The organization was now being restructured.  My name came up as heading the pediatric program and after thorough discussions, I gladly accepted that role.  In October 2003, I was appointed Pediatric Program Coordinator for KS&A.  Between October 2003 and the end of 2003, program coordinators were named for the Adolescent and Adult populations, as well as for those individuals who have XYY and XXX genetic signatures.  The five of us would be working together along with the new executive director and the board of directors.  Things really began to take shape with the new roles and the organization during the first six months of 2004.

In July 2004, the 2nd KS&A Pediatric and Adolescent conference in Kansas City, Missouri went off without a hitch.  It was a conference planned primarily by the Adolescent program coordinator and other helpers.  The conference was a success and many attendees went home happy armed with information to help their sonís.

In August 2004, I decided to restart my book project, a project which I began seven years before, in 1997, just a year or so after my diagnosis.  However, at that time I was not ready to take on a project with such magnitude, nor had I experienced enough with Klinefelter Syndrome to write such a book.  Now it was time and I was ready to start writing.  I started off like a house of fire, but quickly slowed down due to lack of time with my day job, family and program coordinator responsibilities with the organization. 

In February 2005, I decided to step down as Pediatric program coordinator, as I had solidified the position and really helped to shape the reorganization process.  In stepping down from that position, I helped to create a new program coordinator position for variants, a portion of the population which had been left out.  So I stepped away from a very busy and active position, to one that would still be tremendously helping the population, but would not be nearly as busy as Pediatric.  It was a good way to continue helping the organization, however taking a less active role.  By taking the less active role, it allowed me to really get moving on my book project to make it happen and complete it.

As of July 2005, I have completed a couple hundred pages and am working diligently almost every day.  I expect to continue working and will continue to provide updates as possible.  When the book has been completed and is published, there will be ordering information on my site for your convenience.

Please feel free to contact me at the below e-mail address or voicemail telephone number.  Please be aware that the toll-free voicemail number does not ring in my home and goes directly to a voice mailbox and I pick it up later.  I will be back in touch as quickly as possible and we can arrange a time to talk on the telephone, or, if you are close enough, an in-person meeting.  Both Chris and I are here to help in any way we can.

Please contact me through my e-mail address at: sschwarz13@gmail.com if you wish to discuss Klinefelter Syndrome or anything else. If you would like to speak via telephone, we can arrange to do that when feasible.  My toll-free telephone number is no longer operational, due to cost and time.  If you would like to get additional information, you can contact me through the above e-mail address.  If you are looking for support group specific materials, please go back to the main home page of this website and view the support groups of your choice.  Please feel free to contact me at any time.
 
 


March 2001 - 31 years old
Stefan & Chris


July 1999
29 years old

 1971 - 1 year old

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Last updated on November 12, 2015