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Living with Klinefelter Syndrome: Part 5

After receiving my diagnosis, I was initially angry and frustrated and confused as to why it took so long for it to happen.  I was angry at the world for a week or two because I wondered, why me?!?  I was engaged at the time of my diagnosis.  We had been together for three years and planned to have children and a family and be together forever.  Based on past friendships, I continued trying to make things work even though I had now received my Klinefelter Syndrome diagnosis.  We were together on and off for another couple of years, but by 1998, I broke off our relationship, citing a need to meet and see other people.

After the first couple weeks, I began to accept the diagnosis, move forward, learn about the condition, look into myself, and see what would have helped me and been different if a diagnosis had occurred earlier, say, in my mid-teens or earlier.  I started taking testosterone therapy about 6 weeks after my diagnosis occurred.

I was my primary care physician’s first diagnosis in his 20 years of practice. He only looked at my testicles during previous visits to ensure I had two, not to look at the size. I opted to find a specialist to continue my care.  My primary physician wasn’t looking to determine the size of my testicles until I came in with other symptoms. He wanted to check their size more thoroughly, which led to other tests and my diagnosis.  I then decided it was better for me to see an expert about the condition for a more thorough evaluation.

I scheduled an appointment at Johns Hopkins with a top endocrinologist. She had been studying this condition for a number of years and had even worked with Dr. Harry Klinefelter before his death. This endocrinologist was extremely thorough and explained the condition and treatment options.  We decided I should start on the Androderm patches, which were large, circular patches that delivered 7.5 mg of testosterone over the course of 24 hours.  However, the patches did not agree with my skin and caused painful reactions.  

I quickly determined this testosterone delivery method would not work for me. Then returned to my endocrinologist and met with her nurse, who taught me how to self-inject testosterone into a deep muscle.  I’ve been injecting myself ever since and started roughly in April 1996.  Between April 1996 and September 2019, I have given over 800 Intramuscular (IM) injections.  

In early June 2018, I began seeing the same endocrinologist at Johns Hopkins again. She felt I should begin self-injecting a subcutaneous injection of smaller testosterone weekly.  Though I wasn’t sure it was the best course of action, I followed her recommendation, and it has been going well. 

In May 2019, my urologist became the one handling my testosterone maintenance, and he switched me back to IM injections weekly.  However, I quickly found I couldn’t make it for the full week. So I suggested to the urologist to continue doing weekly 1/2 cc injections but to do an IM injection and then do a subcutaneous injection the following week.  So far, that is working quite well for me.

At the time of my diagnosis, few types of testosterone therapy were available.  Now in 2019, there are long and short-acting testosterone injections, patches, various types of gel available, and a sublingual pill placed inside your cheek and dissolved.  Some pellets are surgically placed into a delivery mechanism under the skin, and they slowly get used over a 6-month period before more pellets are surgically implanted into the device again. All of the methods I’ve listed are available in the USA. I have a specific page that discusses various types of testosterone therapy.

There are a few additional types of Hormone Replacement Therapy (HRT) available outside of the USA, which include oral medication.  Clarus pharmaceutical company was approved by the FDA (Food and Drug Administration) to produce a new oral medication, Jatenzo, that does not pass through the liver and is a viable medication for those who aren’t able to use the alternatives.

The usual age to start the treatment is around 11-13 years old. The later one starts hormone replacement therapy; the more problems 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 Hormone Replacement Therapy until later in life.

It would have been great if I could have discovered Klinefelter Syndrome and started on testosterone about 10 years earlier, in my mid-teens. However, there is no guarantee that the symptoms I described earlier would have helped even with the onset of an average 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.

Three months after my diagnosis, learning about the condition, and being on testosterone therapy, I attended my first regional support group meeting.  It was truly eye-opening! I met the support group organizer in person after speaking with him moments after receiving the diagnosis by phone and two other adult men with the condition.  Being in a room with others who had a similar variant of the condition was incredible.  Meeting families with children and a world-renowned physician with extensive knowledge about genetic conditions were beneficial. Though I was nervous and still shy and reserved, I went into the meeting and had an excellent time interacting with everyone I met.

After my diagnosis, starting on testosterone therapy, and attending my first support group meeting, my life quickly started to take shape.  I was getting out of my introverted shell, which had gotten me through my first 25 years.  The days of disappearing into a crowd and taking an absence in a two-and-a-half-hour college class because I was too afraid to come up to the board to answer questions orally in front of my class were over!  I was finally ready to move on to bigger and better things.

Stefan skiing in Cortina, Italy in March 2001Four months after my diagnosis and about a month after that support group meeting, I found a position as a Software Quality Engineer near Boston, Massachusetts.  I connected through a relative to his friend and interviewed and was hired for my first real job after completing my Bachelor’s degree.  Though it was my first “real” job after college, I had been working part-time since I was 14 in various legal offices, a deli, a fast-food restaurant, and a chamber of commerce, and I had started my own typing service side business in 1989. I continued my business throughout college, just as I started my first “real” job after college.

I wasn’t sure how I would enjoy being a Software Quality Engineer, but I knew I would learn a lot and have some on-the-job training since this was not part of my field of study.  However, I have always been involved and interested in computers, and this job was right up my alley.  Plus, having a typing service involves being heavily detailed oriented, which is also a plus when dealing with quality control and engineering.

It was also during this short period of time since my diagnosis when my mother had been diagnosed with a non-cancerous but aggressive brain tumor, a cousin was also diagnosed with a malignant form of cancer, and I was now dealing with both of those personal things while learning about my Klinefelter Syndrome/XXY diagnosis.  Before starting on testosterone therapy, any of those things would have sent my life into a tailspin, but now I could deal with all three and work to move forward in my life.  Things had undoubtedly taken shape with this diagnosis quickly, and I was taking my life into my own hands.

I accepted the job offer near Boston, Massachusetts, and found an apartment to rent near my new job in July 1996, moved, and set out on my own.  Though I matured quickly with a combination of my testosterone and having to negotiate to be entirely on my own, I felt good about my life at the end of the day.  I did determine that I was still in need of Klinefelter Syndrome support.  At the time, I knew of only one other adult with the condition in my new area.  There wasn’t a support group or network in the area, as there had been in Silver Spring, Maryland.

Continued in Part 6: Living with Klinefelter Syndrome

Back to Part 4

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