Wednesday, January 24, 2007

Houston, We Have a Problem

When visiting the doctor to discover the cause or origin of an infirmity, people want substantive answers replete with detailed explanations. Most of us don't want a diagnosis based on the flip of a coin or where a dart lands on a dartboard. Another answer that is rarely desired is for the doctor to shrug her/his shoulders and say, "Beats me".

A few years back, my doctor gave me a somewhat similar explanation. He put his arm around my shoulder and said, "Trey, my friend, you weren't put together very well".

During different periods of my life I have launched into a series of medical tests to try to ascertain what are the causative factors in a variety of symptoms I possess. I've visited with numerous medical professionals with complicated titles almost always ending in "ist".

For my first 30 years, more often than not, my conditions were consistently misdiagnosed. The only afflictions that were diagnosed correctly the first time around were flat feet and Perthes Disease.

Beginning around the age of 18, I started experiencing problems that mimicked Bipolar Disorder. I exhibited the characteristic moods swings from the highest highs to the lowest lows. For the next 15 years, several doctors assumed I had Bipolar Disorder or some derivation thereof.

My symptoms began to accelerate in my early 30s. My low periods were becoming far more serious with extended bouts of depression and some limited periods of suicidal thoughts. At one juncture, I thought of checking myself into an in-patient center and to begin lithium therapy.

Most fortunately, my mother intervened and sent me off for another round of medical tests. After one doctor ordered a very expensive hormonal test, it was quickly discovered that I had Klinefelter Syndrome (KS) -- My 23rd chromosome is XXY, not XY.

KS occurs in approximately 1 out of every 500 male births and it affects different males in different ways, though infertility is universal. The main characteristic is the body's inability to produce adequate amounts of testosterone, the primary hormone that makes a fellow male.

As one doctor explained it to me early on, imagine you're in a good sized lake. While most males have no trouble at all swimming from shore to shore, the male with KS can only muster the metabolic energy to tread water.

You struggle to keep your head above the water line. After awhile, you run out of energy and plummet to the bottom of the lake. You then use all of your available energy to claw your way back to the surface, but that's as far as you get and the cycle starts anew.

In some ways, it's easy to understand why my condition was misdiagnosed for more than a decade. The metabolic pattern of highs and lows seems quite similar to the Bipolar pattern of mania to depression. That said, the difference between the two was easily borne out by a simple blood test. Why didn't ANY of my previous doctors order such a test?

I'm posting this here today for any of my visitors who come to this blog utilizing the search term "Klinefelter Syndrome". I want you to know that you're not alone and that there are hormonal therapies that can change your life in a variety of beneficial ways.

Most importantly, I want to underscore the importance of obtaining the correct medical tests. Whether you suffer from KS or another condition, proper testing often is the key to a correct diagnosis and the ability to turn a negative infirmity into a positive and fulfilling life.

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