My diagnosis of Klinefelter syndrome came as a complete shock when I was undergoing fertility investigations during my mid-thirties.
I was handed the double diagnosis of Klinefelter syndrome and infertility at the same time. After the initial shock of realising I would be unable to father children with my own sperm, I spent a few years getting to know more about Klinefelter syndrome, which is found in about one in 600 live births and is caused by the presence of one or more additional sex chromosomes.
Klinefelter Syndrome is diagnosed by a genetic blood test that identifies the karyotype, meaning the number, size and shape of the chromosomes. People sometimes display physical features of the condition too. However, to many people these characteristics do not automatically connect if there is no prior knowledge of the condition!
SYMPTOMS OF KLINEFELTER SYNDROME
It is really important to recognise that Klinefelter Syndrome is a spectrum condition; not all patients experience the same symptoms and the level of severity varies significantly.
It is believed that for many the symptoms are so mild that up to 75% are never diagnosed! For me personally, throughout my childhood and adult life prior to diagnosis, the common features that were not recognised as being part of a condition were:
At 6’4, I was unusually tall for my family, but my dad is only a little bit shorter than me so my height didn’t seem that significant.
Despite being highly active (seen sea swimming and mountain biking), I have always struggled with trying to achieve a healthy weight. I have for many years been overweight despite frequent exercise, healthy eating and significant sporting achievement, including completing marathon swims (10K) on five occasions and numerous cycling events over the years. I’ve completed the British Heart Foundation London to Brighton cycling events 15 times.
YOUNG APPEARANCE AND INFREQUENT SHAVING
For many years I had a very young appearance and only shaved about once per month. I would often get mistaken for being half my actual age. In fact, I have a picture taken on a boat whilst scuba diving in the Indian Ocean where I look much younger than my then late 20’s.
LACK OF ASSERTIVENESS, SELF-CONFIDENCE AND ‘MIND OVERLOAD’
I wasn’t conscious of it at the time and it has taken me a few years and encouragement from those close to me for me to recognise that in my earlier years, despite outwardly appearing to be strong and confident, I did lack assertiveness.
I often ‘just went along with things’ simply because that was the easiest course of action. Due to this, sometimes I would end up doing things I didn’t particularly want to be doing! The mind overload or as some would describe as ‘brain fog’ can affect people living with Klinefelter syndrome in so many ways. For some, it feels like having a busy mind is a constant burden with lots going on and lots to try to remember. This can result in difficulty remembering things, difficulty functioning, saying things that might seem silly to others, possibly having some degree of learning difficulties. Some people living with Klinefelter syndrome feel like in certain social settings, they don’t fit and this can include challenges with employment. It is no coincidence that many choose careers that involve lone working or in smaller teams!
I often say that men have no reason to question the size of their testicles unless they have something to compare them with! For me I was rather unaware of the small size of my testicles until I was examined medically and only then did I gradually become aware that they are considerably smaller than other men’s.
FATIGUE / UNEXPLAINED BOUTS OF TIREDNESS
Prior to understanding the connection with my diagnosis, I was acutely aware of my ability to fall asleep anywhere. I would frequently fall asleep whilst on nights out with friends, when relaxing at home, when visiting friends in their own homes. On several occasions, I would go to my friends’ downstairs bathroom with the excuse that my contact lenses were uncomfortable to have a quick nap whilst leaning against the bathroom wall. Thankfully, testosterone treatment can help reduce this and has helped my situation.
The most common form of treatment for our condition is testosterone replacement therapy, TRT, or as it is known in our community, simply as T. Not all patients need it and its use requires monitoring.
Testosterone has a reputation for causing anger and this can cause concerning expectations, apprehension and anxiety in both patients and their loved ones. However, many people living with Klinefelter syndrome say that T has actually had a calming effect, reduced anxiety and helped to clear the brain fog.
The Klinefelter’s Syndrome Association (KSA) charity has been established for 30 years, providing support to patients and their families whilst raising awareness of our condition in the medical professions. They have an excellent website and are continuously working to help people affected by Klinefelter syndrome. I was a former trustee of the charity but I decided that my energies would be better used helping people on a one-to-one basis.
I am now recognised by the KSA as a Klinefelter’s Syndrome Ambassador. I run several Facebook secret support groups – secret because of the stigmas attached to male infertility and Klinefelter syndrome; not everyone is open with their diagnosis.
I have been involved in a number of articles and podcasts to help raise awareness and I work on a voluntary basis with the Guy’s and St Thomas’ Klinefelter Syndrome Clinic. I’m always happy to chat to people about our condition, I can be contacted via the KSA’s main Facebook page.