Klinefelter’s syndrome – A personal story to support others

During my mid 30’s my ex-wife and I attempted to start our own family. After a few months of trying with no success at all, we approached the local healthcare provider which fairly promptly led to the double diagnosis of Klinefelter’s Syndrome (KS) and male infertility. Both came as a complete shock and were initially met with some disbelief. A relatively simple karyotype blood test confirmed that I have XXY chromosomes, KS. A sperm test revealed that I am infertile.

 In broader cases of infertility, it is that sperm exists, but the carrier tubes may not be effective. In the case of KS, patients have non-obstructive azoospermia or put simply, it isn’t that there is a blockage in the tubes; the patient does not produce enough viable sperm to achieve pregnancy without surgical assistance.
When I was diagnosed in 2009, the surgical sperm investigation method was

not as advanced as it is today. My TESE (testicular sperm extraction) operation resulted in no sperm being found, and this news was given in a rather blunt fashion as I lay in my hospital bed post operation. Fast-forward 10 years and nowadays patients can take drugs that promote healthy sperm production which may facilitate the retrieval of sperm through the latest technique which is called Micro-TESE. It must be highlighted that the drugs are expensive, usually self-funded by the patient and there is no guarantee of success. In fact, there are very few documented successful cases within the UK. The situation is constantly evolving, and I look forward with hope to a time when we can have greater confidence in the success rates.

Interestingly, in the clinical world the definition of success is often associated with the retrieval of sperm from an azoospermic patient rather than meaning the success of achieving a pregnancy and a baby. I believe this is partly why many couples are given false hope that the surgical sperm retrieval may be successful; it may be that sperm is found but no successful pregnancy follows.
The well-established Klinefelter’s Syndrome Association charity was and still is a major lifeline and source of support for patients, particularly the newly diagnosed, their partners and the parents of children and young people with KS. Set up almost 30 years ago by the parents of a young KS child, the charity has accumulated many years of experience through providing support and hope to hundreds of families. The charity has two primary aims; to support patients and to raise awareness of the condition within the medical professions.
Although the charity does provide excellent support including informal opportunities to meet and build friendships with other people affected, at the time of my unsuccessful search for sperm peer support was limited. Many patients are given the double diagnosis of KS and infertility and then left to pick up the pieces. Even in 2019 this practice seems to continue.

A frustrated man with Klinefelter's syndrome

This is partly what motivated me to set up and run a number of secret Facebook support groups which are now thriving support communities. As there is a stigma attached to both KS and infertility, the groups are secret status which means that they are not visible to members’ friends on Facebook. Privacy is maintained without the intrusive nature of others finding out about the diagnosis and asking questions. 
Discussing infertility with friends and family can be difficult and awkward. I think many people experience extreme discomfort when they are told of someone else’s infertility. They often don’t know how to respond in a supportive manner. A common response is asking whether adoption has been considered. Whilst this may be a positive solution for the future, shortly after receiving the news that they will be unable to biologically father a child, mentioning adoption can seem rather callous and unhelpful. Of course, there are a lot of happy families that have originated with adoption. However, the way infertility is discussed in the early days after a diagnosis can be a very fragile and sensitive time. Indeed, this fragility can continue for years after a diagnosis.
Unfortunately, my infertility diagnosis led to the end of my 12-year marriage. My ex-wife found her own solution to the problem of my infertility. This led to a complete turn-around in my life.

One of the main impacts of KS is low testosterone. For many patients, hormone replacement therapy is prescribed as treatment and for men, this is Testosterone. For me, the treatment had many positive effects including increasing my assertiveness in a constructive manner. I am now happier, mentally and physically stronger, and frankly a more capable human being.
For many, infertility cannot be resolved through surgical sperm retrieval because success rates are still very low. Some adopt, some use donor sperm, some meet partners that already have children, and some decide not to have children. This is very challenging but these days there is a great deal of support available from the charity through the website and social media-based support groups.

Two men talking about Klinefelter's syndrome

It is important to recognise that KS is a spectrum condition. Not all patients experience the same symptoms, and the level of severity varies. You are welcome to visit the Klinefelter’s Syndrome Association website to learn more about the condition – in particular common symptoms and health issues.
The mental impact of the double diagnosis of KS and infertility must not be underestimated. The impact can cause severe anxiety and discomfort in both parties within a relationship. Both require the support of others and importantly, the support of each other. Whilst limited professional help is available to gain a true understanding of the impact of the condition, the peer groups provide an excellent vehicle to achieve a greater understanding. At the same time, the possibility to connect with others who have relatable experience, sympathetic approach and the ability to support and signpost others.
You can read more about the Klinefelter Syndrome in this article

My professional role is Fire Safety Trainer & Department Manager within the UK Fire Service. I have been in role for nearly 20 years. Outside of work I am a supporter of the Klinefelter’s Syndrome international community.
Raj Baksi