Living with KS

WHAT IS KLINEFELTER SYNDROME?

KLINEFELTER is one of the more common chromosome genetic diseases, with estimates of around one in every 600 new-born males. It can be picked up through amniocentesis but is more likely diagnosed in later life through a genetic blood test and often because of fertility issues.

Genetically, men are born XY and women are XX. In Klinefelter, men are born XXY, meaning there is an extra X chromosome. Klinefelter is often referred to as 47, XXY or KS.

KS is not inherited and there is currently no known cause.

It is a lifelong genetic illness that cannot be cured and is linked very closely to significant mental health, autism spectrum disorders including behavioural problems and developmental issues, as well as illnesses such as type 2 diabetes, autoimmune disorders such as lupus, infertility, weak and fragile bones, cardiovascular disease, and blood clots. As such, it is extremely important that a diagnosis is made as early as possible to prevent, or at least treat, such illnesses so that a KS sufferer can have a good quality of life.

GUERNSEY STATISTICS

Based on January 2022 data, there could be as many as 52 boys/men in Guernsey with KS. As of the date of this article, I am aware of only two others who have received a diagnosis.

WHEN WAS I DIAGNOSED?

I was always a tall child and in 2008, aged 13, I developed scoliosis, as well as some other strange but relatively minor symptoms. I was referred to the paediatrician at the Medical Specialist Group, who suspected an underlying genetic condition called Marfan syndrome. A genetic blood test in fact identified KS and I was referred to the geneticist at Southampton Hospital as the paediatrician had no knowledge or experience of KS. I continued to make regular visits to the geneticist at Southampton Hospital until I was 16.

HOW DID/DOES IT AFFECT ME?

When I was a baby it took me longer to talk, my speech, motor skills and balance were delayed by at least a year. Language, motor, emotional and IQ development are often delayed in KS.

When I was at school I struggled with attention span and study and it was clear I needed support, which my parents arranged through private tutoring.

My body is unable to produce testosterone and I must take testosterone therapy for the rest of my life to prevent several other illnesses that can be caused by KS.

I suffer from a few of the illnesses mentioned above, and I am also a very emotional person. What could make someone upset is generally magnified for me. It is hard for me to express my emotions and I often struggle in my relationships with family, friends and partners.

Quite often I have the answer or what I want to say in my head, but I stumble when trying to verbalise or express myself. When verbalising I tend to say the opposite of what I am thinking in my head.

I suffer with anxiety and depression that comes in waves and can be all-consuming. A lot of my anxiety and depression is external and even with medical intervention, the struggles are masked rather than solved.

I struggle with remembering recent conversations and social situations.

I have had trouble holding down jobs as I get stressed very easily and it is hard for me to deal with stress.

KS GENERALLY

There is often difficulty with understanding the nuances of social behaviour as well as with self-expression, especially when under pressure.

KS sufferers also have difficulty in processing information, especially if given verbally or via text.

They struggle with significant issues around self-confidence and, if undiagnosed, may go for many years not realising they have an illness. This is often exacerbated by frequent visits to doctors who prescribe medication to ‘mask’ the undiagnosed illness.

KS sufferers are more likely to get into trouble due to developmental issues and problems with short-term memory which can be seen as being obstructive and rude.

POSITIVE TRAITS FOR PEOPLE WITH XXY

• Photographic memory – the ability to recall how a picture is laid out in front of you once taken away. Some can recall pages of text, numbers or similar in detail.

• Hands-on learning – kinaesthetic learning allows people to experiment with trial and error and learn from their mistakes. The process of learning by doing. Hands-on activities should mimic real-world scenarios as much as possible for effectiveness.

• Long-term memory – able to store information from events in our lives and remember them like it was yesterday in detail.

• Musically inclined – can pick up learning a musical instrument quickly without needing to read music. Having a natural talent.

• Sensitive – we notice the details, detect slight changes in the environment and in people and care about people’s feelings. We take time to absorb and process the information given, rather than rushing to a decision.

• Emotional – some people are highly sensitive emotionally to their own feelings and feel things very deeply.

• Compassionate – feeling and showing sympathy and concern for others. Spending your own time and money to help people is the core of what it is to have XXY.

• Vivid imaginations – the ability to let our mind be creative or resourceful. To be able to think without lines or barriers, anything is possible in the mind.

• Creative artists – having the ability or power to create. Originality of thought or inventiveness. Skills and talent to create fine works of art or the skill and talent to use our imagination to create and solve puzzles.

• I am good at seeing small and important changes or things in an environment or situation that other people might not notice.

• Inquisitive.

HAVE I HAD SUPPORT LOCALLY?

In the UK and other countries, KS is classed as a disability and therefore subject to financial and other medical support.

Locally it is not recognised as a disability and the support and understanding of the medical profession is very poor, which is why I want to raise awareness. I have had to describe the basics of what KS is to various doctors and give them websites to research more into what it is as they do not have any idea.

In the UK there are various charities for men with KS, notably the Klinefelter’s Syndrome Association, who do meet-ups in various towns. They also host weekly meetings online on Mondays. The association has provided previous employers of mine with information on KS, but that hasn’t always been taken on board.

I have tried to seek support for my mental health from a number of charities but when I mentioned my KS, which has traits of autism spectrum disorder, I was told that they could not help me and I should seek other options from my doctor.

In the meantime, I await support from anyone locally who can point me in the right direction.

WHAT AM I HOPING TO HAPPEN IN GUERNSEY?

I am hoping to create a Guernsey KS/XXY support group which will benefit boys and men with this condition. I want to focus on the positives of what KS/XXY can bring as there are an abundance of negatives and, while they are true and not far-fetched, we who have KS also have many positives which we can bring to other people’s lives, our own and work.

In the future I want to create a Guernsey genetics group, which will involve many other genetic conditions as many symptoms cross over with other genetic disorders and mental health and physical health and support can be interlinked.

WHAT WOULD I SAY TO ADVISE SOMEONE WHO THINKS THEY HAVE THIS CONDITION?

The official statistic for diagnosing Klinefelter syndrome is as low as 25%. Many boys/men will go through life without ever knowing – they will realise they are different and feel different, but not be able to articulate why.

One of the most likely ways of being diagnosed is due to infertility, so if you are struggling to father children or have been told you are infertile or have to take testosterone replacement therapy for low T then get in contact with your doctor and get checked for KS which is done via a genetic blood test.

HOW DID I END UP AT AUTISM GUERNSEY FOR SUPPORT?

I went to Autism Guernsey because I felt isolated in Guernsey with no one to talk to about my condition and questions that have arisen over the years. I knew that Klinefelter syndrome has had links with mild, moderate or severe ASD and thought that perhaps I could meet with someone there to help myself as an initial stepping stone or perhaps more if they felt like they could help me.

• More information about KS can be found on the Klinefelter’s Syndrome Association website: www.ksa-uk.net.