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Points for Reflection

1. Andrew states that he is a regular visitor to hospital, and from the list of problems he cites, he clearly visits a range of hospital departments. His frustration about the lack of awareness about KS is evident, and suggests that the majority of hospitals should ‘have a genetics counsellor or at least someone in the field of genetics that knows what they are talking about.’ Do you think this is the most effective solution? Is it the most realistic?

2. Like many men with KS, Andrew was diagnosed in adulthood, but even then, not until several years after investigation and treatment for infertility. What would be the advantages and disadvantages of screening boys at birth for this condition?

Activities

1. “I do realise that the study of genetics is a vast minefield but more time should be spent understanding the abnormalities that genes can cause instead of worrying which government body is going to clone the first human being, as they cannot conquer what they know at present, never mind create more abnormalities!” Discuss this statement in your learning group. Do you agree with this view?

2. Visit the Klinefelter Organisation website and read about the condition on the What is KS? page. If you were responsible for the care at puberty of a boy with KS, what advice would you give him about lifestyle and management of his condition?

3.How would you explain to a student nurse, the genetic mechanism that resulted in Andrew having Klinefelter syndrome?

Quotes

"...I am in and out of hospital on a regular basis and the care I receive is excellent! The only thing is the fact that apart from my consultant, no one has a clue as to what Klinefelter syndrome is."

"When I asked what was to happen next, I was told quite bluntly: Oh, we’ll chop your head off and replace it with a cabbage! By this, they meant don’t worry about it."

Further information

KS support groups include - the Klinefelter Syndrome Association UK: http://www.ksa-uk.co.uk/ and the Klinefelter Organisation: http://www.klinefelter.org.uk/

US National Library of Medicine, Genetics Home Reference: Klinefelter syndrome

The Arthritis Research Campaign has many booklets available on its site including information on osteoarthritis and osteoporosis.

AnSWeR - Antenatal Screening Web Resource: http://www.antenataltesting.info/ has other personal experiences of Klinefelter syndrome at: http://www.antenataltesting.info/conditions/klinefelters/default.html


Location: The Stories
Transcript

You can download the full transcript here

Andrew’s story: “…The buck stops with me…”
Living with Klinefelter syndrome (47, XXY), a condition associated with a chromosomal imbalance

First of all let me explain, the genetic anomaly I have is not hereditary, it can not be passed to further generations of my family – the main reason being I am sterile, so as to say, the buck stops with me!

I was born on 5th March 1953, received all the relevant medical checks done at that time and was pronounced a healthy baby boy. I married at the age of 24 years of age and after a few years, we decided on a family. Unsuccessful after a time, I was sent for a fertility test and it came back as a low sperm count. Still they said keep trying. Several years later and nine failed donor inseminations, IVF was suggested. Again, this failed and it was not until forty years later that a freak accident i.e. the car door hit me in the chest and my doctor sent me to the hospital to be on the safe side.

Blood tests were carried out and as other tests were also carried out, I was sent to see an endocrinologist who informed me that I had Klinefelter Syndrome. When I asked what was to happen next, I was told quite bluntly: Oh, we’ll chop your head off and replace it with a cabbage! By this, they meant don’t worry about it. After seeing yet another specialist, it was decided that I would benefit from testosterone treatment. As I am sure you’re well aware of KS and the effects it has on sufferers, my world caved in on me: no family, failed IVF, failed adoptions – the only support I have ever had was from my wife, my parent’s attitude towards me was that it wasn’t their fault. Trouble was it was, as my mother was 39 years old when I was born.

I married in 1977, my ability to perform was okay but my sex drive was non existent. I now receive testosterone implants every four months of 600mg (to date, 23 implants), my sex life is non existent as I am on insulin for diabetes, Viagra does not work – it only gives me headaches, other methods are useless and I get so frustrated you would not believe it. I am more assertive, mood swings, aggression and more verbal than violent and I know when I am due for an implant. Then I ring my Endocrinologist and he books me in as a local day case.

How has it changed my life? What an understatement that is! I’m very bitter that this syndrome was not found out sooner than it was. It explains several reasons for the way I am. Osteoarthritis, left knee surgically stiffened. Right knee – unstable where I wear a full length calliper just so that I can stay on my feet! Osteoporosis. Cervical spondylosis. Peripheral vascular disease. Diabetes type 2. Severe mobility problems. Erectile dysfunction. The list is endless – high blood pressure.

I worked from the age of fifteen until I was thirty two years old, then my health became worse and I was retired on the grounds of medically disabled and classed by the government medical officer as unfit for work – so ask yourself – how would you feel?

Disability I can live with, Klinefelter – that’s something else!

My experience of care from the NHS: I am in and out of hospital on a regular basis and the care I receive is excellent! The only thing is the fact that apart from my consultant, no one has a clue as to what Klinefelter syndrome is. I get sick and tired of having to repeat myself over and over again, so now I tell them quite bluntly to look it up on the internet! Even then, they cannot imagine what I am feeling.

One experience that I remember: There are too many. But the one main thing is not being believed by consultants – mainly orthopaedics – that there was something wrong with me. I was often told that it was impossible for me to have certain problems as they were more linked to women than men. They never bothered to check or read my notes – then they would have seen that my DNA or karyotype is 47XXY and that I carry an extra female chromosome. I was never believed and that pains me! I even went to see a psychiatrist off my own bat as I worked in a large hospital to put my mind at rest and was declared sane but my problems were of the body and not the mind.

How would you improve care for myself and family? - By taking the time to understand what we feel. By making sure that the majority of hospitals have a genetics counsellor or at least someone in the field of genetics that knows what they are talking about! I do realise that the study of genetics is a vast minefield but more time should be spent understanding the abnormalities that genes can cause instead of worrying which government body is going to clone the first human being, as they can not conquer what they know at present, never mind create more abnormalities! The majority of KS feel the same, I tend to think that I was genetically modified, I have something extra, I suppose I’m lucky in some ways, as one of my main problems with KS is that I lack emotion, even with the death of my parents, I sailed through, I never mourned them, nor do I have much sympathy for others. I’ll help those that help me but I will not suffer fools lightly. I realise that this must sound cold to you but unless you understand my thoughts, my feelings, my intense pain, then I’m afraid you’ll never understand KS!

It is said by learned men that KS has an effect that both sides of the brain work together and that we have other talents such as music and computing. My skills tend to be cognitive thinking – I’m usually pretty good at thinking things through than acting on instinct. If I’m wrong then I will apologise, otherwise beware and most of all, I believe in truth and honesty before all else.