Late Diagnosis

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 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 to 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.

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 the 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 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 me and my 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 about 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.