P’s story

Struggle and success

My son has just had his sixteenth birthday, and I thought you might like to know how things are progressing. I have known about Klinefelter’s Syndrome for just over 16 years. As I was over forty when I was expecting my son, an Amniocentesis was advised at 16/17 weeks, and as a result of this an extra chromosome was detected. At this time we weren’t given good information by the geneticist, only the very basics, and then we were offered a termination! Well, that wasn’t an option even to be considered.

When my son was fifteen months old, my husband and I separated and I muddled through the next seven years. My GP at the time had little knowledge of KS and suggested I go to a library. I found out that learning difficulties might present themselves to this delightful, healthy boy, so he started at a private nursery then went on to pre-prep school. I managed to get him through pre-prep school, financing this on my own. There has been a lot sacrifices, but I consider it money well spent. In his case, small classes have been the best method of teaching and helping him to become socially accepted. Not all has been easy. When he was little he was quite disruptive, throwing things across the classroom, and later on he was bullied to the point of wanting ‘to die’. Patient, dedicated teachers helped him through. I found that telling his schools about KS was the best way forward, and still do, as most dedicated teachers want to help.

I became a member of the KSA when my son was eight and some three years later he was chosen to take part in a research programme conducted by Professor Skuse of Great Ormond Street Hospital (GOSH). The tests carried out were mostly looking at intellectual and educational abilities and behavioural development. The results of the tests were sent to me in a report which I was able to pass on to his school. This has helped enormously with his GCSE preparation as he has had extra help.

Making friends has been very difficult all the way through his childhood. I have found myself making friends for him, but the relationships aren’t very sound. While being accepted by his peers there is no real friendship and he feels excluded from groups. The last eighteen months have been particularly difficult as he has had to cope with breast development (gynaecomastia). This led him to exclude himself from things at school. He became very round shouldered, thin and tall. Trying to disguise his development all the time was showing its strain on him. I did tell the school about this, and the school doctor and nurse and headmaster were very supportive and helpful. It is very hard for a parent to watch as their son becomes very self conscious and withdrawn – his confidence dissolving before your eyes. It was something that I had dreaded right from the beginning, when I was first told about KS more than sixteen years ago. I had been under the impression that providing a KS boy had testosterone treatment in good time, no breast development would arise – I was misinformed!

I have picked up all sorts of misinformation along my route. I thought that all KS boys had to take testosterone at 10 or 11 years old. Just before joining the KSA I had asked my GP to refer my son to Great Ormond Street Hospital (GOSH). That was 8 years ago. I had been very upset when my son, who had six monthly appointments at 11 and 12, was not prescribed testosterone, because I thought that he was bound to have gynaecomastia. He was producing a very satisfactory hormone count and seemed to be poised to go into puberty – so the Endocrinology department at GOSH decided to leave well alone. I didn’t know whether they were telling me this clearly or not, or maybe I had brainwashed myself into thinking he had to have more of this masculine hormone to lead a normal life – I was worried. Yes, his body seemed to be maturing – he was growing taller, developing hair under his arms, by 12 his voice had broken (ahead of some of his peers). I was assured by the hospital at every appointment that genitalia was developing on cue and that hormone treatment was not necessary – I was sure the ‘book’ said KS means testosterone from just before puberty for life. Had the hospital got is right? I was worried. My son’s left breast started to develop first when he was just 14 and both sides by the summer of that year. Fortunately, I had told my son about KS when he was 10, and we had spoken quite openly about its possible side effects and hormone treatment, etc. So he was able to talk to me about it and show me what was happening to him. In the December of that year we visited GOSH again and went away even more confused. Testosterone had been offered directly to my son – if he wished. He was to go away and think it over and in the meantime an ultrasound scan for the gynaecomastia was booked. I wasn’t happy that the decision had been given to a 14 year old boy, especially after a lengthy talk to my son’s GP at school, who informed me that the hormone would make the gynaecomastia worse!! Simply put – the testosterone was turning into oestrogen in the breast tissue because of the extra X chromosome, hence the development of the breast. We waited for our next appointment at GOSH in the following June, having made no decisions. In my heart I had completely changed by now, and felt strongly after the hour I had spent with the school GP that I didn’t want my son to start on a life lime TRT (testosterone replacement therapy) if it wasn’t the least bit necessary.

June came, (more than a year after development had started) – the Endocrinologist decided that surgery was now necessary. A difficult academic year lay ahead with GCSE exams – when was a good time to have surgery? We were referred to a Plastic Surgeon who told us that a two week window was needed after the operation for recovery. On the NHS you can’t really choose a time. If you are really lucky enough to get the surgery booked, the chances of being ousted in favour of a road traffic accident or someone with severe burn is very high. Such emergencies would of course take precedence over this type of surgery. There was a very difficult year ahead, with mocks starting on the first day back after the Christmas holidays, course work and tests all the way through to the Easter holidays and then, immediately after Easter, the real thing. Then there was another problem. If the operation was during term time – how would he explain to his peer group why he was away for two weeks! There seemed to be only one solution, and that was to pursue the private route again. At huge expense we look this route. Our sanity was on the line, and I had a suspected problem with my heart. We were really getting very stressed, and whatever the cost, I booked my son’s surgery for October half-term (he was fortunate to have two weeks – very unusual!). I have to say that it was a huge success. The operation lasted about three and half hours and I was allowed to sleep in my son’s room. We came home 24 hours later. The procedure included liposuction, and the small incision has left minimum scaring.

After those two weeks he returned to school with loads of confidence and going from strength to strength. Body building is on the list but still not in public – muscle tone is very poor due to missing games, gym etc., for the last 18 months. No doubt he will approach this after his exams in May. His mocks went very well and a ‘C’ in seven subjects and ‘A’ ‘A*’ in Art is predicted. He works very diligently at school and has a desire to achieve.

I hope you find our story of interest – but I want to stress that not all KS boys have gynaecomastia or are prescribed testosterone. Be wise and prepare yourselves for both. My son seems to be producing enough of his own hormone so nothing more has been said about TRT – but blood tests will be done every 18 months or so to make sure his level is being maintained naturally.

Update:

P’s son is now 27. He went to university where he had some support and was allowed extra time in examinations etc. He graduated with an honours degree and is now a very successful graphic designer. Like many young men he ignores his KS and gets on with his life.