I had a fairly uneventful childhood. I was a bit hard of hearing, was fitted for a hearing aid but rarely wore it. At senior school I was always the smallest in my year, not very good at sports but I got by.
As the teenage years went on and everybody starting developing as boys normally do– I did not.
I was not too worried at first, there is always an age range with puberty I knew. I got to 15- years-old and I still had not started puberty. After a medical examination for a paper round the school nurse sent me to the local GP. “Late bloomer, nothing wrong here” he said. This was repeated when I was 16 and 17-years-old as well.
I was getting a little worried, but not overly so. I just accepted what the doctor said, it would all start one day. A little before my 18th birthday my GP finally sent me to the hospital where I was seen by a general medicine consultant and a urologist. This came to nothing and I was still told to “wait and see” I went to University, still not having gone through puberty. I had my growth spurt at Uni but still looked about 14 when I was about to turn 20. I had about given up with doctors at this stage, I kept myself busy with my college work and sports officiating.
I started my first job at the Royal Free Hospital in London as a biomedical scientist. I went and saw one of the endocrinologists who worked there. I was not referred to him by my GP, I just found him in his office. The first question he asked as “Did I have a sense of smell ?” I was 24 years old and he was the first doctor ever to ask me that. I said I did not. This led to a couple more tests and the diagnosis of Kallmann Syndrome.
Since then I have been on testosterone therapy that has produced most of the effects that should have been seen at puberty. I have also undergone two clinical trials for fertility treatments. Being on hormone replacement made a major difference but the biggest difference to my life was being able to put a name to my condition and know that I was not the only 24-year-old not going through puberty.
I can live without testosterone but it would not be a good quality of life and I would be at very high risk of developing osteoporosis and diabetes. I am still infertile even on testosterone therapy but the clinical trials have shown that the treatments work for me.
The late diagnosis has impacted my life but compared to other rare disorders I am doing well. I am generally healthy now I am on testosterone therapy and having the condition does not affect life expectancy.
Early diagnosis and early treatment is the biggest issue for Kallmann Syndrome patients. Before diagnosis patients can feel very alone and isolated, thinking that they are the only person in the world not going through puberty. It is not an easy topic to discuss with family or doctors and being labelled as a “late bloomer” and being dismissed without further investigation does not help.