Kallmann syndrome – A personal view.

Just a few personal points on my experiences with Kallmann syndrome:

One of the factors that puts Kallmann syndrome apart from a lot of other conditions is its rarity. Kallmann syndrome is not very widely known in the medical community let alone in the general population.

I have a small group of close friends; some of them know about Kallmann’s, some who do not. It is difficult for friends and families to sympathise with a person with Kallmann’s because they do not know what it is like to go without a fundamental part of growing up & developing as a person. They can empathise rather than sympathise with you.

By the age of 13 – 14 I thought I was just a late developer, like a couple of other friends in my peer group. By 15 – 16 it was clear something might be wrong but it was difficult to get anybody to listen. The GP didn’t want to know at first. Eventually I got referred to an urologist and a general medicine consultant. All they said was ‘wait and see’. Nobody thought about an endocrinologist at the time. By 16 –17 I was still being referred to as ‘delayed’. By the time I was 20 the term ‘delayed’ was still being used, but nobody in the medical field seemed to have an answer.

It was not until I went to University where I studied biomedical sciences that I began to do a bit of research myself into endocrinology. My first real job after leaving University was at the Royal Free Hospital in London. I work in the haematology / blood transfusion departments. At that time it just so happened that at the Royal Free were two endocrinologists (Prof. Pierre Bouloux and Dr Richard Quinton) who specialised in Kallmann’s. I arranged to see Dr Quinton one day after meeting him by chance at work one day and explained my story. One of his first questions was “can you smell?”

This then led on to a definite diagnosis of Kallmann’s by the age of 22. It was actually such a relief to be able to put a name to the condition. Dr Quinton then introduced me to another patient of his from London who was the first person I had met with Kallmann’s. It was surprising to see how our stories were the same in some ways.

I was then put on a more appropriate form of treatment. Since I was at the Royal Free I was in the ideal position to be part of clinical trials for new treatments. Since my diagnosis I had had testosterone therapy in 4 different forms and a trial of recombinant pituitary hormones (LH / FSH) rather than the human derived product that was the usual form at the time.

Since then I have met a number of people with Kallmann’s and read a lot of stories on the Yahoo support site. Everybody has their own way of dealing with Kallmann’s, for some people it is not an issue, for others it dominates their lives.

I think I am in the middle of these two. I am still very shy in social groups and not very good at relationships. I do have mood swings but they do not last very long and on the whole I am quite positive about life, just a little shy and quiet.