Kallmann syndrome - Being left behind.

The story of Neil

I was labelled as a “late bloomer” or “late starter” as a teenager and the label stuck until I was finally diagnosed with Kallmann syndrome at the age of 23.

It was only by chance that my first job after leaving university was at the Royal Free Hospital in London where two endocrinologists who specialised in Kallmann syndrome worked. While at work I went and found one of these endocrinologists (Dr Richard Quinton) and told him about my lack of puberty and development. The first question he asked me was “Did I have a sense of smell”.

It was the first time any doctor had ever asked me that question. To be fair I cannot remember mentioning it to any doctor either. It never occurred to me to mention it.

This was the start of a journey. It was the first time somebody had told me there was I reason I had not started puberty, that it was a recognised medical condition and that I was not the only person in the world not going through puberty. Putting a name to the condition was very helpful to me.

Soon after I met my first fellow patient who had set up a patient support group for fellow patient. Over the years I have tried to help raise awareness of this rare condition and help fellow patients communicate with each other.

Though websites and Facebook groups I try keep people updated with information about the condition. The patient groups allow patients from all over the world to be able to talk to each other and even in some cases meet up in person at patient meetings. With a rare condition such as Kallmann syndrome it can help knowing that there are other patients who have similar experiences you can relate to. I also keep a close eye on the Kallmann syndrome article on Wikipedia to make sure it is up to date as it is a resource that always rates high in internet searches.

I try to act as a patient advocate. I am in contact with Kallmann syndrome specialists in the UK and USA which allows me to keep up to date with information which I can then pass on to other patients. I enjoy the interaction I have with other patients and I think it helps me in my own journey with the condition.

*Find others with Kallmann syndrome (KS) on RareConnect, the online platform for people affected by rare diseases.