My initial Kallmann syndrome diagnosis.

There is one day in my life I wish I had more memory of, or at least understood the consequences of that day at the time.

The day I got my Kallmann Syndrome diagnosis in 1992.

I studied an endocrinology unit while at University for my biomedical science degreee and had tried to find more information on disorders of puberty, but this was pre internet days and you had to physically find information for yourself in real books.

I started work at a hospital in London as a biomedical scientist, working in a blood transfusion lab. I knew I had an endocrine condition so one day I went up to the endocrine department to find somebody to talk to. No appointment, just one lunch time, knocked on a door.

I wish I could remember the exact details but it involved me telling this endocrine doctor my situation. The first question he asked was "did I have a sense of smell ?".

23 years of age, no doctor had asked me that before. To be fair I perhaps had not thought of telling a doctor either since it was something I rarely thought about.

That doctor was Dr Richard Quinton. At the time senior registrar to Prof Pierre Bouloux. I just happened to start work in the one hospital in the UK that had two KS specialist doctors working there. Dr Quinton had done his MD thesis at Cambridge University on Kallmann syndrome.

This led on to the formal diagnosis and treatment and more importantly perhaps, meeting my first ever fellow patient (that I knew of at least).

I perhaps could not have been at better hospital to get diagnosed for a rare endocrine condition. Getting on to 30 years later I am still in contact with Dr Quinton.

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What is Kallmann syndrome ? The very basics.....