What's it like to be unique?

Lynne Colvill has Hereditary Multiple Exostoses, a rare medical condition where multiple bony spurs or lumps develop on the bones, usually in childhood. it is said to affect 1 in 50,000. Like most people with an unusual disability, she has had to become her own medical expert. "Every time I change GPs, I have to tell them all about HME. You get sick of telling your story, but you have to because no one else knows your own body like you do."

However, to become an expert on your own condition you first need a diagnosis. It took six years for John Smith to be told he had Keratoconus, a rare eye condition affecting 1 in 3,000 to 10,000 people. "In the preceding years I was forever getting my glasses changed, trying out painful contact lenses and complaining that the new prescription was no good."

Alana Campbell, a young person with a form of restricted growth called Kniest Syndrome, which is said to affect 1 in 200,000 people, knows that even after you have been diagnosed, things don't necessarily fall into place. "At my checkup, nine times out of ten they would ask how to pronounce it, then ask what it was as they had never heard of it."

Treatment alternatives for rare conditions are often poor due to lack of knowledge, and also because of the small number of people who have 'tried and tested' the options. Where drugs are involved there is an additional problem, in that there is no money to be made in focusing on rarer illnesses. Legislation providing incentives for pharmaceutical companies to develop drugs to treat rare diseases came into effect in Europe in 1999, in order to combat this problem.

Being a rarity arouses great interest in the medical profession. Whilst people want to help doctors further their knowledge, they often report being made to feel like an exhibit. Alana remembers, "I was placed on a table in front of a group of medical students. My surgeon lifted my leg and asked the class what they could tell him about it. He lifted my top up and asked about my spine. I remember not liking it."

The internet has proved revolutionary for people with rare disabilities. Hannah James is visually impaired with Aniridia, where the formation of the iris is incomplete. "The first time I used the internet I looked up Aniridia. I learnt more about it, how it might progress and about treatment options. Some of the information was scary, but being able to keep up to date helps me feel confident."

The internet has also made possible something that was previously impossible - finding others with the same rare condition. Many find this is an invaluable source of support, and Hannah also found it to be very revealing. "I met this woman and for the first time something clicked; I could see myself from another point of view. I understood how people would see me reading, how I'd looked when the lights were bright."

Alana recalls meeting others with Kniest for the first time. "When I was eight years old, I attended the first ever Kniest group in America and met fifteen other people with Kniest. I remember crying on the plane, begging my mum for us to please stay, and not wanting to come back home. I know that I would like to go back and meet them all again; I still wish I knew someone like me that lived near me."

John met someone else with Keratoconus by pure fluke. "The first person I met with KC was a girl at work. We were in the pub one evening, and she commented that she had an unusual eye condition that nobody had ever heard of. I eventually weeded out that she had KC, and when I exclaimed that I had it too she thought I was inventing a weird chat-up line! It was wonderful though to chat about our problems and realise that we were not alone."

John subsequently joined a group to provide others with the support he found so useful. Such groups exist even for some of the rarest conditions and can be found through organisations such as the Genetic Interest Group and Contact a Family.

Living with a rare disability can be a difficult challenge. Lynne Colvill explains that one of the keys to survival is having a positive attitude. "When I read my childhood notes it said my life expectancy wasn't good because of the complexity of the operations I needed. I'm 29 now, and I'm still going. You have to be tough and stand your ground. Some days I feel like I'm a celebrity really, and everyone looks at you - I'm still breathing, I say! And that's the way I want it to stay."