Simon Laxon, who was diagnosed with a rare genetic disorder, alkaptonuria, soon after birth, describes his journey in understanding the condition and finding hope for a cure I was born in 1966, and within a few days of my birth my parents knew that something was wrong. There were dark purple stains in my nappies, so my mother took me to a consultant at my local hospital for investigation. After a meeting of specialist doctors, one of my nappies was sent for tests. The doctors suspected porphyria, but the test came back negative. A urine test led to the discovery of a rare genetic disorder. The doctors explained it would cause a type of arthritis: not crippling like rheumatoid arthritis, but one that would cause aches and pains as well as turning the cartilage in my ears blue. My parents felt there was no need to worry, so I grew up fairly normally. I was quite athletic at school and trained several times a week. In 1987 I developed a duodenal ulcer and had to go into hospital, where doctors rediscovered the genetic disorder (my original records had been lost). This time a name was put to it: alkaptonuria. The doctors knew little about it, but told me I would develop mild arthritis and that my urine would turn black if left to stand. We explained about the meeting of the specialists when I was only a couple of weeks old and the stained nappies. The doctors said that this was a symptom of alkaptonuria and was nothing to worry about, as the genetic defect was harmless. It took me a year to overcome the ulcer. By this time I was starting to suffer with aches and pains in my lower back. I found that I could not get back …