Simon's Story



"It has been a struggle to get help as alkaptonuria is such a rare and little known genetic disorder."

A couple of weeks after I was born, in 1965, my parents noticed that my skin and nappies were turning a dark purplish colour on contact with my urine. The doctors at the time did not know what was causing this and came up with several different diagnoses. Eventually they said that I had a rare genetic condition, but no name was given to it. 

The doctors advised my parents to keep me active and try to make sure that I grew up in a warm climate. They said the condition I had caused a rare type of arthritis, one that would cause aches and pains and make the cartilage in my ears and nose turn blue. My parents kept this advice in mind and as I was growing up they tried to involve me in as many physical activities as they could. I played football, hockey, rugby, cricket, squash, threw the javelin, and did martial arts. I trained virtually seven days a week.

In 1987, while in hospital for investigations into a duodenal ulcer, I was re-diagnosed with a ‘rare but harmless’ genetic disorder (my previous medical records had been lost in a fire in the hospital’s records department). This time a name was put to it: alkaptonuria or AKU for short. The doctors again knew very little of the disorder and told me that it was nothing to worry about.

In 1991 I met my wife, Laraine, and in 1995 she gave birth to our first daughter, Natalie. All was going well: I had a beautiful family and had just secured a good job. Then in 1997 I started to get severe pain in my lower back. I eventually collapsed at work with pain that was so severe it landed me in hospital for two weeks.

After an MRI scan, it was discovered that the lower and middle part of my spine had serious degeneration. The doctor explained that it was unusual for someone of my age (then 31) to have this much damage to their spine. I told him that I had a genetic disorder called alkaptonuria and asked if it could have anything to do with it. The doctor dismissed this and told me that it was due to the active, physical lifestyle I had been living. He told me that there was nothing else he could do and that I would have to live with the pain.

In 1998, I went to the Queen Elizabeth Hospital in Birmingham to meet an eminent American geneticist, called Professor Victor McKusick, who was visiting the UK. He told me all I needed to know about AKU – good and bad! He examined me and found that I had blue cartilage in both of my ears. He also noticed that my ear wax was dark brown, again due to AKU.

In May 1999 I was admitted to hospital again, this time with prostate stones – again, due to AKU. At the end of 2002 I was given anaesthetic injections into my hip and lower spine to try and stop the pain. To date it has worked – I still have problems walking distances and can’t bend my back, but life goes on! I no longer use a walking stick, something I did for five years. I am now looking to start back to work after an absence of six years, due to the pain and stiffness caused by AKU.

Overall I can honestly say that it has been a struggle to get help as alkaptonuria is such a rare and little-known genetic disorder. The ignorance of doctors about this disorder is alarming and I have found only one physician in this country who has actually treated another patient who has had it. I am lucky, in a way, that I have a hunger for knowledge; otherwise I would be oblivious to the fact that there are other people out there who suffer with this same disorder.

Simon lives in England.




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