AKU patient, Tony, tells the story of his journey.
In July 2011, at the age of 53 I was diagnosed with alkaptonuria, or Black Bone Disease. Prior to this I had been treated for severe osteoarthritis. This first came to light when I was treated for a problem with a disc in my lumbar spine. This got progressively worse until in 1997, aged 40 I had to retire from the health service where I had worked as a Registered Mental Nurse in various positions and had been identified as a future leader of NHS Wales. I was told I wouldn’t work again, and that I could end up in a wheelchair by the time I was 50.
On reflection, it would have been possible to have diagnosed me at a much earlier date. My mother, a qualified nurse often recounted how my nappies had a purplish ‘tinge’ to them. As a teenager I had problems with my knees, had several x rays, saw several specialists and had a number of physiotherapy treatments. I also had tests carried out on my kidneys due to severe back pain. It was only when I saw a rheumatologist privately that I was finally diagnosed. He recognised the classic symptoms I had developed, and arranged the appropriate tests.
Living with AKU has been a challenge at times. Losing my career at the age of 40 was a big challenge, however, once I got my head around things I went to university and am now working as a Primary School Teacher. The main issues I had to contend with were decreasing mobility, pain, breathing and lifting issues. However I remained positive and adapted things to allow me to continue with work and hobbies – e.g. putting raised beds in the garden, and job sharing in work. I also managed to care for my wife who was terminally ill and my sister who had Down’s syndrome and dementia.
In Wales, although we are part of the UK, our Health Service is run by The Welsh Assembly Government. We have to apply annually for funding to attend the National Alkaptonuria Centre (NAC) in Liverpool and do not get nitisinone. Patients from England and Scotland attend the NAC in Liverpool and get access to nitisinone off-label.
As a result of this I made the decision to join the SONIA 2 clinical trial in the hope I would get nitisinone. Unfortunately I didn’t get the medication, but realise I have an important role in the control group. I am also taking part in the SOFIA study.
My view is that the more I can do to help the younger people the better. Professionals need sound evidence on which to base their decisions and challenge people in authority. Hopefully younger people will benefit as they will be in a position to take nitisinone at an early enough stage to prevent major health issues developing.
I’m currently playing an active role in trying to reverse the decision in Wales on nitisinone. In Wales the clinical trial is vitally important as we need nitisinone licensed before they will consider prescribing it. So the work goes on!