A man who has suffered with a rare condition that turns his urine blue, purple or black since he was born has spoken about his lifelong mystery - only solved when he got a diagnosis aged 53. Tony 65, from Bridgend in Wales has detailed his condition as part of a new national campaign, called This Is Rare.
Tony has Alkaptonuria (AKU), also known as black bone or black urine disease. It causes severe, early-onset osteoarthritis. Despite showing symptoms since he was a baby, including purple/blue-ish colour urine in his nappies, Tony wasn’t diagnosed with AKU until he was 53 years old.
A combination of missed opportunities and lack of AKU awareness prevented him from receiving an earlier diagnosis. Tony has found living with AKU challenge at times. Symptoms vary they and have significantly impacted Tony’s professional life.
He lost his career at the age of 40, then went on to university and retrained as a primary school teacher. Over the years his symptoms got worse making it difficult to cope in work and at home. The main issues he had to contend with were increasing mobility, pain, breathing and lifting issues and extreme exhaustion.
He also managed, with support to care for his wife who was terminally ill and his sister who had Down’s Syndrome and dementia. The school and occupational Health were supportive but eventually he had to give in and finish work through ill health. Tony is a patient advocate for AKU and has worked to get clinical trials available for patients in Wales.
To mark Rare Disease Day, healthcare company Sanofi has collaborated with rare disease patients and charities to launch This is Rare, a campaign which puts the voices of the rare disease community centre stage in the call for greater recognition, awareness and advocacy for the rare disease community.
Taking inspiration from the empowerment song 'This is Me', patients, charities and health professionals came together to record at Abbey Road Studios to share their experiences through song under the guidance of world-famous vocal coaches and presenters, Carrie and David Grant MBEs.
This is Rare puts the voices of the rare disease community centre stage in the call for greater recognition, awareness and advocacy for the 1 in 17 people affected by a rare disease in the UK.
Carrie and David Grant said: "We're thrilled to be part of this inspiring project which aims to unite the rare disease community through the power of music. Raising awareness for people living with a rare disease remains a very important task. We are delighted to be shining a spotlight on the experiences of those involved, who are standing up proudly and saying this is Rare, this is Me.”
1 in 17 people will be affected by a rare disease at some point in their lives. This amounts to 3.5 million people in the UK. This is Rare aims to raise awareness of the individuality of rare diseases but the collectively common impact. It seeks to highlight the need for greatest recognition, timely diagnosis and appropriate and equitable access to care. At present, people with a rare disease in the UK might see five different doctors and be misdiagnosed three times before they get the diagnosis they need.
Patient organisations and communities provide invaluable support to those who use their services or participate in their networks. Through connecting with others also affected by a rare disease, feelings of isolation can be reduced, individuals can feel empowered, and families can feel better supported. This is Rare has brought members of the community together to provide a space where they can convey what rare disease means to them and elevate their voices through connection and the power of music.
Ben Whitehouse, Head of Rare Diseases, Sanofi UK and Ireland said: “At Sanofi, we're committed to creating fulfilling futures for extraordinary people. No matter how rare their condition. By focusing on these uncommon and underserved medical conditions, we want to empower the lives of patients with rare diseases by developing and introducing new treatments, as well as providing support that extends beyond our medicines, to deliver our vision for Better Care for Rare.”
