Alkaptonuria Society – self managing a rare genetic disease

Lloyd Bettell-HigginsCase Study

Alkaptonuria Society – self managing a rare genetic disease


Simon Laxon is one of only around 80 people in the UK known to have Alkaptonuria or AKU – a highly rare inherited genetic disease which often leads to a range of other interrelated and often debilitating conditions such as osteoarthritis, heart problems and kidney infections. ​

Living in Coventry, Simon must be treated by a whole host of different medical professionals – physiotherapists, dieticians, GP, urologists, rheumatologists and orthopaedic surgeons – most of who operate from different locations and all of whom are highly specialised in their own fields but not normally in AKU. Such fragmentation and specialisation often leads to communication becoming difficult to manage – all of which has an impact on the care and treatment that Simon receives – until now.

In June 2012 and as part of the launch of a national treatment centre for AKU at Royal Liverpool University Hospital, Simon became one of the first AKU patients in the world to be given access to Patients Know Best, the first online patient-controlled medical records system. Developed by The Alkaptonuria (AKU) Society and based at Royal Liverpool University Hospital – a world-renowned centre for the study and research of AKU – the new national AKU centre provides yearly health checks, support and advice to people with the disease. As part of the service, patients also receive Patients Know Best which enables AKU patients to manage their healthcare more effectively and provides the specialist clinicians treating them a single view of a patient’s entire medical history.

Operating like a highly secure medical ‘Facebook’ and available over any internet-ready device, Patients Know Best enables Simon to decide which medical professionals can have access to his medical history and various treatment plans. It allows him to communicate directly with his clinicians and medical teams via a highly secure messaging system – teams that in theory could exist anywhere in the world.

Simon Laxon said: “It’s early days but I can already see how Patients Know Best is going to be of real benefit. It’s rare for any doctor outside the specialists at Liverpool to have much knowledge of AKU – and how to treat an AKU patient. This often means that the doctors can feel a little vulnerable when they see me and I have to spend considerable amounts of time and effort keeping all my various teams informed and in the loop. At the moment, communication can be very slow and convoluted involving written letters flying back and forth between the different teams involved – slowing down my treatment. Sometimes hard copy notes can be delayed or mislaid and that means that I have to remember what all the other clinicians have diagnosed – because I’m the only one who has been to all the appointments.”

Lesley Harrison, patient support officer at The AKU Society knows this problem only too well: “Because the condition is so rare, AKU patients find that GPs tend to know little about their conditions and struggle to treat them. This often means that AKU patients feel dependent on certain doctors who know their condition or tied to certain areas. However, through Patients Know Best, people living with AKU will be able to give any doctor, anywhere in the world immediate access to their entire medical history at the push of a button. This will make doctors more informed about the condition, better able to give appropriate treatments and crucially, give AKU patients more independent lives.”

Using Patients Know Best, Simon aims to put all his various clinical teams in touch with each other so they can learn from each other: “I see my specialists in Liverpool once a year but in the meantime I need to see dieticians, complete food diaries and have regular blood and urine tests. Before, there used to be no central place to log and manage all this information but with Patients Know Best, my notes can be sent straight to the right people and there’s no danger of any notes becoming lost. Patients Know Best has made managing my condition far more efficient – for myself and hopefully, for the clinicians treating me too. The next time I see a local doctor and they want to know about my condition and what other treatments I’m having I can simply point them to Patients Know Best and it’s all there in black and white. My hope is that all my doctors will soon be using the system so everyone treating me will be able to liaise with everyone else and when they need to, access the specialist knowledge of the AKU teams at Liverpool.”

Alkaptonuria (AKU): AKU is a rare genetic disease, which causes severe, early-onset osteoarthritis. Patients accumulate a black pigment that weakens bone and joints, increases heart disease, causes prostate and kidney stones as well as discolours skin – leaving black spots in the eyes and ears.

AKU Society: The AKU Society is a patient organisation, founded in 2003, that exists to help and support AKU patients and fund research to understand and treat AKU. In 2012 it opened a National AKU Centre and began clinical trials of a new drug, Nitisinone.

National AKU Centre: The NAC is a monthly clinic at the Royal Liverpool University Hospital that offers AKU patients an annual check-up with expert medical advice and extensive medical imaging. The centre also provides access to an off-label drug, Nitisinone.