RCGP launches the first rare disease elearning module for Rare Disease Day

Tuesday, March 03, 2015

CAMBRIDGE, UK 27th February 2015: The Royal College of General Practitioners (RCGP) has partnered with rare disease charity the AKU Society to develop its first elearning module focusing on the diagnosis of black bone disease. The module is being released to mark Rare Disease Day, on 28th February 2015.

The AKU Society is a patient group supporting those who suffer from black bone disease, or alkaptonuria (AKU). This is an ultra-rare genetic disease, with fewer than 100 patients diagnosed in the UK.

The disease turns bones and tissue black and brittle, causing a type of debilitating early- onset osteoarthritis. But due to the disease’s rarity, many patients find it difficult to get a diagnosis, and are misdiagnosed multiple times. Patients are often not correctly diagnosed until late in life, missing out on the opportunity for timely treatment, which could prevent the painful damage caused by the disease.

The aim of the elearning module is to introduce GPs to alkaptonuria so they can better recognise and diagnose the symptoms. The module also gives information to GPs about the National Alkaptonuria Centre (NAC) in Liverpool – an NHS specialised service for the treatment of AKU patients. The aim is for patients to receive timely diagnosis and referral to the NAC so they can begin treatment early. This will prevent them experiencing the debilitating symptoms of the disease.

Ann Kerrigan, of Bristol was not diagnosed until the age of 49 after being misdiagnosed three times. She has now had six joint operations and lives with significant pain on a daily basis, needing a stick to aid her walking.

She said: “Being misdiagnosed was really hard for a long time, and really painful. But I knew something was wrong.”

Ann features in a video as part of the module. She said: “I’m so happy this module has been created to help clinicians diagnose alkaptonuria. My real hope is that patients will be diagnosed much sooner, and have access to the AKU Centre and treatment without waiting years like I did!”

The Chair of the RCGP’s Clinical Innovation and Research Centre, Imran Rafi, said, “We welcome this e-learning module to help raise awareness of alkaptonuria or black bone disease.

“The condition and its rarity illustrate the difficulty GPs have in making diagnosis, and the educational support provided through the module will be of great value.”

The module is free for anyone to use and can be found at: www.elearning.rcgp.org.uk/aku




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