Alkaptonuria is a debilitating and rare genetic disease that affects the cartilage and bone, slowly destroying them. Adults with the disease often have to undergo major surgery, hip, shoulder and joint replacements, and suffer from heart disease, kidney illnesses, and many other problems. Because Alkaptonuria is so rare, it is unknown to the general public and poorly understood by many doctors.
It is what is known as an orphan disease -- orphaned from society, orphaned from the medical profession, and orphaned from government. Sufferers are on their own: isolated from support networks, ignored by society, and overlooked by the medical establishment.
The Alkaptonuria Society was set up to tackle these problems. It aims to raise awareness about Alkaptonuria among patients, their families, the public, and the medical profession, and to fund research to help find a cure to this serious and rare disease.
'One of the worst things about this disease is not knowing what is causing all the pain,' wrote one sufferer. The Alkaptonuria Society exists to promote information, show sufferers that they are not alone, and give them the hope that one day a cure will be found.