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Policy engagement

06 November 2007

Critical issues surrounding the funding of treatments for patients with rare diseases will be discussed at an event organised by Cardiff University’s Wales Gene Park.

Medical, ethical and economic questions will be addressed at a policy engagement event hosted at the National Assembly by Lorraine Barrett AM (8 November).

Patients, policy makers, health professionals and academics will discuss ‘orphan drugs’ (medications used to treat diseases that occur rarely and can be highly expensive).

It is estimated that between 5,000 and 8,000 distinct rare diseases exist today with five new diseases described every week in the medical literature. Event chair Professor Ruth Chadwick said: "Being diagnosed with a rare disease can bring added anxiety for patients where research may be limited, especially if they are concerned that economics plays a role in their treatment options. This event will consider issues ranging from the patient’s perspective to the challenges facing healthcare decision makers."

One such rare disease is Pompe disease, a metabolic muscle disorder. It is a rare neuromuscular genetic disorder that occurs in babies, children, and adults who inherit a defective gene from each of their parents.

Allan Muir, Chairman, International Pompe Association said: "A common feature of many Orphan Diseases is their progressive nature; so they require early diagnosis and immediate treatment. Patients cannot afford to wait years for these funding decisions."