Rare Disease Day 2010

February 28

Back

Event - 25 Feb 2010 - IRELAND

Screening of Extraordinary Measures

The Genetic & Rare Disorders Organisation (GRDO) in association with Muscular Dystrophy Ireland (MDI) and the Irish Platform for Patients’ Organisations, Science and Industry (IPPOSI) invite you to a special screening.

Extraordinary Measures Movie Poster with Brendan Fraser and Harrison Ford

 

 

 

Extraordinary Measures (CBS Films)
Starring Harrison Ford and Brendan Fraser

Movies@Dundrum
Thursday, February 25th

 

Reception, lower lobby 7:00pm
Screening 7:45pm

 

 

 

 

 

Extraordinary Measures is inspired by the true story of John Crowley who tirelessly pursued a cure for Pompe Disease, a rare condition that affected his two young children.

 

Register for the screening by emailing film@bancenolan.ie.
Places are limited so early registration is encouraged to avoid disappointment.

Download the event invitation (PDF) here.

Invite Text

 

More about Muscular Dystrophy Ireland (MDI) and Pompe Disease

MDIs a voluntary organization, which was established in 1972 by a small group of people in the west of Ireland to support families who had a member with muscular dystrophy. Since then it has grown considerably and it now has a membership of over 540 members and a network of branches throughout Ireland. There are now MDI offices in Dublin, Cork, Galway, Sligo, Tullamore and Kells, and MDI staff members are also based in the Mid-West and South East regions. MDI’s primary objective is to provide support for people and their families who are affected by muscular dystrophy and allied neuromuscular condition

Muscular dystrophy is the collective name for a range of neuromuscular conditions, which are characterized by the progressive weakening and wasting of the muscles. It can affect adults and children. Some forms arise at birth or in childhood, others may not manifest themselves until later in life. Each type of muscular dystrophy arises from a different genetic mutation or deletion which is inherited from one or both parents, or is due to a spontaneous mutation. This means that there are many families who have more than one member with the condition.

There is no cure for Muscular Distrophy, but there have been huge advences in increasing the quality oof life for people with the condition and scientists around the world are working hard to develop new treatmetns.

 

Pompe Disease

Pompe Disease is a rare and progressive neuromuscular disorder affecting both children and adults. It affects an estimated 5,000 to 10,000 patients worldwide. In patients with Pompe, an enzyme known as acid alpha-glucosidase (GAA) is either missing or in short supply. GAA is responsible for the breakdown of glycogen, a form of sugar stored in muscle cells throughout the body. In patients with Pompe, glycogen builds up in cells in the body, weakening and damaging muscles.

As it progresses, Pompe can cause a range of serious health problems including affecting breathing and mobility.

Rare Disease Day Partners:
Terms of Use