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Rare Diseases: At The Movies

April 24, 2013

The Orphan Druganaut Blog looks at movies released in the last several years on the topic of rare diseases.

“Facing Fabry Together”

On International Rare Disease Day in February 2013, Genzyme announces that the film, “Facing Fabry Together” launches on its dedicated website and on the YouTube Channel. The theme for Rare Disease Day 2013 is “Rare Disorders Without Borders”, which is the theme throughout this global film on Fabry Disease. Fabry Disease is a rare inherited disease that “prevents the body from producing enough of the alpha-GAL enzyme, causing the progressive build up of a fatty substance that can cause damage in tissues throughout the body.”

The film follows the journey of four families and two physicians affected by Fabry Disease. The families are from four countries :

•    Brazil
•    Canada
•    France
•    Germany.

All four families share the challenges, journeys to diagnosis, and future hopes living with Fabry Disease. The film is available for streaming online. One can watch the entire film, or use a drop-down menu to choose a particular family story.

“Dusty’s Trail: Summit of Borneo”

“Dusty’s Trail: Summit of Borneo” is a documentary about a 20 year-old man’s journey with Duchenne Muscular Dystrophy (DMD). It tells a fascinating story about people coming together from around the world to climb a mountain in Borneo for charity and to also raise awareness for DMD. The documentary is filmed in Borneo and California. It is based on interviews with doctors, researchers, parents, friends and others who have been inspired by Dusty’s life, some with whom he has never met, and others who share the same rare disease.

Coalition Duchenne is a non-profit organization raising global awareness and funding for DMD. Coalition Duchenne is taking part in its third annual global event to raise awareness for DMD by sponsoring the August 16-18, 2013 Expedition to Mt. Kinabalu in Borneo. An International team of 150 will climb Mt. Kinabalu “for all the brave and courageous boys and young men around the world who face … Duchenne.”

“Extraordinary Measures”

In 1998, John Crowley, CEO & Chairman of Amicus Therapeutics, starts his biotech entrepreneur career as a result of two of his children receiving a diagnosis of Pompe Disease. In 2006, The Wall Street Journal’s Geeta Anand writes a book about his journey – The Cure: How a Father Raised $100 Million – and Bucked the Medical Establishment – in a Quest to Save His Children. The 2010 movie “Extraordinary Measures” is based on this book. In 1999, Crowley becomes founding president of Novazyme Pharmaceuticals, which was developing a treatment for Pompe Disease. Today he is head of Amicus Therapeutics.

Please Note: “Media-film” by RRZEicons (Own work) [CC-BY-SA-3.0] | Wikimedia Commons.

Copyright © 2012-2013, Orphan Druganaut Blog. All rights reserved.

  1. Danielle Blain permalink

    “Alphée of the stars”: Smith-Lemli-Opitz syndrome

    Canadian film “Alphée of the Stars” documents one family’s journey to prove the world incorrect about their lovely 5-year-old daughter Alphée. Though she is like most girls her age, Alphée also has a rare genetic disorder—Smith-Lemli-Opitz syndrome—which affects her neuromuscular development. When faced with the decision to put their daughter in classes for the “intellectually” challenged, filmmaker Hugo Latulippe and Laure Waridel leave Quebec and take Alphée and brother Colin to a Swiss village for at least a year of progressive integrated pre-school.

    There is also a web doc from this movie, in French version:

  2. Thanks for visiting the Blog !!

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