jueves, 3 de mayo de 2012

VML - Overcoming Lysosomal Diseases | www.eurordis.org

VML - Overcoming Lysosomal Diseases | www.eurordis.org


Eurordis, Rare Diseases Europe

VML - Overcoming Lysosomal Diseases

VainVML logocre les Maladies Lysosomales ([VML - Overcoming Lysosomal Diseases) is an organisation created in 1990 by parents whose children were suffering from lysosomal storage disorders and who ‘refused the insufferable'. It was the first lysosomal disorders association to be created in France and has today 700 members, 13,000 donors and some 2000 volunteers. Since its creation, it aims to:
  • Support and help patients and their family. VML proposes summer camps, family get-togethers and a helping hand for administrative tasks throughout the year.
  • Collect and disseminate information about the diseases.
  • Help research by funding programmes and doctorate grants that are validated by the scientific board. VML organises an International Scientific Congress every four years.

Cell‘My greatest wish is that the government imposes a tax to fund research. I want people to understand that research is everybody's business, whether they're sick or healthy,' says Jean-Guy Duranceau, President of the association since 2002. The term “lysosomal diseases” includes a group of approximately fifty disorders, affecting children and adults, that have a genetic dysfunction of the lysosome as a common characteristic. The problem begins with a deficiency or malfunction of a particular enzyme in the body, so the enzyme cannot properly rid cells of waste material. Waste products accumulate in the lysosomes of cells, which leads to disruption of cell function. To date, only 7 lysosomal disorders are treatable. “The existing treatments are expensive. We are worried that the government is questioning the cost of the treatments but I hope it will continue to finance them,' says Béatrice Mouly, Vice-President of VML since 2003. Five lysosomal disorders are in clinical trials. 'For Sanfilippo disease, for example, VML is funding half of the trial that started last January in Lyon,' adds Béatrice Mouly.

patientsWhilst supporting research, VML has many projects and activities for families. 'I have noticed that the pain of parents is often forgotten. We have worked on how to cope with death, and in March we will have our first ‘mourning weekend' for parents of children who have died,' notes Jean-Guy Duranceau. He is happy that parents of deceased children still remain members of VML. ‘If there's one thing that can never be taken away from us, it's our parenthood!' explains VML's President, whose daughter died two years ago from Neimann-Pick C disease. This year, VML will start the ‘Angels' Forest' project in Villeneuve d'Ascq, near Lille. “We wanted to find a place where we could plant a tree for each child that had died. The first trees will be planted in spring. The Angels' Forest will be an open space where people can walk or go jogging,” explains Béatrice Mouly.

At VML's office in Massy, patients and families can talk to a psychologist and they are advised on practical aspects of everyday life, because lysosomal disorders cause multiple disabilities. VML has also set up working sessions on specific disorders with a specialist and a clinician. ‘After these sessions, we create groups of pathologies with a volunteer in charge. This enables us to improve the support we give to a new family, and to provide them immediately with accurate information on their specific disease,' says Béatrice Mouly. Vaincre les Maladies Lysosomales has now offices in Switzerland and Belgium and members in Italy, Japan and the Maghreb.

This article was previously published in the March 2007 issue of our newsletter.
Author: Nathacha Appanah
Photos :  All photos except cells © VML

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