There are six to eight-thousand rare diseases and there is no effective cure existing for most of them, according to EURORDIS, the European Organisation for Rare Diseases.
The group adds that 75 percent of rare diseases affect children, and 30 percent of rare disease patients die before their fifth birthday.
“People with rare diseases endure years of uncertainty waiting for their disease to be diagnosed and for an appropriate treatment to be found. We must pursue our efforts in helping to ensure that each person suffering from a rare disease gets the support and treatment she or he needs,” – says Vytenis Andriukaitis EU Commissioner for Health & Food Safety on the EURORDIS Multi-Stakeholder Symposium on Improving Patient Access to Rare Disease Therapies in Brussels.
Elisa, an 18 year old Italian girl who featured in the 2016 Rare Disease Day’s video, had an unusually early diagnosis. When she was born, a cardiologist found that she had a heart defect and recognised the typical signs of Williams syndrome.
This is a rare genetic condition that is caused by a deletion of the elastin gene in chromosome seven. Elisa has some difficulties with manual dexterity, so she cannot write cursively or ride a bike, but that does not keep her away from her passions: music and make-up. She has been playing the piano since the age of eight, has played several times in public and even composed her own piece. She would have loved to become a professional beautician. In Italy, families benefit from good medical and social support, but Elisa’s parents believe there is still a lot to do. The Rare Disease Day, held every year on the last day of February, is to raise the awareness of patients and their families living and coping with a rare disease.
What the main issues are
The European Union considers a disease as rare when it affects less than one in 2,000 citizens. Rare diseases are often chronic and life-threatening. They affect more than 30 million people in the EU. Despite their great overall number, rare disease patients are the orphans of health systems. Besides the diagnostical problems (lack of access to correct diagnosis and late diagnosis), often there is no quality information for patients on their disease, nor scientific knowledge.
Health care offers inadequate and research limited. Rare diseases are often disabling and the social consequences are heavy for patients and people who care for them. The medicines are expensives. (The expression orphan drug is used for medicinal products intended for diagnosis, prevention or treatment of life-threatening or very serious diseases or disorders that are rare. Under normal market conditions, the pharmaceutical industry has little interest in developing and marketing products intended for only a small number of patients.)
Rare Disease Day brings together the millions of people affected by a rare disease across the world. The number of people living with a rare disease is staggering, 60 million and counting. This number cannot be ignored, says Sean Hepburn Ferrer, Rare Disease Day Ambassador. He is the son of Audrey Hepburn, the Hollywood screen legend who died from a rare cancer.
What patients and their families need
Increasing international cooperation in scientific research,
Sharing the knowledge about all rare diseases , not only the most frequent ones
Development of new diagnostic and therapeutic procedures for earlier and better diagnosis
Increasing and improving the orphan drug development
More help with the networking of patient groups to share their experiences of the disease and their best practices
Support for the most isolated patients and their parents to create new patient communities or patient groups