February 28 is Rare Disease Day, but what is a rare disease?
In Europe, a rare disease is defined as when it affects fewer than one in 2,000 people. In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people.
There are over 300 million people living with one or more of the over 6,000 identified rare diseases worldwide each supported by family friends and a team of carers that make up the rare disease community. Taken together, rare diseases currently affect about five percent of the worldwide population.
The Ehlers-Danlos syndromes are a group of rare diseases affecting the connective tissues. As for many rare diseases, some of the EDS subtypes affect only a handful of people across the world. And, as for many rare diseases, the Ehlers-Danlos syndromes are categorized by a broad diversity of signs and symptoms that vary, not only from subtypes but from patient to patient suffering from the same subtype of Ehlers-Danlos syndrome.
Relatively common symptoms can hide the underlying diagnosis, leading to misdiagnosis and delaying treatment. Quintessentially disabling, quality of life of individuals living with Ehlers-Danlos syndrome is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and sometimes even life-threatening aspects of the disease.
The fact that there are no effective causal treatments and the lack of scientific knowledge adds to the high level of anxiety, suffering, and pain endured by patients and their families.
Rare Disease Day is therefore an opportunity to call upon researchers, universities, students, companies, policymakers, and clinicians to do more research and to make them aware of the importance of research for the rare disease community.
Rare disease research reduces costs for Health Care Systems, and as a result of research, rare disease patients such as an EDS patient who is diagnosed and properly treated no longer needs irrelevant tests, ineffective treatments, or unnecessary hospital visits. In addition, research on specific rare diseases often shines a light on more prevalent diseases and therefore the much wider public can benefit from research into rare diseases.
There are various types of research and frameworks that are important to the EDS community and all are supported by The Ehlers-Danlos Society. These include infrastructure such as Registries and BioBanks which researchers need to do their work; fundamental research to identify the cause and mechanisms underlying the different types of EDS; translational research which focuses on using the conclusions of Basic Research to develop Therapeutics for patients living with EDS; Clinical Research to test therapeutic strategies and products in humans through clinical trials; and research into quality of life working conditions, social needs, integration at school, multidisciplinary education of Social Service Providers. All of these research types are supported by The Ehlers-Danlos Society.
EDS research changes the lives of thousands of people and their family members living with this condition across the world.
Chief Scientific and Medical Officer, The Ehlers-Danlos Society
