Updated: Jul 24, 2019
Rare Disease Day is held on the last day of February every year to raise awareness of rare diseases. 28 February 2018 marks the tenth international Rare Disease Day coordinated by EURORDIS. On and around this day hundreds of patient organisations from countries and regions all over the world will hold awareness-raising activities based on the theme of research. Rare Disease Day 2018 is an opportunity to call upon researchers, universities, students, companies, policy makers and clinicians to do more research and to make them aware of the importance of research for the rare disease community. Rare Disease Day 2018 is also an opportunity to recognise the crucial role that patients play in research. Patient involvement in research has resulted in more research, which is better targeted to the needs of patients. Patients no longer solely reap the benefits of research; they are empowered and valued partners from the beginning to the end of the research process. Patients:
· Advocate for research on a specific disease or across diseases. They know where research is needed and work to influence research bodies and companies to prioritise these areas in their research.
· Fund research. Individuals or patient organisations raise money for clinical trials or research projects, on their own or in partnership with private funding initiatives.
· Partner in research projects and are included in the governance of research.
· Participate as subjects in clinical trials and also in the design of clinical trials. They therefore help to ensure that the development of a medicine takes into account their real needs, so that the patient perspective is not overlooked. Rare disease research is crucial to providing patients with the answers and solutions they need, whether it’s a treatment, cure or improved care. Why do we care?
Idiopathic Hypersomnia is a rare disease. It is also one of the most misunderstood and under researched sleep disorders. Many (including doctors) incorrectly think it refers to any case of EDS that cannot be explained by another preexisting medical condition or sleep disorder or by lifestyle or behavior. This is not correct; Idiopathic Hypersomnia is a rare neurological sleep/wake disorder. EDS (excessive daytime sleepiness) is just one symptom of Idiopathic Hypersomnia. Idiopathic Hypersomnia is characterised by a number of symptoms and clinical features as defined by Bedrich Roth more than 40 years ago. Roth’s years of extensive research that led to his description of idiopathic hypersomnia as a separate disease entity was accepted and included in the first ICSD (International Classification of Sleep Disorders), the Diagnostic Classification of Sleep and Arousal Disorders in 1979. Since then it has been included as a “Rare Disease” on the Genetic and Rare Diseases Information Center (GARD) register and Orphanet There are many misperceptions about idiopathic hypersomnia. This combined with inappropriate testing methods has resulted in idiopathic hypersomnia being one of the most misdiagnosed of all neurological sleep disorders. The impact of this as well as the patients that continue to go undiagnosed for these same reasons is immeasurable. Further research is desperately needed in all areas, ie: etiology, epidemiology, the genetic aspects of the disease and to identify biomarkers that will lead to better more appropriate diagnostic tools. “Imagine going to see your doctor only to be told that they don’t know what is happening to your body, that they don’t know what your disease is. Imagine that they can diagnose your disease but tell you that there is no cure or treatment available. Or that the treatment available is not fully effective but just the best possible option. You don’t know how you or your loved one will manage life from one day to the next, nor how the disease will affect your work or school life. This is the reality for many rare disease patients.”
- Rare Disease Day February 28th 2017. This is the reality for people with Idiopathic Hypersomnia.
“With research, possibilities are limitless” - Rare Disease Day
"Rare diseases are rare, but rare disease patients are numerous" - Orphanet