RARE DISEASE DAY
Rare Disease Day is held on the last day of February every year to raise awareness of rare diseases. This year it will be on 28 February.
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 excessive daytime sleepiness (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 is just one symptom of Idiopathic Hypersomnia. Idiopathic Hypersomnia is characterised by a number of symptoms and clinical features first 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.
For most people living with a rare disease, as well as their family members or carers, the reality of daily life can include any combination of the following: collecting and taking medicines, attending appointments, participating in physical therapy, using specialist equipment and accessing various social and community support services and respite care. Managing these care-related tasks alongside their usual daily activities such as work, school and leisure time can be challenging.
Organising care can involve researching local services, making phone calls, accessing treatments and rehabilitation, handling administrative procedures and adapting the home or work space. As a consequence, people living with a rare disease are often off work or school. It becomes a complex and frustrating process especially when a lack of coordination across services means having to repeat the same information over and over again. This is particularly hard for someone with Idiopathic Hypersomnia as the very nature of the disease means they lack quality wakefulness and battle against constant debilitating excessive daytime sleepiness.