2019 International Rare Disease Day

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There are around 7000 rare diseases and disorders affecting somewhere around 300 million people worldwide.

Many rare diseases are believed to be genetic, caused by changes in genes or chromosomes and passed on from one generation to the next. In some cases, they occur randomly in a person who is the first in the family to be diagnosed.

Some rare diseases including infections, some cancers and some autoimmune diseases are not inherited. The exact cause of many rare diseases is still not known and research continues.

The theme for Rare Disease Day 2019 is 'Bridging health and social care'.2019 rare disease day

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.

There are over 6,000 rare diseases that affect over 300 million people worldwide. Each disease has an impact on everyday life, including the need for a daily care routine. According to the first ever Europe-wide survey on juggling care and daily life with a rare disease carried out by Rare Barometer, 8 in 10 patients have difficulties completing basic daily tasks. As a result, the majority of care is usually coordinated by people living with a rare disease and their family members who spend a significant amount of time organising care. According to the survey 70% of patients and carers describe it as time consuming.

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. Communication between different services needs to improve so that services are delivered efficiently to meet patients’ best interests.

The 12th edition of Rare Disease Day will focus on bridging the gaps in the coordination between medical, social and support services in order to tackle the challenges that people living with a rare disease and their families around the world face every day.

Rare Disease Day 2019 is an opportunity to be part of a global call on policy makers, healthcare professionals, and care services to better coordinate all aspects of care for people living with a rare disease.

Rare Disease day has been celebrated worldwide since 2009.