Rare diseases are only rare when taken in isolation; together there are very many of them. A disease is deemed to be rare if it affects no more than five out of every 10,000 people. So far between 6,000 and 8,000 rare diseases have been described worldwide.
So far between 6,000 and 8,000 rare (orphan) diseases have been described worldwide. Most of them have hardly been researched, and new orphan diseases are added to the list practically on a daily basis. In Switzerland and Europe a disease is deemed to be rare if it affects no more than five out of every 10,000 people. While the number of people suffering from each individual disease is very small, with 7,000 to 8,000 of these diseases in existence around 7 per cent of the population seems to be affected. In this country, the number of patients is estimated to be more than half a million (see page 6 of the National Rare Disease Policy). This is more than the number of people with diabetes .
Causes and progression
Many rare diseases have genetic origins. Added to these genetic conditions are rare infections, auto-immune disorders and other types of rare disease. The causes of most rare diseases aren’t yet clear. They are often life-threatening or result in chronic invalidity. Many appear at birth or in early childhood, while others don’t emerge until patients are much older. There is still no hope of a cure for the large majority of these rare conditions.
Number and rarity create challenges
The rare nature of individual conditions makes it more difficult to research, diagnose and provide medical care. Only a small number of people suffer from each of the 6,000 to 8,000 rare diseases known. Not only are individual diseases rare, but there is little specialist knowledge of them. If there is to be an improvement in care, expertise will have to be bundled and information will have to be shared more effectively. Teamwork is essential, as is networking between all the actors involved, including patients, care providers, social insurers, researchers, and many more. Diagnosing these conditions correctly and rapidly and providing those affected with appropriate care requires cooperation across Switzerland and beyond national boundaries.
Since ICD-10 (the World Health Organisation’s globally recognised diagnosis classification system) doesn’t allow detailed collection of data concerning rare diseases, the situation remains unsatisfactory. In some Swiss hospitals there are pilot projects to record rare (orphan) diseases using so-called Orpha numbers.
The fact that a rare disease affects only a small number of people means that there is little specialist knowledge available. Patients, and their physicians, are geographically far apart.
For this reason it frequently takes years or even decades for the condition to be diagnosed correctly. It is often hard to find what treatments and forms of care are available. The few recognised therapies that exist are often limited to combating the symptoms.
It is important for everyone concerned for there to be easily accessible information available via existing points of contact to clarify complex cases and coordinate treatment. The right diagnosis is the beginning of appropriate therapy, and reduces the risk of giving the wrong treatment. Well-coordinated care massively enhances the quality of life for patients and their families.
Administrative and social barriers
Since they are so rare that there is little or no awareness of them, people suffering from these diseases often encounter a lack of understanding. This can lead to social isolation and result in major administrative obstacles. Many patients affected do not know what help is available and what they are entitled to. It’s not always clear what the right form is for submitting applications for funding for therapy and assistance. To make processes more efficient, the policy contains measures to ensure better information on rare diseases, more efficient application and reimbursement procedures and better patient self-help.
The transition from children’s to adult medicine
Many rare diseases appear in childhood. Thanks to growing knowledge and better care, more and more of these children are reaching adulthood. Children’s medicine provides close support, but as patients transition to adult medicine, care structures change and physicians are less familiar with diseases that until now have affected only children. New approaches are required, especially when it comes to care management for adults with rare diseases.
Patients with congenital (birth) disorders are covered by disability insurance for the costs of medical treatment until age 20. In terms of health insurance this is also a transition to new procedures that those affected often find difficult.
Last modification 17.02.2021