Useful information for patients and their families

Living with a rare disease is usually very challenging. The diseases are often highly complex, and standardised treatment plans and simple social and administrative solutions are still being developed. Access to reliable information is therefore crucial.

Challenges due to the large number of very different rare diseases

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 7,000 to 8,000 rare diseases. Not only are individual diseases rare, but there is little specialist knowledge about them. In order to improve care, efforts are now being made to pool expertise and share information more effectively. Collaboration between the federal government and cantons is crucial, as is networking of all stakeholders, including patients, care providers, social insurance bodies and researchers. Diagnosing these conditions correctly and rapidly and providing those affected with appropriate care requires enhanced cooperation.

Medical care

The fact that a rare disease affects only a small number of people means that there is a lack of awareness of the similar challenges associated with most of these diseases. Patients and specialist doctors are geographically far apart. Finding out about available treatment and forms of care is a challenge.
The aim is to provide effective access to reliable information via points of contact to clarify complex cases and to coordinate treatment. An accurate diagnosis paves the way for appropriate therapy and also reduces the risk of giving the wrong treatment. Coordinated care hugely increases quality of life for patients and their families.
The National Coordination Rare Diseases (kosek) recognises and re-evaluates specialised diagnostic centres and disease(group)-specific centres of reference with networks: Structures recognised by kosek.

Administrative and social barriers

Because these diseases are so rare, there is little or no awareness of them, which means sufferers often don’t know where to go for help. This can lead to social isolation and result in major administrative obstacles. Many people affected do not know what help is available and what they are entitled to. It’s not always clear how to go about applying for reimbursement of assistance and treatment. There are already a number of contact points that can provide relevant support in this area: Disability insurance (DI) offices, helplines, patient organisations and their umbrella organisation ProRaris. To further enhance the processes, there are measures in place to improve information on rare diseases and application and reimbursement procedures, to enhance patient self-help, and to support family members.

The transition from paediatric to adult medicine

Many rare diseases start in childhood. Thanks to increased knowledge and better care, more and more of these children are reaching adulthood. Paediatric medicine provides close support and monitoring, but when patients transition to adult medicine, care structures change. Structural changes 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 up to the age of 20. Switching to health insurance is also a step that entails new procedures that those affected often find difficult.

Links

Versorgung für seltene Krankheiten (kosekschweiz.ch)

ProRaris, Allianz Seltener Krankheiten – Schweiz

IV-Stellen | Kontakte | Informationsstelle AHV/IV (ahv-iv.ch)

Geburtsgebrechen der IV (admin.ch)

Further information

Rare diseases in Switzerland and the national policy

A series of practical measures was implemented between 2014 and 2019 as part of the National Rare Disease Policy with the aim of improving care for people living with rare diseases throughout the course of their illness.

Rare diseases

Although rare diseases may be individually rare, they are collectively common. In Switzerland, over half a million people are affected by a rare disease.