Rare Diseases - Questions And Answers

Rare Diseases: Frequently Asked Questions (FAQ)

The most important questions about rare diseases at a glance:

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• What is a rare disease?
• What are the characteristics of a rare disease?
• What are possible signs of a rare disease?
• Who do I contact if I suspect a rare disease?
• How do I find experts to treat my disease?
• Where can I find advice and help with a rare disease?
• Is there a medication for my rare disease?
• Where can I find information on individual clinical pictures?
• In which cases can or must the treatment take place abroad?
• How do I find out if there is a clinical study on my condition?

What is a rare disease?

Rare diseases are defined using the frequency (prevalence) criterion. In the European Union (EU), a disease is considered rare if no more than five out of 10,000 people are affected. Around 7,000 to 8,000 diseases of the approx. 30,000 known diseases are classified as rare.

What are the characteristics of a rare disease?

Rare diseases are usually complex, serious and chronic diseases that often appear in childhood. The quality of life and / or life expectancy are often limited. Approx. 80 percent of these diseases are genetic, but they also include certain infectious diseases, autoimmune diseases and rare forms of cancer. After an often lengthy diagnostic process, rare diseases usually also require sophisticated treatment.

What are possible signs of a rare disease?

The following points can indicate a rare disease:

• Chronic or (several) different symptoms with an unclear cause occur again and again.
• Current therapies do not respond or only lead to temporary relief of the symptoms.
• Immediate relatives have the same or similar symptoms or have an already diagnosed rare disease.

Who do I contact if I suspect a rare disease?

If you suspect a rare disease, the first point of contact for clarifying complaints and diagnostics - just as with a common disease - is your family doctor. They will refer you to a specialist or, if there is already a specific suspicion of a certain disease, they can also put you in direct contact with a specialized center or other clinical facility (outpatient department). An accurate diagnosis of unclear chronic symptoms is important in order to gain clarity about the symptoms and to find an effective therapy.

How do I find experts to treat my disease?

Once you have been diagnosed with a specific rare disease, treatment can sometimes also be given at the same facility where the diagnosis was made. In other cases, you will be referred to a specialized center. Orphanet's online database, in which specialized clinical facilities for rare diseases are listed, helps when looking for experts. The respective patient organizations and self-help groups also offer guidance.

Where can I find advice and help with a rare disease?

Self-help groups and patient organizations for various rare diseases are available with information, advice and help. You can find more information under Advice and Help.

Is there a medication for my rare disease?

The attending physician can prescribe a medication for the treatment of a rare disease. Many rare diseases cannot yet be treated causally, however, and drugs are often only available in so-called “off-label use”, which requires care at a specialized center. For more information on specific drugs for rare diseases, visit the Orphanet - Orphan Drugs website.

Where can I find information on individual clinical pictures?

Orphanet - Rare Diseases offers comprehensive information on individual clinical pictures. Here you can search for disease names, genes or an alphabetical list, for example. Patient organizations also have in-depth knowledge of their illness and provide relevant information material.

In which cases can or must the treatment take place abroad?

For some rare diseases there are no or insufficient treatment options in Austria, so that treatment in specialized centers abroad is necessary. The national contact point for cross-border healthcare ("contact point for patient mobility") provides information on organizational processes, requirements, etc.

How do I find out if there is a clinical study on my condition?

Orphanet Research and Clinical Studies provides information on current studies and searches for research projects on specific rare diseases. In addition, patient organizations and self-help groups are usually up to date.