Rare diseases
So-called "rare diseases" are usually congenital. They are often difficult. Diagnosis and treatment are difficult. Read here about the rare diseases and the challenges they pose.
What are rare diseases?
Very different clinical pictures are grouped under the term “rare diseases”. What they have in common is that they meet comparatively few people. In the European Union, a disease is considered rare if no more than one in 2000 people in the population suffers from it. For some diseases, only a handful of patients are known worldwide. Precisely for this reason they are also referred to in some places as "orphans" among diseases and are in English asorphan diseases known (English orphan = Orphan).
How many people are affected by rare diseases?
Even if in and of themselves rather rare, there are still many rare diseases. More than six thousand different rare diseases are known to date. As a result, the total number of those affected adds up to an impressive number. Around 30 million people in the European Union suffer from a rare disease, around ten times as many worldwide. In Germany it is estimated that there are around four million people.
How do rare diseases express themselves?
Rare diseases are almost always chronic and often lead to severe, permanent impairments. Most are incurable and only a few can be treated well. Many rare diseases are life-threatening, and some patients die in childhood or adolescence. In around half of the patients, the first symptoms appear shortly after birth or occur in early childhood.
The symptoms of rare diseases can vary considerably.Usually they affect different parts of the body. Sometimes these symptoms are due to the rare disease of a single organ. One example is that Autoimmune hepatitis, in which the immune system attacks the liver, causing inflammation. In a few cases, the symptoms only occur in the affected organ, such as the Achalasia. Here the movements of the esophagus are disturbed.
Rare genetic defects are far more complex. Most of the rare diseases can be traced back to this. This includes, for example Marfan's Syndrome: A genetic change disrupts the structure of the connective tissue. The consequences are, among other things, heart valve defects, dangerous bulging of the blood vessels (Aneurysms) and vision problems.
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What rare diseases are there?
There are whole groups of diseases that are rare, such as hemophilia (Hemophilia). Sometimes only the individual diseases within a group are rare. One example is that Narcolepsy within the group of sleep disorders. Subforms of rare diseases like the Spinal muscular atrophy are accordingly even rarer.
Rare diseases from A to Z
Here you will find some rare diseases clearly in an A to Z list:
A.- Achalasia
- Albinism
- Alpha-1 antitrypsin deficiency
- Amyotrophic Lateral Sclerosis
- Angelman Syndrome
- Asperger syndrome
- Chorea huntington
- Churg-Strauss syndrome
- Creutzfeldt-Jakob disease
- Cushing's Syndrome
- Fibrous dysplasia
- Frontotemporal dementia
- Guillain-Barre Syndrome
- hemophilia
- Idiopathic thrombocytopenic purpura
- Kallmann syndrome
- Bone Cancer - Ewing's Sarcoma
- Lambert-Eaton Syndrome
- Marfan's Syndrome
- Addison's disease
- Cushing's disease
- Hodgkin's disease
- Osler's disease
- Wilson disease
- Cystic fibrosis
- Myasthenia gravis
- Myelofibrosis
- Munchausen Syndrome
- Narcolepsy
- Prader-Willi Syndrome
- Proteus Syndrome
- Reye syndrome
- Sarcoid
- Sjogren's syndrome
- Esophageal cancer
- Spinal muscular atrophy
- Treacher Collins Syndrome
What are the causes of rare diseases?
Around 80 percent of rare diseases are based on a genetic defect or are at least partly caused by it. Well-known example is theCystic fibrosis. Due to a genetic defect, body fluids are much tougher than usual, such as the mucus in the lungs. As a result, chronic inflammation develops in the organs concerned.
Also rare neurological diseases (nerve diseases) like Chorea huntington can be based on errors in the genetic make-up. In this deadly disease, those affected have to struggle with shooting movements and mental decline.
The rare genetic defects are inherited in families or are the result of a mutation in embryonic development. But there are also rare infectious diseases such as tuberculosis, rare autoimmune diseases like Lupus erythematosus and rare cancers like Bone cancerthat arise only in the course of life and are at most favored by genetic predispositions.
What is the special problem of rare diseases?
The first difficulties often arise when diagnosing rare diseases: Since they are so rare, they fall through the usual diagnostic grid. It can sometimes take a long time for a doctor to track down the cause of the symptoms.
In addition, doctors who deal with a rare disease are not easy to find and can often only be found in special facilities. And these specialist centers are often far away from the person concerned. This in turn makes patient care more difficult.
In addition, the "orphans" are often difficult to treat among the diseases. The research required for this alone causes problems: there is often a lack of sufficient patient numbers for reliable studies. If this is particularly small, the economic incentive may also be missing.
Furthermore, many rare diseases are very complex. They don't affect just one organ and often affect the entire body. This requires a multi-layered treatment concept in which experts from a wide variety of disciplines have to contribute.
In summary, rare diseases are a challenge for everyone involved. However, they are particularly stressful for those affected and their relatives. Therefore you have to take care not only of physical, but also mental issues.
Can rare diseases be cured?
Most rare diseases are genetic. This means that the cause of the complaints is (still) incurable. In addition, there are hardly any drugs for rare diseases that have been specially developed for their treatment. So doctors primarily try to alleviate the symptoms. And in some cases that is difficult to do.
But there are exceptions: Some congenital metabolic disorders, for example, if left untreated, result in severe developmental disorders. However, this can be successfully counteracted by taking timely measures - for example through a special diet Phenylketonuria or tablets for a congenital Hypothyroidism. Affected children then develop completely normally. Therefore, all newborns are tested for some rare diseases as part of a screening program.
In the case of cystic fibrosis, on the other hand, the treatment options have meanwhile improved to such an extent that many sufferers live significantly longer today than they did 20 years ago.
What is being done to improve the situation?
In order to improve the situation of people with rare diseases, politicians have created incentives to stimulate research and drug development. In addition, she participates directly financially in research projects.
With this in mind, the National Action Alliance for People with Rare Diseases was founded in 2010. This drew up an action plan published in 2013, which includes the following measures, among other things:
- Funding for centers for rare diseases
- Creation of a European Reference Network (ERN) to facilitate diagnosis and therapy
- Promote research into rare diseases
- Development of so-called "orphan drugs" ("orphan's drugs"), which are specifically used to treat rare diseases
- Improvement of information for practitioners and those affected
Since it is also not financially viable to invest a lot of money in research for "orphan drugs", which only benefit a few people, the conditions for drug manufacturers are also improved. For example, the authorities can offer a more cost-effective "Regulatory Affairs under exceptional circumstances ". The basis is above all the Orphan Drug Regulation of the European Union, which has been in force since 2000.
Where can people with rare diseases get help?
Rare diseases are a major burden for many people. Relatives and friends are also often overwhelmed by the situation. Helpful information, specialists and targeted treatment concepts are usually difficult to find.
In order to support people with rare diseases on this often arduous path, there are now various contact points, self-help groups and information offers. They are aimed at those affected as well as their family and friends. In the following list you will find important offers of help for people with rare diseases.
| Facility | description | website |
| Axis - Alliance of Chronic Rare Diseases | Umbrella organization for people with rare diseases and their relatives | https://www.achse-online.de |
| Orpha-Net | Initiative to promote research, diagnosis and treatment of rare diseases, the development of orphan drugs and information about the diverse clinical pictures | https://www.orpha.net |
| Federal Ministry of Health: Information on the subject of rare diseases | Information about rare diseases | https://www.bundesgesundheitsministerium.de/themen/praevention/gesundheitsgefahren/seltene- Krankungen.html |
| Orpha self-help | Privately initiated platform to meet people with rare diseases and their relatives | https://orpha-selbsthilfe.de |
| NAKOS | National contact and information site to encourage and support self-help groups | https://www.nakos.de |
Centers for rare diseases in Germany
Centers and clinics for rare diseases are spread all over Germany. Those affected can find specialized doctors here. They come from both pediatric and adolescent medicine and adult medicine. The aim is to find and coordinate the correct diagnosis, treatment and further care as quickly as possible.
The following table gives you an overview of centers for rare diseases in major German cities, sorted alphabetically.
| location | Facility | website |
| Aachen | Center for Rare Diseases Aachen (ZSEA) | https://www.ukaachen.de/kliniken-institute/zentrum-fuer-seltene- Krankungen-aachen-zsea |
| Berlin | Berlin Center for Rare Diseases (BCSE) at the Charité | https://bcse.charite.de |
| Bochum | Center for Rare Diseases Ruhr (CeSER) | https://centrum-seltene- Krankungen-ruhr.de |
| Bonn | Center for Rare Diseases Bonn (ZSEB) | https://zseb.uni-bonn.de |
| Dresden | University Center for Rare Diseases Dresden (USE) | https://www.uniklinikum-dresden.de/use |
| Dusseldorf | Center for Rare Diseases at the University Hospital Düsseldorf | https://www.uniklinik-duesseldorf.de/patienten-besucher/klinikeninstitutezentren/zentrum-fuer-seltene-heilungen |
| eat | Center for Rare Diseases (EZSE) | http://www.ezse.de |
| Frankfurt | Frankfurt Reference Center for Rare Diseases (FRZSE) | https://www.kgu.de/index.php?id=5512 |
| Freiburg | Freiburg Center for Rare Diseases (FZSE) | https://www.uniklinik-freiburg.de/fzse.html |
| Hamburg | Martin Zeitz Center for Rare Diseases | https://www.uke.de/kliniken-institute/zentren/martin-zeitz-centrum |
| Hanover | Center for Rare Diseases Hanover | https://www.mhh.de/interdisziplinaere-zentren/zentrum-fuer-seltene- Krankungen |
| Heidelberg | Center for Rare Diseases Heidelberg | https://www.klinikum.uni-heidelberg.de/interdisziplinaere-zentren/zentrum-fuer-seltene- Krankungen |
| Homburg | Center for Rare Diseases at the Saarland University Medical Center (ZSEUKS) | http://www.uniklinikum-saarland.de/einrichtungen/kliniken_institute/zentrum_fuer_seltene_ Krankungen |
| Cologne | Center for Rare Diseases Cologne (ZSEK) | https://www.uk-koeln.de/patienten-besucher/zentrum-fuer-seltene- Krankungen |
| Leipzig | Center for Rare Diseases Leipzig | https://www.uniklinikum-leipzig.de/einrichtungen/uzsel |
| Lübeck | Lübeck Center for Rare Diseases | https://www.uksh.de/zse-luebeck |
| Magdeburg | Central German Competence Network for Rare Diseases, Magdeburg / Halle (MKSE) | http://www.mkse.ovgu.de |
| Mainz | Center for Rare Diseases of the Nervous System Mainz (ZSEN) | https://www.unimedizin-mainz.de/zsen |
| Marburg | Center for Undetected and Rare Diseases (ZusE) | https://www.ukgm.de//ugm_2/deu/umr_zuk/27241.html |
| Minden | Johannes Wesling Clinic Minden | https://www.muehlenkreiskliniken.de/johannes-wesling-klinikum-minden.html |
| Munich | Munich Center for Rare Diseases (MZSE) | http://www.klinikum.uni-muenchen.de/Muenchener-Zentrum-fuer-Seltene-Erkrankungen |
| Muenster | Center for Rare Diseases Münster | https://www.ukm.de/index.php?id=9826 |
| regensburg | Center for Rare Diseases Regensburg (ZSER) | https://www.ukr.de/zentren/Zentrum_f__r_Seltene_Erkrankungen |
| Tubingen | Treatment and research center for rare diseases Tübingen | http://www.zse-tuebingen.de |
| Ulm | Center for Rare Diseases Ulm | https://www.uniklinik-ulm.de/zentrum-fuer-seltene- Krankungen.html |
| Wiesbaden | Center for Rare Diseases Wiesbaden | https://www.helios-gesundheit.de/kliniken/wiesbaden-hsk/unser-angebote/zentrum-fuer-seltene- Krankungen |
| Wurzburg | Center for Rare Diseases - Reference Center Northern Bavaria (ZESE) | https://www.ukw.de/de-untergebiete/behandlungszentren/zentrum-fuer-seltene- Krankungen-zese |
