Rare Disease Day was established in 2008 to create an annual day of action drawing attention to the needs and living conditions of people suffering from diseases that occur only rarely. Quite deliberately, the first Rare Disease Day was held on February 29, the leap day that occurs only every four years.
In all other years - as now in 2025 - the day of action takes place on February 28. Among other things, this day has led some universities to establish their own institutes for rare diseases and to develop new, specialized diagnostic procedures for detecting them.
Each time, this day has a special theme to highlight different aspects of rare diseases and their associated circumstances. Under the theme “Rare, Not Alone”, people affected are encouraged by connecting with others who are ill and recognizing that they are not left alone with their fate.
Many people affected therefore draw attention to themselves and their situation on Rare Disease Day through art campaigns and creative self-portraits, sharing their experiences with other ill and healthy people.
The works can be viewed in the “Rare, Not Alone” online gallery. Public exhibitions are also held, for example at Dresden Central Station on February 28.
Which diseases are considered “rare diseases”?
Rare Disease Day focuses on diseases that are so rare that they often do not enter the public consciousness. A disease is generally classified as “rare” when, on average, fewer than one in 2,000 people is affected. In the EU, the definition is that rare diseases affect fewer than 5 in 10,000 people.
If fewer than 0.2 in 10,000 inhabitants are affected, a disease is even considered “extremely rare.” At present, around 17,000 rare diseases, most of them genetic in origin, are known worldwide, of which approximately 5,000 to 8,000 occur in Germany. More than 300 million people worldwide suffer from rare diseases.
These figures immediately make it clear that there are many different rare diseases and therefore also many people affected who deserve the attention of the public and of medical research.
A good 72 percent of rare diseases are genetic, and 70 percent of them begin in childhood. Cancer variants are also included in this figure, as one in five cancers is considered “rare.”
Rare diseases are often difficult to recognize at first because their symptoms resemble those of “ordinary” conditions and can even vary from patient to patient. The lack of scientific research and high-quality knowledge very often leads to misdiagnoses or delayed diagnosis.
In addition to high treatment costs, these conditions often entail a loss of autonomy due to their chronic, progressive, or degenerative nature and severely restrict the quality of life and self-determination of those affected.
Examples of rare diseases include:
Hereditary spastic paraplegia (HSP): Various degenerative disorders caused by gene mutations that result in spastic paralysis of the legs. People who are severely affected often depend on using a wheelchair.
Ullrich-Turner syndrome (UTS): A congenital disorder that occurs only in women and causes an abnormal distribution of sex chromosomes, which can lead to organ malformations and short stature and make pregnancy impossible or at least extremely high-risk.
Ehlers-Danlos syndrome (EDS): A collective term for a group of congenital disorders that manifest as connective tissue disorders. Typical features include hypermobile and therefore unstable joints. However, the skin, muscles, tendons, blood vessels, and internal organs can also be affected, and spontaneous ruptures can even pose an acute threat to the lives of those affected.
Guillain-Barré syndrome (GBS) A neurological disorder that causes inflammation of the peripheral nervous system - primarily in the nerve roots of the spinal cord. Triggered by bacteria or viruses, correctly diagnosed GBS can be treated. Nevertheless, one in five people affected are left with neurological disorders such as acute muscle weakness or paralysis.
Willebrand-Jürgens syndrome: A so-called hemorrhagic diathesis. People with this rare disease have impaired blood clotting, which means that bleeding often takes a long time to stop. Extensive hematomas are particularly common in female patients.
Friedreich's ataxia (Friedreich disease): A degenerative disease of the central nervous system that primarily develops during youth. Specifically, it mainly causes hardening of the nerve pathways between the spinal cord and cerebellum, as well as the dorsal columns. Developing gradually and difficult to detect, Friedreich's ataxia can cause, among other things, musculoskeletal disorders, spasticity, swallowing difficulties, or (rarely) early-onset dementia.
Multiple system atrophy (MSA): Slowed movements, muscle tremors, muscle rigidity, or impaired movement coordination, as well as swallowing or speech disorders, could indicate MSA - a neurodegenerative disease that can affect various areas of the body and, among other things, lead to a rapid loss of motor control.
Retinitis pigmentosa: Also known as Patermann syndrome, this is a degenerative retinal disease that damages the photoreceptors in the eyes. Night blindness, tunnel vision, and impaired color vision are typical symptoms of this eye disease, which can lead to complete blindness.
Osteogenesis imperfecta: Also known as “brittle bone disease,” it manifests as bone fragility, causing the bones of affected individuals to break very easily. This rare hereditary disease is caused by a mutation in the genetic information for type I collagen, resulting in reduced stability of the bone tissue. Affected individuals are heavily dependent on orthopedic products and physiotherapy to participate in public life.
Rare Disease Day has already led to a change in thinking in many medical fields and to stronger international cooperation. The fact that affected individuals are making a difference through their open approach to their experiences and their unbroken will to live can be seen, for example, in the number of participating nations. While the first Rare Disease Day was held in only 18 countries in 2008, more than 100 countries already took part in 2024.
How can you help and support people with rare diseases?
Do you have relatives or friends who suffer from rare diseases and want to support them more? Simply being willing to understand the affected people’s special circumstances and adapt to them can make a big difference.
The feeling of isolation is one of the greatest psychological problems faced by people with rare diseases. So show understanding and let them explain the challenges they experience every day.
Patient listening and lived empathy can help these people a great deal, as they make them feel less alone. Show understanding that your friends, relatives, or acquaintances cannot live in the same way as much of the healthy population.
Offer your help with shopping, household chores, and especially physically demanding tasks such as cleaning or doing the laundry. If you have the necessary expertise, you could ensure that the living space is made accessible and safe. This could involve simple measures such as installing grab bars in the bathroom or laying non-slip rugs.
Of course, people who are ill should always be encouraged to do as much as possible themselves so that they can maintain an independent participation in life - safely supported by knowing that someone will be there to help if needed.
Try to help people with rare diseases maintain the social participation that has become so difficult.
Keep them company and take them along on outings. These might include walks in the park, visits to relatives and friends, or activities in the safety of their own home. Play board games, cook together, or watch films together.
Naturally, nursing support is also conceivable for rare diseases. This may involve ensuring that medication is taken correctly and regularly, or accompanying those affected to doctor’s appointments or therapy sessions.
Sometimes, you could even do necessary physical therapy exercises together at home or in a practice, or at least help with them. Physical therapy and occupational therapy play an important role in treating many rare diseases.
- In hereditary spastic paraplegia (HSP), regular, gentle stretching exercises are performed, for example, to improve mobility and reduce muscle stiffness. Heat packs or warm baths are intended to relieve muscle tension.
- In Ehlers-Danlos syndrome (EDS), gentle sports with minimal strain, such as swimming or yoga, can help strengthen the muscles without putting strain on the joints and tendons.
- Guillain-Barré syndrome (GBS) also requires occupational and physical therapy as early as possible to restore muscle function after an illness. In many cases, respiratory therapy is also used, as GBS can negatively affect the respiratory muscles.
- In Friedreich's ataxia, coordination exercises are used to improve the patients' balance and fine motor skills.
Of course, it is always important that the person with the rare disease feels comfortable with the amount of attention and help they receive. The key to successful support is finding the balance between assistance toward self-help and an appropriate level of outside help in order to strengthen the independence and quality of life of those affected.
Aids that make everyday life easier for people with certain rare diseases
For many rare diseases, it is necessary to buy certain orthopedic products such as rollators, wheelchairs, or walking aids in order to participate in everyday life as fully as possible. In all chronic conditions that affect the musculoskeletal system, physical strength, or coordination, suitable walking aids can noticeably improve the lives of those affected. Walking aids such as crutches or walking frames are essential aids that provide stability, help reduce pain and exertion, and generally enable a more active, self-determined life.
Here are some concrete examples of why buying walking aids can make sense:
- Hereditary spastic paraplegia (HSP) causes progressive stiffness and weakness in the legs. Mobility aids help people maintain their balance and prevent falls. Depending on the severity of the disease, walking sticks, crutches, or rollators can help those affected remain without a wheelchair for longer.
- In the hypermobile form of Ehlers-Danlos syndrome (EDS), hypermobile joints cause instability and pain. Rollators or walking sticks relieve the joints by supporting some of the body's weight, thereby helping to prevent injuries.
- In cases of Guillain-Barré syndrome (GBS), rollators or walking frames are often used temporarily during rehabilitation to compensate for acute muscle weakness.
- People with Friedreich's ataxia can buy mobility aids to remain able to walk independently for longer despite progressive coordination problems.
- People with multiple system atrophy (MSA) face a rapid loss of motor control. Rollators with comfortable seats are particularly helpful here, providing safety and opportunities to rest.
- In osteogenesis imperfecta, also known as brittle bone disease, crutches or walking frames relieve the strain on the legs and help prevent falls.
In short, suitable walking aids improve the lives of people living with rare diseases as follows:
- Mobility aids provide greater independence because they help people manage their everyday lives independently.
- Suitable orthopedic products can help reduce pain because they reduce the strain on weakened muscles and joints.
- Crutches help prevent falls and minimize the risk of injuries.
- Mobility aids improve social participation because they enable those affected to take an active part in public life again.
- Maintaining mobility can sometimes delay the need for a wheelchair. However, modern, lightweight wheelchairs naturally also make it possible to actively participate in everyday life.
We wish everyone living with a rare disease, on this day and every day that follows, great strength to keep going and never let themselves be defeated. With each passing year, global awareness and the willingness to invest in researching and treating the rarest diseases continue to grow. You are “Rare,” but you are not alone!
