AccessibAll are pleased to be celebrating Rare Disease Day 2026, a day dedicated to highlighting the experiences and raising awareness of over 300 million people worldwide who have a rare disease.

Every year on 28 February, Rare Disease Day is celebrated. This is an Awareness Day focused on educating and highlighting the impact of rare diseases, which are usually classified as affecting less than 1 in 2000 of the population. 28 February (or 29 February in leap years) was chosen as it is the rarest day of the year.

Quick statistics:

• Approximately 300 million people worldwide are rare disease patients
• This equals out to approximately 3.5% to 3.9% of the population
• In Europe, this is estimated to be 1 in 17 people
• 72% of these rare diseases are genetic
• It takes on average five years for rare disease patients to be diagnosed.

Rare Disease Day highlights some of the unique and specific challenges experienced by rare disease patients, which can often, at times be overlooked.

One of these is the lack of information on rare diseases. Due to the smaller amount of people it affects, it can be far more difficult to find correct and trustworthy information on symptoms, outcomes and other areas. As a result, this can delay people being diagnosed or even being able to identify the need to seek diagnosis early, compared to more commonly known and researched conditions and diseases.

Misdiagnosis can also become a common issue in tandem with lack of information. Overlap in symptoms can lead to people being directed towards a diagnosis for something else. This can again further delay the correct diagnosis. This can have a knock-on effect in regard to incorrect prescription of medication, side effects of that prescription, and a delay in improving quality of life for patients.

In addition, many people have multiple rare diseases simultaneously. This can cause overlap in symptoms, which again can direct them towards the incorrect diagnosis.

Treatment is another area which can be an ongoing challenge. Many rare diseases require specialised treatment and healthcare, which can be difficult to find. International collaboration and cooperation in research and treatment is extremely important in regard to rare diseases, so without this or with a delay in this, it can impact actually receiving the correct treatment and lead to symptoms getting worse or heavily affecting the individuals’ life. Funding for treatment may also arise as an issue related to lack of information which can be presented.

All of these areas can overlap and intertwine with one another, creating a web of problems for rare disease patients. Therefore, it is vital that healthcare professionals and support groups are able to listen and support patients.

Other areas

While the diagnosis and treatment of a rare disease are extremely vital, there are other areas of people’s lives that are impacted.

The effect of physical health on mental health has been long studied, with research finding that the strain on one can impact the other. Having your physical health affected by a rare disease, and the difficulty in being diagnosed and treated can surely negatively impact mental health, leading to anxiety or depression.

According to Rare Diseases Europe (EURODIS), 44% of people have had to consult more than 4 healthcare professionals before receiving a diagnosis. In addition, 70% have had to wait more than 1 year to get a confirmed diagnosis after coming to medical attention.

The mental strain this can take on someone, alongside their physical health symptoms, can be extremely demoralising and upsetting. To continually have to fight just to be listened to or have your symptoms taken seriously is more than someone should have to carry, particularly if it delays research or treatment.

The knock-on effect of this can impact employment and living conditions if someone is unable to provide diagnosis to their workplace, or to be able to explain their symptoms if they are being dismissed. This also negatively impacts mental and physical health, leading to a continuing cycle.

It is extremely important to be aware of poor mental health in those living with rare diseases, and to provide opportunities for them to share their thoughts and experiences, as well as continuing to seek better knowledge and research.

Actions we can take

While there is not one treatment or ‘quick fix’ for rare diseases, there are actions that can be taken to raise awareness and push for research.

Discussing rare diseases and their symptoms is incredibly important; putting faces to stories and starting conversations to acknowledge each rare disease can take away some of the stigma or dismissiveness that people face. There are rare diseases that only affect one person in the entire world, but they also deserve equal acknowledgement, treatment and support.

A recent report from Rare 2030: Foresight in Rare Disease Policy provided recommendations on the future of rare diseases. They highlighted the following:

• Faster, more accurate diagnosis
• Person-centred care
• Partnerships with patients
• Accessible and affordable treatments
• Innovative and needs-led research and development

These areas are at the forefront of European policy and research for rare diseases, with the aim of not only increasing diagnosis and treatment but also increasing the quality of treatment and experiences of rare disease patients.

Ultimately, ensuring that people are given the space to discuss their symptoms can provide opportunities to seek support as soon as possible.

To find out more about rare diseases, please visit the Rare Disease Day website. 

Published 28/2/2026