Rare is many. Rare is strong. Rare is proud. Rare Disease Day, 28 February 2021

According to the European Union, a disease is considered rare if it affects no more than five in every 10,000 people. However, this captures an extraordinary range of conditions with an enormous variation in prevalence. Take Fabry disease, for example, which affects up to five in 10,000 people and compare it to the much rarer Abruzzo–Erickson syndrome, which affects fewer than one in 1,000,000 people. Yet, despite some of these conditions individually affecting mere handfuls of people around the world, there are some 6,000 identified rare diseases that in total, affect over 300 million people worldwide – or as much as 6% of the global population.

Most rare diseases have an underlying genetic cause and are often hereditary, often manifesting during childhood, progressing in severity or variety of symptoms as patients grow and develop. Yet, despite the differences in symptoms, numbers of patients and times of onset, there are many similarities and common difficulties that set rare diseases apart from their more common counterparts.

Some of the key difficulties faced by those either diagnosed with or working in the field of rare diseases include:

  • Small patient populations
  • Lack of knowledge and experience
  • Absence of approved treatment options
  • Substantial impact on quality of life.

Small patient populations

Small patient populations can make it difficult for patients living with rare diseases to find support groups or develop support networks which are specifically tailored to their conditions, particularly in their local areas. Small patient numbers can also make it difficult for pharmaceutical companies to recruit enough patients to perform adequate clinical trials, hampering new drug development.

Lack of knowledge and experience

There is often a significant lack of knowledge around rare diseases outside of very specialist treatment centres, meaning patients are often misdiagnosed with more common ailments with similar symptoms; these individuals are often not treated correctly as a result. This also tends to make it difficult for patients to find information about their condition when, and often if, they are eventually diagnosed correctly.

Absence of safe, efficacious and approved treatment options

As a result of the poor awareness and small patient populations, many rare diseases do not have any particularly effective or even approved therapies and the treatments that are available are often based on empirical evidence from clinical practice. They also tend to focus on managing symptoms, rather than treating any underlying causes of disease. Even in cases where effective therapies are available, they often come with a high price tag and this has caused friction between pharmaceutical companies, healthcare professionals and patients in the past.

Substantial impact on quality of life

Rare diseases typically have a substantial impact on the quality of life of patients and sometimes carers. Many of these conditions cause severe symptoms that can, in some cases, become irreversible without the correct treatment. Also, the hereditary nature of many rare diseases means that patients may face difficult decisions relating to family planning; this can be particularly distressing for those who receive a diagnosis only after they have already started their families.

However, due to the many hurdles that they face, patients who are diagnosed with rare diseases are often some of the most well-informed, passionate and outspoken ambassadors for their conditions, driving progression and dissemination of new knowledge related to their condition. Indeed, rare disease patient advocacy groups (which are often established by patients themselves) can often be the source of substantial pressure on governments and healthcare organisations to ensure fair and timely access to potentially life-changing new medicines. An example of this is the Cystic Fibrosis Trust, which campaigned tirelessly to ensure that the government of the United Kingdom negotiated rapid access to novel therapeutic options; one of these agreements guaranteed access to a new treatment on the same day that the European Medicines Agency approved it for use.

More commonly, patients are being invited to sit on Scientific Advisory Boards and Scientific Committees organised by pharmaceutical companies as they become increasingly recognised as experts in their conditions. It is also really heartening to see how important the patient viewpoint is becoming in decision making by groups such as pharmaceutical companies, regulators and governments.

In light of the above, it is clear that there are some exceptional opportunities for the medical communications industry to work with different groups to help improve quality of care in the field of rare diseases. Medical communications professionals can lend their expertise to enhance the dissemination and understanding of new information and to help improve the standards of care in rare diseases, for example by:

  • Developing medical education initiatives alongside renowned disease experts – including patients – to drive awareness and improve diagnosis
  • Supporting patient advocacy initiatives, which can provide a forum for patients to share their experiences whilst also learning of cutting-edge developments related to their conditions from leading experts
  • Generating more accessible versions of key scientific publications/communications (such as plain language summaries and graphical abstracts)

It is a great privilege to be able to work in the field of rare diseases alongside many extremely brave and intelligent individuals, where day by day there are real and tangible advancements and improvements for patients and their families.

In the words of those living with rare diseases on this year’s Rare Disease Day: rare is many – there are people from all walks of life, with a wide range of skills, who are invested in raising awareness of the issues faced by patients with rare diseases and in helping to improve the situation for those diagnosed with a rare condition; rare is strong – as a collective, all of the proponents of rare diseases can have a significant impact in raising awareness and influencing all aspects of the diagnosis and management of rare diseases; and rare is proud – everyone who is involved in the field of rare diseases is proud to help make a difference, no matter how small, to the lives of patients and their families.

For more information, please see the following websites as a good introduction to the world of rare diseases:

Rare Disease Day: https://www.rarediseaseday.org/

Orphanet: https://www.orpha.net/consor/cgi-bin/index.php

National Organization for Rare Diseases: https://rarediseases.org/


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