February 2020

Rare Diseases, Everyday Efforts

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February 29th is Rare Disease Day. EAP has decided to dedicate this month’s blog to the challenges of rare diseases in paediatrics across Europe.

the situation

In Europe, a rare disease is defined as one which affects fewer than 1 in 2000 people. There are estimated to be between 6000 and 8000 known rare diseases worldwide, many of which are predominantly paediatric disorders. Although individually rare, the cumulative burden of rare diseases is significant and may affect as many as 30 million Europeans (Dodge, 2011). It is estimated that 1 in 17 people will have a rare disease at some point in their lives (ICHP, 2018).

With the upcoming Rare Diseases Day on the 29th of February we would like to shine a special light on this subject. The main objective of Rare Disease Day is to raise awareness about rare diseases and their impact on patients’ lives. Rare diseases are already high on the EAP agenda, and EAP established its Rare Disease Working Group in 2010. Those interested can find a number of helpful documents on the EAP website here.

The problem has been officially recognised by the European Union for over 10 years. The European Council stated that “Rare Diseases are a threat to the health of EU citizens in so far as they are life threatening or chronically debilitating diseases with a low prevalence and a high level of complexity” (Van der Zeijden, 2010). In November 2009, a committee of experts on rare diseases (EUCERD, European Union Committee of Experts on Rare Diseases) was set up to play a role in drawing up guidelines for implementing EU policies relating to rare diseases. In 2014 the group was renamed as the European Commission Expert Group on Rare Diseases, and EAP is represented in that group (E Siderius).


Rare diseases have a significant impact on the everyday life of affected children and families. In 2009, the European Rare Diseases Patients Organisation (EURORDIS) published their “Voice of 12,000 patients”, intended as an information and advocacy tool for patients, patient organisations, health professionals, and health authorities.  Individuals with a rare disease and their families reported on years of waiting for a diagnosis, after misdiagnosis and numerous physicians’ visits. Some were rejected by health care professionals because of the complexity or associated symptoms. The Rare Barometer Voices survey (2011) found that:

  • 7/10 patients and carers reduced or stopped work due to their or their relative’s rare disease;
  • 2/3 carers spend more than 2 hours per day on disease-related tasks;
  • 8/10 patients and carers have difficulty completing daily tasks; and
  • 3 times as many patients or carers living with rare diseases report being unhappy or depressed compare to the general population.

This clearly shows the emotional, health and economic impact of rare diseases on patients and carers. Medications may be more expensive for rare diseases, and there is the potential added financial burden of multiple medical appointments, often at specialist centres, that may be expensive for the patient and family to travel to.

A study by Imperial College Health Partners (ICHP) found that whilst patients with rare diseases made up only 0.94% of the hospital population, they cost twice as much per patient. Additionally, diagnosing a rare disease may be an uncertain time for the patient – this study found that, in the UK, it takes an average of 5.6 years, 8 clinicians (4 specialists) and 3 misdiagnoses before the correct rare disease is identified (ICHP, 2018).


There are many good practice examples developed by dedicated clinicians and families in many countries.

  • At an international level, efforts are being made to gather registries of rare diseases; resources such as Orphanet provide information on known rare diseases, clinical features, directories of expert centres, laboratories and recommended tests.
  • Non-governmental organisations also play a vital role. EURORDIS-Rare Diseases Europe is a unique, non-profit alliance of 894 rare disease patient organisations from 72 countries aiming to work together to connect patients, families and patient groups, and strengthen the patient voice. It also works to bring together all stakeholders and mobilising the rare disease community to shape research, policies and patient services.
  • In the Netherlands, the importance of a key-player in the care of children with complex diseases has been recognised for many years. In 1995, a section on genetic diseases within the Dutch Pediatric Society was established to improve care for affected children. There are now 14 paediatricians specialised in developmental and genetic paediatrics in the Netherlands, and 3 fellowship trainees working in this field. Working together with paediatricians in their region in a structured network is crucial to success.

Our recommendations

The success factor of good care for complex disorders is cooperation. Appropriately qualified clinicians and a multidisciplinary team should work together to coordinate the care of children with rare diseases, including the diagnosis. If at all possible, networks should be established to reduce the time and financial burden placed on the family, and to allow them to receive coordinated care close to home.

The emotional and financial burden of rare disease on the patient and family should be recognised, with adequate resources to address it.  

The European Commission Expert Group on Rare Diseases highlighted the importance of developing codes for rare diseases. Having codes for each rare disease would help European and national authorities gather epidemiological data that could better inform knowledge of the burden of rare diseases; and their impact on the healthcare pathways. This would be useful for better budget planning and the identification of areas for clinical research. Resources such as Orphanet should be preserved and adequately maintained.

Last but certainly not least, the patient’s voice and the rare diseases community should be central in shaping research, policy and service direction.



Dodge JA et al. The importance of rare diseases: from the gene to society. Arch Dis Child. 2011 Sep;96 (9):791-2.

van der Zeijden A, Huizer J. Recommendations for the development of national plans for rare diseases. Orphanet J Rare Dis. 2010; 5 (Suppl 1): O3.

Official Journal of the European Union, Council Recommendation of 8 June 2009 on an action in the field of rare diseases

Siderius E. A data model for rare diseases. 2019. Available at

Imperial College Health Partners (ICHP), 2018 – available at

About the authors

Sian Copley represents UK paediatric trainees within Young EAP, and is the Young EAP Representative for Advocacy. She is a 5th year resident from the UK working in the North East of England.

Esmee Jacobs is a paediatric resident in Maastricht (NL) and Dutch representative for Young EAP.

Liesbeth Siderius is a Dutch paediatrician and the Chair of EAP Working Group on Rare Diseases.

Robert Ross Russell is the chair of the European Board of Paediatrics and a member of the Executive Committee of the European Academy of Paediatrics. He is a Consultant Paediatrician at Cambridge University Hospitals Foundation Trust in the UK.

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