08222017Headline:

Rare diseases: life with a condition and the UK situation

Buddug Cope

Genetic Alliance UK

In our rare disease focus month, Buddug Cope shares an overview of the situation for rare disease patients in the United Kingdom, looking at the challenges in diagnosis and management.

A rare disease is classed as affecting 1 person in 2,000 of the population. Unsurprisingly, many rare diseases are unfamiliar or unheard of by most people. In early 2013, over 6,000 different rare diseases have been identified and this figure continues to rise. About 75% of rare diseases affect children and approximately 1 in 17 people are affected at some point in their life which equates to 3.5 million people in the UK. Therefore, although a rare disease on its own may not be considered a significant issue, thinking about all the individuals is a considerable number.

Rare diseases vary in aetiology a great deal; 80% are genetic in their origin, and many are inherited; other rare diseases are congenital, others are late-onset. Some rare diseases are acquired and the causes of others are still unknown. But although rare diseases differ themselves, and individually are rare and unusual, patients and families frequently share similar issues and problems. These include diagnosis and management.

“…although a rare disease on its own may not be considered a significant issue, thinking about all the individuals is a considerable number.”

Many people with a rare disease experience a delay in receiving a correct diagnosis. A delay in diagnosis can be detrimental to the affected individual, their family and carers as well as for the health service. Often it means attending lots of GP or hospital appointments for investigations or tests, which takes time and effort. A correct and early diagnosis can make a big difference to an individual’s life expectancy and quality of life. Delays in diagnosis can result in missed opportunities for intervention or treatment, allowing conditions to worsen and sometimes become impossible to treat.

Once a diagnosis is confirmed, a patient should receive appropriate management, care and support for their condition. Patients often need to be managed by more than one specialist doctor and may involve a team of healthcare professionals; this is because many rare conditions affect different systems of the body. It is also vitally important that the doctor caring for the patient has knowledge, experience and is familiar with the particular rare disease as this can ensure the patient is receiving the best possible care; such as in successfully accessing a novel treatment or intervention, or the opportunity to take [art in a clinical trial, a research study or the opportunity to going a registry for the conditions.

“Many people with a rare disease experience a delay in receiving a correct diagnosis.”

Along with specialist clinical management; care and treatment comes information and support. Information helps a patient, their family and carers to understand the condition, its natural history and also how this can be managed effectively. Any patient receiving a diagnosis will benefit from information about their condition and knowing where to access sources of support. Often, with less known about a rare disease, there may be less information available about it from readily available and trusted sources, and it may be harder to find information. This can be difficult for affected individuals, their families and carers.

An important source of information and support for patients and families is support from patient groups, usually run by others affected by the same condition. Such groups or charities provide specific information about a condition and all associated issues in a form and language that is suitable for patients and families. The unique and shared perspective offered from patient groups include being able to talk to other people who are or have been in a similar position about particular aspects concerning the condition. Many patient groups are also in touch with other groups or families internationally. Some groups publish information on their websites, have good relationships with clinical specialists who are experts in the conditions and some know about research or trials involving their condition.

“In the UK, the current situation for people with rare diseases is at a point where there could be changes and improvements to the current situation.”

In the UK, the current situation for people with rare diseases is at a point where there could be changes and improvements to the current situation. In 2008, the European Union’s Recommendation on an action in the field of rare diseases set out proposals for a comprehensive, European Union (EU) wide, integrated strategy to support Member States on issues including diagnosis, treatment and care for rare disease patients. The recommendation outlines how EU Member States – including the UK – should develop and implement plans or strategies for rare diseases by the end of 2013.

In 2012, the four governments of the UK published a joint consultation on a national plan for rare diseases. Over 350 responses were made to the consultation, demonstrating the clear interest and importance of this area. The final plan is due to be published in 2013 – ahead of the deadline set by the EU. A key feature on the value and purpose of the plan will be that of its effective implementation across the four countries of the UK, with clear outcomes and measures to measure its success.

References

• Rare Disease UK (2011). Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy.Genetic Alliance UK, London, UK. Accessed: http://www.raredisease.org.uk/documents/RD-UK-Strategy-Report.pdf

• Genetic Alliance UK (2011). Patient Information Pathways: A Review of Best Practice of Information Delivery. Genetic Alliance UK, London, UK. Accessed: http://www.geneticalliance.org.uk/docs/patient-information-pathways-report-nov-11.pdf

About the author:

Rare Disease UK (RDUK) is the national alliance for people with rare diseases and all who support them. Membership is open to all and includes patients and family members living with a rare disease, patient organisations, clinicians, researchers, academics, and industry. RDUK provides a unified voice for the rare disease community, capturing the experiences of patients and families and raising the profile of rare diseases across the UK.

RDUK was established in 2008 following the European Commission’s Communication on Rare Diseases: Europe’s Challenges. Following this Communication, RDUK successfully campaigned for the adoption of the Council of the European Union’s Recommendation on an action in the field of rare diseases (June 2009). The Recommendation outlines how EU Member States should develop and implement plans or strategies for rare diseases by the end of 2013. Since the adoption of the Council Recommendation, RDUK has been actively ensuring that the UK’s health departments act on their obligation to develop a plan for rare diseases and we have been instrumental in engaging the rare disease community to shape the content of the proposed plan.

RDUK is an initiative of Genetic Alliance UK, the national charity representing patient organisations supporting all those affected by genetic disorders.

How can we improve the rare disease situation in the UK?

What Next?

Related Articles