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The reality of rare diseases

A sample coming out of liquid nitrogen (Credit: Pablo Rojas, Wellcome Images)

A sample coming out of liquid nitrogen (Credit: Pablo Rojas, Wellcome Images)

Today is Rare Disease Day, which aims to raise awareness of conditions that few people have heard of. Farhana Ali, Executive Officer for Rare Disease UK (RDUK), the national alliance for people with rare diseases and all who support them, explains why research into rare diseases is so important.

Imagine that you or your child is diagnosed with a disease that you’ve never heard of, one for which there is no treatment, only a baffling array of medical appointments to treat various symptoms. That’s the experience of many people diagnosed with a rare disease.

Most such diseases affect multiple parts of the body. For example, muscular dystrophy, a condition which causes muscles to waste and weaken, can affect muscles in the limbs, chest, heart and face. There are many different types of muscular dystrophy and their severity can vary greatly from person to person. Patients with the condition have complex and long-term healthcare needs, which means that a range of different health professionals need to be involved in their care and treatment.

To be defined as rare, a condition must affect less than five in 10,000 people. One in 17 people in the UK will be diagnosed with a rare disease at some point in their lives — that’s 3.5 million people. It’s often said that rare diseases aren’t rare when you consider them together — if 3.5 million people had one particular condition it would be seen as a huge public health problem.

But it’s precisely because these diseases are rare that they can be so troublesome for patients. For one thing, they’re difficult to diagnose, almost half of patients wait for more than a year for an accurate diagnosis, and a tenth wait for 10 years.

Even with a diagnosis, it can be difficult to find accurate information or people to talk to about a rare disease. Family and friends are less likely to know about the condition, and there are fewer support networks than for more common diseases.

Rare diseases tend to be genetic. The majority affect children and 30 per cent of patients affected by a rare disease die before their fifthbirthday. Care is often concentrated on managing a variety of symptoms — which means seeing lots of different healthcare workers, bouncing around the system in an uncoordinated fashion.

Treatments aren’t always available for rare diseases, sometimes because it’s difficult to raise funds for research for diseases that affect so few people. Where treatments are available, they can have a significant impact on the lives of patients. For example, one patient who was diagnosed with a rare type of anaemia called paroxysmal nocturnal haemoglobinuria was initially given a life expectancy of 10 years, but after appropriate treatment was administered her life expectancy was restored.

The theme of this year’s Rare Disease Day is ‘Rare Disorders without Borders’, emphasising the fact that efforts in rare disease research have more chance of succeeding if teams of researchers all over the world work together to understand diseases and find therapies.

Collaboration in research is key, and that’s why we’re pleased to hear about the establishment of the GAUCHERITE consortium, an MRC-funded project which aims to improve the care of people with Gaucher disease, a rare genetic disorder in which a build-up of fatty chemicals causes bleeding, painful skeletal complaints and swelling of some internal organs. GAUCHERITE will bring together specialist doctors and scientists, led by Cambridge University, who will examine at least 85 per cent of all UK Gaucher patients and ‘stratify’ them by the nature of their disease to allow them to better target therapy interventions.

This is an exciting year for us — by the end of 2013, all European member states should have developed or implemented plans for research into rare diseases, and how to treat and care for patients with them.

We’ve been helping to develop a National Plan for Rare Diseases, and to shape its content we’ve been working with people who have rare diseases and the researchers who work on them. This time next year we hope to have some good news to share.

Farhana Ali

Rare Disease Day was established on the ‘rare day’ of the 29 February 2008. RDUK is an initiative of Genetic Alliance UK, the national charity representing patient organisations supporting all those affected by genetic disorders.

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