For carers

When you are told that a relative or a dear friend has a frightening diagnosis, it can be an awful shock.

When it is also a very rare condition they face added problems such as difficulties of diagnosis, lack of clear information and variations in advice and treatment.

Of course, it’s very likely that with such a rare disorder they might never meet another person with the same condition. Hence the need for a support network like ours, and the chance of meeting each other at the conferences we organise.

What rare diseases are

Rare diseases are, by definition, infrequent and are also poorly understood and studied; they often lack adequate therapy. The hallmark of rare diseases is that they require specialist and continuous assistance to such an extent that it requires major public investment. An exact definition of rare disease does not exist.

There are various “lists” of rare diseases that correspond to a reference definition or to a specific interest of the association or working group that produced it.

The American classifications available include a number of diseases that ranges from 500 (National Organization for Rare disorder – NORD) to 1,100 (Office of Rare Diseases – National Institutes of Health) and up to 5,000 in Canada and the UK.

In France the Orphanet project proposes a list of 5,000 rare diseases in alphabetical order.
In Italy the Ministry of Health, following the indication of the National Institute of Health, has published a list of 503 rare diseases that permit exemption from paying the NHS ticket; they are subdivided into categories (e.g. metabolic diseases, genetic diseases, infectious diseases).

The statistic of 5,000 known rare disorders is continually growing as medical science advances. They affect both children and adults and can occur at any time of life. Many disorders are chronic, progressive and disabling. Some are life threatening.

The European Union’s definition of a rare disorder, is a condition which affects 5 or less people in every 10,000.
Individually, rare disorders affect relatively few. Collectively they affect the lives of between 5 to 8 per cent of the European population or 25-30 million people.

It is estimated that up to four million children and adults are affected by rare disorders in the UK .
Collectively, this is more than those affected by heart disease (using Department of Health figures for angina and heart attack). Heart disease has been identified as a public health priority, with funds allocated for research and prevention, yet rare disorders generate no such attention on the Public Health agenda.

Rare Disorders in the United Kingdom

The large numbers of people affected, as well as the severity of some of the disorders, means that those with rare disorders have to compete for equal access to health resources and social services. In the UK there is little recognition of rare disorders at a national level. The government has yet to take on board the recommendations of the European Union to consider rare disorders within the context of public health programmes (Article 6(2) of Decision 12951991EC).

There is currently no monitoring or collation of statistics for rare disorders, individually or collectively. Only support groups are keeping any records about how many people are affected by each disorder. This is valuable information which could be used to develop and target services, as well as provide a basis for research.

It is common for a family to be told on diagnosis that they are the only one affected by the disorder, only to discover at a later date that there are others with the same diagnosis.

The needs that have to be met

The need to improve and make interventions more meaningful is the only common denominator of rare diseases. The rarity of the diseases is such that they do not produce a desirable market and the only way to overcome the injustice of this situation is to co-ordinate public action able to support and direct interventions.

  • Need for greater theoretical information.
  • Need for more rapid and relevant diagnosis.
  • Need for greater access to the therapeutic approaches that are already available to be tried.
  • Need for new treatments.
  • The greatest need is to make available what is already known and what can be done, to the people who are closest to the patient.

Thus, it is important to promote the interaction between the world of information and the world of service and the connection between services and families. This can be achieved using resources such as this website to produce and circulate information for as many carers as possible.

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Last updated 15th September 2010. Originally added 23rd July 2010.
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