Introduction
When a family are told their child has any disorder it can be a very difficult time, when that disorder is rare a family can experience a whole range of added challenges. Many families who have a child with a rare disorder face difficulties during diagnosis, a lack of clear information and sometimes a variation of advice and treatment. Some people who have grown up to adulthood with a very rare condition may have never met another person with the same condition.
Case study - David
David has a very rare disorder called Pallister Killian Mosaic syndrome. It is thought that only 30 people world wide have been identified as having this disorder. Although doctors realised by the age of 6 weeks that David was not developing in the normal way it was 2 years later - 2 years of hospital visits and tests - before a name was given to David's disorder. David has learning, sight and hearing difficulties caused by Pallister Killian Mosaic syndrome. Many families like David's experience the isolation of not knowing anyone going through the same experience as theirs. Contact a Family was able to help David and his family by putting them in touch with a similar family. David is now a teenager with the build of a teenager but the learning age of a six year old. Knowing that there are other families who understand the problems they face is a real help. Many disorders are individually rare but the total burden for such families is enormous.
Case study - Margaret
Margaret is now 65 years old and a grandmother. However, as a baby she was in intensive care fighting bronchial pneumonia and as infection followed infection no one could understand why. Despite this Margaret became a head teacher. 50 years later Margaret was diagnosed at last as having Common Variable Immunodeficiency which lead to a life time of bowel, chest and joint disorders. Today it is known that there are about 600 children and adults in the UK with Common Variable Immunodeficiency. Now children with this disorder are more easily diagnosed and avoid the life time of illness that Margaret experienced. Margaret is now keen to ensure that the issues of diagnosis and lack of knowledge about rare disorders facing individuals and families are addressed as a priority.
What is a Rare Disorder?
There are over 5,000 known rare disorders, a statistic which 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.
A range of expert information from verifiable sources such as universities, government libraries or hospitals on rare disorders can be found on the Internet.
However if you are new to finding medical information on the internet you may wish to read our leaflet on finding medical information on the internet before you refer to the sites below:
The Contact a Family Directory - the essential guide to medical conditions, disabilities and support
The Online Mendelian Inheritance in Man
The National Institutes of Health, US National Library of Medicine
Orphanet
Statistics
- 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 5-8% 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 Matters
Contact a Family West Midlands undertook an 8 month project during 2003/2004 to help parents of children under 5 years of age with rare conditions access mainstream early years services in Birmingham.
Parents' views were sought on their experiences of using mainstream services, through postal and telephones surveys and a workshop specifically for parents of children with rare disorders. This report gives messages from parents of children of rare disorders to staff working in Early Years settings.
How Rare is Rare?
Out of 15,000 children born with a disability in the UK each year, at least 1,200 will have a rare condition. Most rare conditions are known as "orphan diseases", meaning conditions which are so rare that they have not attracted funding for the development of treatments. Sometimes there is only one known case of a particular condition in the UK; more often numbers range from a few children up to as many as 200. The term 'ultra orphan' is also used to define the rarest conditions.
Some conditions seem to be rare, but as diagnostic techniques improve their incidence turns out to be higher. Receiving a diagnosis can be slow as paediatricians and GPs meet few of these conditions during their career.
Although mapping exercises are very valuable, the majority of rare disorders do not have support groups from which statistics can be gathered.
Undiagnosed?
Many families caring for a child with obvious disabilities never receive a definite diagnosis because the childs' symptoms do not conform to any known disorder, or are not recognised as so doing. The needs of these families can be very similar to those affected by a rare condition.
Rare Disorders in Europe
Eurordis is the European Organisation for Rare Disorders, a coalition of patient organisations geared toward improving the quality of life for those affected by rare disorders in Europe. It was created in 1996, to carry the voice of as many organisations as possible at a European wide level, to co-ordinate actions and to facilitate exchanges of information.
In 1998 the European Union recognised rare disorders as a public health issue faced by 5-8% of the population across Europe. It was agreed that a pan European approach would improve the situation of all those affected by rare disorders. Hence a Programme of Community Action on Rare Disorders (1999 -2003) was produced and funded for this purpose, designed to:
- Promote the development of a single and coherent information network on rare diseases.
- Promote transnational collaboration and networking between support groups and organisations.
- Contribute to the training of professionals in order to improve early detection, recognition, intervention and prevention.
- Support the monitoring of rare disorders in the EU Member States and promote the networking of professionals.
Orphan Drug Regulation
The first goal of Eurordis was to campaign for a European Orphan Medicinal Drug regulation. An Orphan Medicinal Drug Product is a treatment for a rare disorder, where the costs of developing the product are greater than the expected return on the investment. The European Commission ratified the Orphan Medicinal Products Regulations in December 1999. The legislation provides incentives to pharmaceutical companies to develop treatments for rare disorders.
British Paediatric Surveillance Unit
The British Paediatric Surveillance Unit (BPSU) was set up in 1986 under the auspices of the Royal College of Paediatrics and Child Health, the Health Protection Agency, and the Institute of Child Health (London). It's purpose is to enable paediatricians in the United Kingdom and the Republic of Ireland to participate in the surveillance and further study of uncommon disorders affecting children. Through the simple methodology of circulating monthly report cards to all paediatric consultants the unit has has also increased awareness within the medical profession of such diseases.
Over the past 17 years the BPSU has facilitated the study of over 50 rare paediatric diseases. Data from over 15,000 patients have been collated and analysed and have led to the publication of over 200 papers in peer review journals and 150 presentations here and abroad. The educational role of the Unit extends further to the publication of an annual report, quarterly bulletin, presentations and the holding of scientific seminars.
The BPSU has in its achievements surpassed its original expectations. Not only has the Unit supported researchers in the study of rare disorders but also the outcomes have had a substantial impact on public health.
Over 10,000 clinicians have now linked up to form the International Network of Paediatric Surveillance Units. Between us we have surveyed over 100 rare paediatric conditions; information is available from their website.
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