People living with rare diseases ask for plans

People living with rare diseases ask for plans, or national strategies, in 25 European countries.

Diagnosis

Health professionals have long been so helpless in front of a rare disease that they often did not even dare to make a diagnosis.  Not any more. Diagnosis is now available for about 1,900 diseases, though not one single European country can provide all existing tests. Use of existing treatment and drugs has improved. Increased numbers of orphan drugs are now on the market. Rapid progress is made in advanced therapies. Today no one should have the right to say to a family: “nothing can be done”.

EurordisCare studies* show that diagnosis alone considerably improves quality of life  and life expectancy by reducing unnecessary medical interventions, inappropriate treatments (including psychiatric), the birth of other affected children, maladapted family behaviour and the loss of confidence in medecine.

No diagnosis: no treatment. For example: gene therapy, recently successful for children born with adrenoleukodystrophy, must be implemented as early as possible in life to prevent irreversible brain damage.

National plans

How to give isolated patients and families equal access to early diagnosis and care? By bringing together all available expertise and resources. In 1993, Denmark organised two centres of expertise for rare diseases, then Sweden and Norway. In 2001, Italy designated regional centres. France implemented the first national plan for rare diseases from 2005 to 2008, soon to be followed by Bulgaria, Romania, Spain and Portugal. Following the Recommendations of the European Council of Ministers, plans are currently in preparation in Germany, Hungary, Ireland, Denmark, Sweden…Everywhere, patients and their associations are playing a key role throughout the process.

What do we want in a national plan or strategy? Integration of all initiatives and resources: improved diagnosis linked to better awareness, information, training of professionals, clinical laboratories and centres of expertise; centres of expertise instrumental for research, registries and clinical trials, good practice guidelines, improved social care. Last but not least, long term sustainability of appropriate health and social policies, vital necessity for 30 millions patients affected in Europe by one of the 6,000 to 8,000 rare diseases.

source: rarediseaseblogs