New approach urged for rare diseases

Renowned British physicist Stephen Hawking suffers from motor neurone disease. Keystone

The lack of a national strategy to define and combat rare diseases is hampering diagnosis and treatment efforts in Switzerland, experts say.

Medical professionals, patient activists and community leaders hope Switzerland’s second annual Rare Diseases Day on February 26 will raise both community awareness and funds for research.

It is believed that up to 500,000 Swiss, some 15 per cent of the population, may be living with a rare disease, many of which have no cure.

Dubbed Wissen Heilt! (Knowledge Heals!) the Swiss campaign is sponsored by the Federal Health Office.

It is estimated there are between 7,000 and 8,000 rare diseases, the majority of which are genetic in origin and which affect children in particular.

Switzerland has yet to set out a formal definition for a rare disease. However in the United States, the Rare Diseases Act 2002 defined a rare disease as a condition that affects less than one in 1,500 people.

 

No definition

Robert Derham, president of the Basel-based non-profit Access Association which is coordinating the awareness campaign, told swissinfo.ch the lack of a Swiss definition of rare diseases is in part a function of the country’s health system being fragmented along cantonal lines.

“Each canton is tied in very strongly to its own medical and health programmes,” Derham said. “There is also no government system set up [with] guidelines for defining a rare disease, how it is different, why it has to be treated differently and so on.”

Head of haematology at Basel University Hospital Jakob Passweg told swissinfo.ch that although the localised health system can be good for patients, it can be a disadvantage in rare disease cases because diagnoses and treatment are not centralised.

“The fragmentation [in the health system] can also cause difficulties for rare diseases because it is more difficult to build the necessary expertise,” said Passweg. “Do we have any particular national strategy on rare diseases? Not that I know of.”

 

Difficult to diagnose

Passweg notes rare diseases are difficult to diagnose because general practitioners rarely encounter them.

“There are added difficulties in that some of the tests to make a diagnosis are not readily available or readily known,” he said. “Sometimes they are only available in foreign countries and we have to organise that blood samples are sent abroad.”

Fifty-five-year-old Coby Oren, who suffers from Idiopathic Pulmonary Fibrosis (IPF), a rare disease that causes progressive scarring of the lungs and affects their ability to provide oxygen to the body, says doctors initially diagnosed an inflammation and sent him home with antibiotics, before a specialist in Zurich correctly diagnosed IPF.

“On a normal day the doctor could not see that there was anything wrong with me … but when I do physical things my breathing is deeper and deeper and if I carry things I start to cough,” he told swissinfo.ch.

As with most sufferers of IPF, Oren’s disease first manifested itself when he was nearing his 50th birthday. At the time of Oren’s diagnosis IPF sufferers had a life expectancy of two years. That was five years ago, and although lung tissue scarring is irreversible and Oren now has a lung capacity of just 51 per cent, treatments have progressed rapidly during that time.

“Doctors have learnt a lot in the past five years,” said Oren, adding that it is believed some 150,000 people in the US are living with the condition. “I think that there is a solution for this disease.”

 

Cost factor

A major challenge facing sufferers of rare diseases is that treatment costs often far exceed costs associated with more common diseases, and insurers can be reluctant to pay. Several countries, including Switzerland, have moved to cap the cost of medical treatments for individual cases.

In November 2010, Switzerland’s Federal Court, ruling on a case involving a patient whose treatment for muscular dystrophy cost some SFr600,000 a year, effectively mandated that treatment costs for a single patient should not exceed SFr100,000 per life year saved.

Passweg, while clarifying he has not read the full judgement, describes the ruling as “worrisome”.

“The problem is this discriminates against rare diseases because developing treatments for rare diseases is obviously expensive,” he said.

Derham blames the decision on a lack of federal guidelines for rare diseases. “It might just be a legal decision based on the system trying to be blind and treating all diseases fairly and equally, but intrinsically you can’t treat all diseases as equal,” he said.

 

Knowledge Heals!

Stakeholders agree that education, not only for sufferers of rare diseases but of the general public, is key to improving outcomes.

“We live in a day and age of patient empowerment,” said Passweg, pointing to the wealth of information available on the internet.

Derham says international collaboration is vital to power research efforts, but also for community and patient groups looking to organise their efforts.

“It’s important to think internationally and work locally,” he said.

Oren says that researching information about his disease has helped him to cope with his condition and remain positive.

“How long have I got? I don’t know. Research and learning by yourself is the best thing you can do,” he said. “I don’t remember who said that we fear for the unknown but when you know, you know what to expect. Knowledge will bring peace, that’s my thought about it.”

Facts and figures

There are over 7,000 known rare diseases.

One in ten people suffer from a rare disease.

30 million people in Europe have a rare disease.

In Switzerland the figure is estimated at 500,000.

75 per cent of those affected are children, and 35 per cent will die before their fifth birthday.

In Switzerland there are 52 drugs approved to treat rare diseases.

Rare Diseases Day

International Rare Diseases Day is February 29, a date chosen because it is, in itself, rare.

Two action days are being held in Switzerland. ProRaris Alliance of Rare Diseases hosted an information day on February 19 at the Kursaal convention centre in Bern.

The Wissen Heilt! campaign will host a symposium to discuss rare disease diagnosis and treatment issues at Basel University on February 26.

Funds raised by Wissen Heilt!! will be donated to the Gebert Rüf Foundation which supports academic research for rare diseases.