New rare disease alliance champions patients

A Geneva couple knew there was something wrong with their daughter, Charlotte, when she was an infant.

But it took two years of consultations with medical specialists without any diagnosis before they discovered she had Sanfilippo Syndrome, a rare metabolic disease for which there is no known cure.

The disease, which afflicts one in 70,000 individuals, is caused by a genetically inherited defect that makes the body unable to break down sugar molecules, something that affects the brain and can severely retard mental development.

Worse, it can leave to shortened life expectancy, among other complications.

Yet when Charlotte’s parents finally learned of their daughter’s affliction they were told to contact a French association on the Internet because no help in Switzerland was available.

It was cases like this that prompted Dr. Loredana D’Amato Sizonenko, a pediatrician and medical geneticist at the University Hospitals of Geneva (HUG), to seek changes by helping to set up a network to help patients and practitioners seek more information about rare diseases.

The result is ProRaris, which aims to inform families, doctors and researchers while raising awareness among the public and politicians of the needs for better policies to deal with uncommon maladies.

“It’s really about the empowerment of patients,” Sizonko told Swisster of the network, which is formally launching on Sunday, February 28, to coincide with the third international Rare Disease Day.

More than 7,000 rare diseases, classified as those those affect one in 2,000 people or less, have been identified worldwide.

They impact an estimated 500,000 people in Switzerland - about 6.5 percent of the population - and yet this country is ill-prepared to deal with them compared to the United States and leading European countries, such as France, Sizonenko said.

“Switzerland is behind,” she said.

Up until recently there has been no way of providing information to patients and medical professionals about where to find the expertise necessary to deal with rare diseases.

“Even if the diseases are different, the difficulties are common,” Sizonenko said.

The network complements Orpha-Net Suisse, a website that she co-ordinates, that provides a database of information about rare diseases - considered like “orphans” - and medicine to treat them.

The website offers information in Switzerland’s three languages, as well as in English, Portuguese and Spanish.

It provides a resource that links information about what clinics are specialized in dealing with what diseases and where help can be found.

ProRaris also aims to serve as a platform to promote the need for policy changes.

Sizonenko said the United States adopted the Orphan Drug Act in 1983 that allows for the financing of drugs for rare diseases that pharmaceutical companies could not otherwise develop commercially because mass marketing of such medicine is not possible.

The legislation offers incentives, such as tax exemptions, to develop drugs.

The European Union followed suit much later and Switzerland has benefited from this, but receiving reimbursement for such medication from health insurance plans remains a problem, Sizonenko said.

Meanwhile, if the only available treatment and medicine is outside Switzerland, patients are often not covered by insurance, she said.

On top of this, communication in Switzerland is complicated by the country’s three official languages, Sizonenko said.

The roots for the ProRaris were planted last March in Geneva at a meeting that brought together 40 patient organizations concerned with rare muscular, metabolic and skin diseases, among other maladies.

A total of more than 100 such associations exist in Switzerland but they have never had an umbrella group to represent them before, Sizonenko said.

In addition to acting as a spokesman fro such groups, ProRaris aims to bring together the expertise necessary to encourage innovations in public health care and to promote needed medical research.

It plans to closely coordinate its activities with Eurodis, a similar European organization, which which it plans to share information.

“We are finally going to bring (patients with rare diseases) out of the shadows, defend their common interests and make their voices heard at the highest level to release tem from their isolation and distress,” Bhira Meyer, vice-president of L’Association Enfance et Maladies Orphelines, said in a statement.

“That’s what motivated and justified the creation of ProRaris,” said Meyer, who was also involved in the umbrella group’s creation.