Rare Disease Day 2011 | www.eurordis.org

Rare Disease Day 2011
Mapping and battling inequalities in rare diseases

EB Haus children & Gabriela POHLA_gUBOFlorian suffers from Fragile-X syndrome, and for two years he has been waiting desperately for the renewal of his special “disability pass” that allows him to get through daily life a little more easily. “There is a definite lack of awareness in public service administration about rare diseases. They don’t know about this syndrome, for them it’s like any other disease, they don’t have a clue about the difficulties that Florian has endured since his card expired. Basically, at 25, he has become isolated,” explains Michèle Juniere from Mosaiques, a French X-Fragile association based in the suburbs of Paris. Rare Disease Day 2011 is set to highlight this kind of inequality, which leads to injustice and isolation of the patient. “We have so many patients that suffer from inequalities and are not recognised by the system. We must track down these malfunctions in our so-called welfare society,” concludes Michèle Juniere.

Every rare disease patient has a story of injustice to tell. For some it will be about obtaining life-saving treatments or being reimbursed for the costs of treatment, or about gaining access to specialised services or being considered eligible for disability compensation. Others encounter difficulty finding a job, getting into school, obtaining a loan or accessing life insurance.

Leo“Many rare disease patients are treated unequally when seeking health care, social services, education, employment and in other aspects of everyday life. This is usually because their disease is not well understood by their health system and society at large,” argues Anja Helm, Manager of Relations with Patient Organisations at EURORDIS. “These injustices are more or less serious depending on the disease and the place where the patient lives.”

The life of a person living with Epidermolysis Bullosa is not the same in Austria as in neighbouring Slovakia, for example. “In some countries, rare disease patients have to endure lack of medical specialists, great difficulties in reaching a diagnosis and absence of treatment,” says Dr Gabriela Pohla-Gubo, co-founder of DEBRA Austria and, since 2006, head of the EB Academy at EB House Austria. EB House Austria, founded in 2005, is an interdisciplinary clinical unit for diagnosis, medical care, academic affairs and research related to EB. Besides treating patients from Austria, EB patients from 18 other countries to date have visited EB House. “Though reimbursement can be a problem, cross border healthcare is provided, and includes communication with the referring physicians (for example, about post-treatment care), as well as training opportunities for foreign clinicians and laboratory personnel to enable patients to be diagnosed and treated at home, thus avoiding a long trip for the patient,“ says Dr Gabriela Pohla-Gubo. For her, this year’s Rare Disease Day theme is very important because “patients should have direct access to cross border health care and reimbursement should be provided for their travel and treatment costs.”

There are 40,000 patients with Cystic Fibrosis in Europe; depending on where they live, some die before their 10th birthday and others live well into adulthood, to their 30s or 40s on average. A study funded by the European Commission, published in the Lancet of March 2010, comparing CF across several European countries, shows a shocking disparity in the number of patients and age at death between older and newer Member States, independent of population size and underlying gene frequencies for CF. This inequality can most likely be explained by the tragic fact that many children born with CF die in early childhood in some EU countries due to lack of access to appropriate diagnosis and healthcare.

A survey conducted by the European Society for Paediatric Oncology (SIOPE) revealed the disparities in the availability and quality of childhood cancer care that currently exist in Europe. With 21 responses from EU Member States, only 5 countries: Austria, Belgium, France, Germany and Italy, have officially recognised regulations in place. “Every year in Europe, approximately 20,000 children and adolescents aged up to 19 are diagnosed with cancer. Approximately 80% of these patients manage to recover if they use the proper and best available methods of treatment. With the progress of knowledge, it is possible to develop new methods of treatment - less toxic and also more effective. However, it is necessary to create the possibility of introducing these methods into diagnostic and therapeutic standards and address the current disparity in treatment existing in Europe today,” says Professor Jerzy Kowalczyk, National Consultant in the Field of Paediatric Hematology and Oncology in Poland.

Sometimes a study highlights something other than expected. The Danish Haemophilia Society of Denmark conducted a study (2008-2010) of haemophilia patients. The intent of the study "A long life with haemophilia” was to map the quality of life, self-perceived health status, labour market status and expectations for the future in patients over 45 years old with moderate or severe haemophilia A or B, or von Willebrand type 3. It turns out that 68 % of the patients have jobs, a statistic in line with the figure for the general population; they make only limited use of provisions such as personal assistants and specialised equipment at work; and though they may retire earlier, they do not take more sick leave than their colleagues. But this generation of older haemophilia patients experience great difficulties in their daily lives. “20 years ago they were confident about the help they would receive, about finding a partner, but now they express worry about the future and they have problems finding a partner. This study has shown that haemophilia patients are alone and dread to be even more so in the future,” says Lene Jensen of the Danish Haemophilia Society.

“The existing health gaps amongst and within countries and regions in Europe are further aggravated for people with rare diseases,” says EURORDIS’ CEO Yann Le Cam. “It is our responsibility to promote all patients having equal access to the best care available, regardless of their disease and where they live.”

If you would like to share your story for Rare Disease Day, go to: http://www.rarediseaseday.org/article/rare-disease-inequality-stories-call

This article was first published in the January 2011 issue of the EURORDIS newsletter

Author: Paloma Tejada & Nathacha Appanah
Photo credits: © EURORDIS & EB Haus

Page created: 17/12/2010
Page last updated: 05/01/2011
Rare Disease Day 2011 | www.eurordis.org