Rare diseases have to be taken seriously (ENSERio)

SPECIAL REPORT

 

ENSERioA pioneering study on "The Healthcare and Social Needs of People Living with Rare Diseases in Spain" (Estudio sobre situación de Necesidades Sociosanitarias de las personas con Enfermedades Raras en España Estudio ENSERio) has been released by the Spanish Rare Disease Patient Federation (FEDER). The Study is important because it gives a clearer picture of the reality of those affected by rare diseases in a European country. 

 
The ENSERio Study investigated patients’ experiences and expectations regarding access to diagnosis, treatment healthcare and social services. It is based on interviews, discussion groups and a survey conducted amongst 715 People Living With Rare Diseases (PLWRD) across Spain. It confirms that most PLWRD are orphans of the healthcare system and are not well integrated in society.
 
“The book will give anyone reading it an idea of what it is like to live with rare diseases. It is the result of a year’s work with our member patient organisations who responded to our surveys and participated in our discussion groups, in an attempt to elucidate the situation of rare disease patients in our country,” explains Claudia Delgado, FEDER’s General Director. “This is the first time that the rare disease patient’s perspective goes beyond patients’ anecdotes by investigating experienced-based opinions in a quantifiable way. We expect this study to become the reference when speaking about the situation of PLWRD in Spain and that it will be a powerful tool to shape public policy in this area.”
 
Amongst the main conclusions, the document reveals a great deal of uncertainty and serious delays in diagnosis (although a group of diseases have made progress in this area). In terms of treatment, many respondeIndependencents affirmed they cannot access all the medicines prescribed, especially if they are orphan drugs or drugs for compassionate use. The study also highlights the fact that although PLWRD are often dependent on others to carry on their daily lives, their dependency is not always recognised as a disability because of lack of knowledge about their disease. Therefore, today, in Spain many PLWRD do not receive public aid in the form of disability benefits and most of the support (including financial support) is borne by the family.
 
Key findings of the ENSERio Study, include:
 
  • Average 5-year wait for final diagnosis, which results in lack of support or treatment (in 42% of cases); and inadequate treatment (in 27% of cases) and the worsening of the condition (in 28% of cases).
  • Limited access to all prescribed medicines.
  • 1 out of 2 PLWRD travelled outside of their province in the last 2 years in search of diagnosis or treatment.
  • In most cases daily care is given by family members without any social recognition.
  • Disease-related expenses represent up to 20% of patient’s annual income (not reimbursed by the State).
  • 1 in 3 PLWRD has a sensory, motor or intellectual handicap that, in more than half the cases, is disabling.
  • 70% are registered as ‘disabled’ but only a third have received disability benefits adapted to their needs. Their disability is not well appraised by public authorities because of lack of understanding of their disease.
 
“Thanks to the ENSERio Study the workload and financial cost borne by patients and their families is now known and quantified,” argues Dr. François Faurisson, Clinical Research Advisor at EURORDIS and the driving force behind the EurordisCare surveys. “The results are consistent with the ones encountered in other European countries. The EurordisCare2 Surveys revealed the delays in diagnosis faceEurordisCare surveysd by many rare disease patients and in EurordisCare3 it was obvious that PLWRD have serious difficulties accessing health care and social services that are adapted to their needs. It is clear that although each rare disease has its own specificity, people living with rare diseases share similar experiences and face the same difficulties.”
 
In order to help change this situation, FEDER has put in place a sophisticated communication plan meant to help patient organisations use the findings of the Study to raise awareness and advocate their authorities.
 
The Communication kit includes an executive summary, ready made letters, press releases and presentations. It suggests ways in which these tools can be used, by forwarding them to local authorities, organising email campaigns or bringing them up in meetings and conferences.  
 
“The Communication kit is a wonderful tool to help advocates make the most of the results of the ENSERio Study,” explains Rosa Sanchez, President of FEDER. “I hope this will help you advocate and carry out similar initiatives in your country.”
 

For more information (in Spanish only):

 
 
Author: Paloma Tejada
Photo credits: © EURORDIS; FEDER; Europa

 

 

Page created: 20/02/2010
Page last updated: 06/08/2013
 
 
The voice of rare disease patients in EuropeEURORDIS The international voice of people living with rare diseasesRare Disease International Bringing together patients, families and experts to share experiences in a moderated multi-language forum. RareConnect The Rare Barometer Programme is a EURORDIS initiative that carries out surveys to transform rare disease patients' experiences into figures and facts that can be shared with decision-makers.Rare Barometer An international awareness raising campaign taking place on the last day of February each year, Rare Disease Day is a EURORDIS initiativeRare Disease Day Join the largest gathering of rare disease stakeholders across Europe, at the biennial European Conference on Rare Diseases and Orphan Products. ECRD is a EURORDIS initiativeEuropean Conference on Rare Diseases