Unity and empowerment for rare disease patients

INSIGHT

Hannah & Bjorn - Swedish Thalidomide Society president The World Bank has defined empowerment as “the process of increasing capacity of individuals or groups to make choices and to transform those choices into desired actions and outcomes [to] build individual and collective assets and to improve the efficiency and fairness of the organisational and institutional context which govern the use of these assets”.

Rare disease patients are often the leading “experts” in their diseases - sometimes, for very rare diseases, they turn out to be the sole experts. Their knowledge and experience are valuable assets that are, thanks to empowerment, a driving force to shape rare disease related issues. They can participate in, influence, control and hold accountable institutions that affect their lives. Research, health policy, daily care and so on: patient empowerment has proved to be a necessity in all these sectors.

Abbey MeyersTwenty five years ago, the United States enacted the Orphan Drug Act (ODA), one of the most important pieces of health legislation today and which would later inspire the European Drug Act. The ODA is the result of patient empowerment. Abbey Meyers' son suffered from a rare disease and was treated with an experimental drug until she learned that the drug has been discontinued. With other patient representatives, the former president and founder of NORD mobilised to educate Congress and testify about the orphan drug problem. Three years of hearings, fights, battles and never-ending mobilisation later, the ODA was signed. “ODA made the difference between life and death for many people,” declared Abbey Meyers in an interview with EURORDIS in June 2008.

Michael Griffith, former president of Fighting Blindness (FB), has had his share of hard work and success too. Suffering from Retinitis Pigmentosa (RP) like many members of his family, he created FB in 1983 and under his leadership, FB has grown from a relatively small Irish organisation to a leading charity promoting research in retinal blindness. With no medical background, he succeeded, with the help of the members of FB, to raise enough money for a preliminary study for one year at Trinity College, Dublin. He persuaded the genetics specialist, Professor Shomi Bhattacharya, to come to Ireland and start research there. Michael Griffith didn't keep things to Ireland or Europe. He convinced Trinity College to ask for a US grant (half a million pounds for five years granted in 1987) and in 1989, the research team discovered the first gene known to cause RP - the Rhodopsin gene. Without the patients coming together through FB, without each and every member's energy and enthusiasm and without the leadership of Michael Griffith, would this huge breakthrough, that has made a difference internationally, have been made?

Sometimes, everything has to be done from scratch. 'My husband and I had never heard of Sanfilippo syndrome before the doctors told us in July 2005 that our dear and beautiful daughter Ornella was suffering from the disease,' recalled Karen Aiach, co-founder of Alliance Sanfilippo, in an interview with EURORDIS in December 2006. Karen and her husband went on to create a website entirely dedicated to this very rare disease and they too believe in reaching beyond barriers and frontiers. “Having a patient organisation at European or even global level really empowers patients. The more parents get together, the stronger we are to cope with the disease. But we don't want to be just a parents and families forum. I think it is essential to encourage and even initiate research, raise money and help implement clinical trials.” Thanks to the Alliance's work, a critical and in-depth overview of what exists and what needs to be done in the field of research, information and therapeutic trials now exists. There has also been an evaluation of the researchers' needs, including a global and updated survey of the disease.

There's no “big” money or “small” money with rare disease patients and their organisations. A draw, a fund-raising event, a grant, a “Walk around the world” - each cent raised is a symbol of patients' taking ownership of the issues that are close to their hearts.

Patient empowerment is also impressive in daily care. Ten years ago Alström Syndrome UK set up a Structured Multidisciplinary Clinics Programme for Alström syndrome patients where they have access to holistic medical attention and social services. EURORDIS Summer School 2008 | Université d'été d'Eurordis | escuela de verano de EURORDIS | Campo estivo di EURORDIS | Escola de Verão da EURORDIS | EURORDIS- SommerschulePrader-Willi patients in Denmark have the Grankoglen Residence, an activity centre for young adults suffering from Prader-Willi Syndrome. Set up for Thalidomide victims in 1993, at Björn Håkansson's initiative, the Swedish Ex-Center is now a renowned centre of expertise that welcomes dysmelia patients from all over Europe.

These success stories are still too rare and though nobody disputes the necessity and efficiency of patient empowerment, there is a huge need for tools and good practice. The European Conference on Rare diseases (ECRD) in Lisbon last year was a turning point in the process to include the patients' voice in future European action in the field of rare diseases. Last June, EURORDIS' Summer School also provided tools for more patient empowerment, notably in the regulatory processes of drug development and clinical trials in Europe. As Michael Griffith says, “to succeed, you have to be dying with enthusiasm and be so absolutely and entirely determined that no matter what happens, you'll start again and again.”

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This article was previously published in the December 2008 issue of our newsletter.

Author: Nathacha Appanah
Photo credits: EURORDIS Summer School 2008 © EURORDIS; Abbey Meyers © NORD; Bjorn & Hannah © Paul Hansen/DN