Written by Rachel Donnison | Editorial Assistant, EMG-Health
Q: What motivated you to dedicate your career to raising awareness of rare diseases?
A: My eldest daughter is living with cystic fibrosis. I have experienced first-hand what it means to get a diagnosis, and to organise day-to-day medical care and self-care, as well as the reality of what it means to build a holistic approach to that care so that she can live to her full potential. We had to get to grips with new information and develop our knowledge about the disease, to face uncertainties and the unknown. We joined a patient group. We fought for a treatment. We have experienced first-hand many of the hurdles the 30 million people living with a rare disease in Europe face every single day.
During my 30 years working in health and medical research NGOs (non-governmental organisations) in France, Europe, and the USA in the fields of cancer, HIV, and rare diseases, I have met thousands of patients and patient advocates from many different countries. I have learned directly from them about the daily reality of living with a chronic disease and a rare disease. They inspire me to tackle the many challenges our community faces, to make the world a better place for people living with a rare disease.
Q: You were one of the first patient representatives appointed to the Committee for Orphan Medicinal Products (COMP) at the European Medicines Agency (EMA); what did this role entail, and did you face any particular challenges?
A: I was one of three patient representatives appointed to the COMP in 2000. It was the first time that a medicines regulatory authority appointed patient representatives to one of its scientific committees.
We were only at the beginning of our efforts to gain recognition of rare diseases as a public health priority at the EU level. We had created EURORDIS only a few years before, in 1997. Our first big win was the EU Regulation on Orphan Medicinal Products, adopted in 1999. Following this success, I presented myself as a candidate for Vice-Chair of the COMP and was elected, a strong signal of support for the patient voice. Three years later, in 2003, I was re-elected unanimously for a second mandate as Vice-Chair.
It was a constant battle to raise awareness of the realities of living with a rare disease, and of the value parents or patient representatives bring to the table. We had to persuade scientific and policy experts that patient advocates are experts, in terms of knowledge of the disease and their daily life experience, and that this expertise goes towards creating meaningful scientific opinions and wise policy decisions. We had to move from being tolerated and watched, to being welcomed and encouraged. Nothing was handed to us on a silver platter, although I must add that the EMA has always been very supportive.
Great progress has been made and, as a result of years of effort by EURORDIS, patient advocates now sit on many of the EMA’s committees and are involved in several other important activities of the Agency, such as scientific advice and protocol assistance.
Q: Over the last 25 years you have been a patient advocate at organisations such as the EU Committee of Experts on Rare Diseases and the Therapies Scientific Committee of the International Rare Diseases Research Consortium, and in the year 2000 you became the Chief Executive Officer of EURORDIS. Could you tell us more about the mission of EURORDIS?
A: EURORDIS-Rare Diseases Europe is a unique, non-profit alliance of 905 rare disease patient organisations from 72 countries that work together to improve the lives of the 30 million people living with a rare disease in Europe.
By connecting patients, families, and patient groups, as well as by bringing together all stakeholders and mobilising the rare disease community, EURORDIS strengthens the patient voice and shapes research, policies, and patient services.
Through the EU Committee of Experts on Rare Diseases, patient advocates contributed to the deployment of national plans for rare diseases in every EU Member State, including vital recommendations that have improved the lives of people living with a rare disease. For example, the EU Committee of Experts on Rare Diseases laid the foundations for the creation of the 24 European Reference Networks for Rare Diseases, which connect nearly 1,000 highly specialised healthcare units from over 300 hospitals in 26 EU countries.
Through the International Rare Diseases Research Consortium (IRDiRC), we have helped foster meaningful investment of public and private actors of research funding, as well as policy coordination and even alignment of standards in the rare disease field. As a member of the IRDiRC Therapies Scientific Committee, we support their vision to enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention.
Q: You have recently called for a move from regional collaboration to pan-European negotiation on pricing of medicines for low prevalence and complex diseases. You have personally worked in many countries and with many organisations: do you think that this collaborative approach is feasible?
A: Yes, absolutely. Not only is it feasible, it is essential. But it needs a real commitment from everyone involved: companies, EU Member States, the European Commission, and the European Parliament. Orphan medicines are authorised at the EU level, but pricing negotiations and conditions of market access are made at the national level. This is creating a fragmented system and we constantly see cases where patients can’t access a medicine they so desperately need, even though it is available in another EU Member State. An EU-level table of negotiation that allows Member States to jointly agree on the value of innovative medicines, negotiate prices of orphan medicines, and agree on research activities to generate additional real-world evidence, in exchange for immediate access to all relevant patients in Europe, would put an end to this system and improve access to medicine for patients with rare diseases.
Q: EURORDIS has recently brought to attention the discrimination seen in critical care guidelines during the COVID-19 pandemic. What reports of discrimination have you received?
A: We received reports from our members that development of clinical guidelines to be used for intensive care unit (ICU) triage during the COVID-19 pandemic were being rushed, guiding doctors to make judgements based on the ‘social value of a person’ or their disability. This has a direct impact on people living with a rare disease, who are even more vulnerable during this epidemic. They should be one of the top priority vulnerable populations for national and European authorities.
As a result of confinement, people living with a rare disease are suffering. Some people risk staying home and missing routine treatments because of the fear of getting infected with the virus. Cancellation of vital surgeries or life-saving organ transplants can also have life-threatening consequences for people living with a rare disease. In addition, in some cases they may believe they have the virus but are afraid to go to hospital for treatment in case they are discriminated against or appropriate measures are not taken to protect them. We call for an immediate revision of all triage guidelines that could lead to the discrimination or deprioritisation of people living with a rare disease during treatment for COVID-19.
The tide does seem to be turning. We are starting to hear from some national authorities that people living with chronic conditions, or with weakened immune systems, are now being considered as a priority in the last weeks of confinement and post-confinement. However, we must hold strong: we cannot let up. We must advocate for the needs of people living with a rare disease, otherwise they will be left behind. This is why we published an open letter to policy makers on how to protect people living with a rare disease during the pandemic.
Q: In response to these reports, a recent press release from EURORDIS recommended proposals to help healthcare providers provide optimal care during the crisis; could you give us a summary of these measures?
A: We propose special measures to medical bodies, national health authorities, and healthcare providers on the ground fighting against COVID-19 to provide optimal care. We suggest they facilitate and adopt concrete measures and protocols in the provision of emergency healthcare during the COVID-19 crisis, warranted by the complex needs of patients with rare diseases. For example:
- When a patient with a rare disease presents with COVID-19 symptoms, the on-duty ICU doctor should contact the patient’s permanent medical practitioner or an expert centre to understand the specific disease history and treatment plan of the patient.
- For people living with a rare disease, family members play a crucial role in the treatment and care of their loved one. Carers are experts on the disease and the specific needs of the individual patient. Health authorities should articulate protocols to enable them to support doctors and nurses in the ICU in their relative’s treatment plan and care.
- Temporary specialised hospital wards, dedicated to particularly vulnerable patients with rare diseases affected by COVID-19, should be considered whenever possible; e.g., for patients affected by neuromuscular, pulmonary, or immunodeficiency diseases.
- Utilise the Clinical Patient Management System (CPMS) to expedite exchanges between experts in rare disease European Reference Networks (ERN) for those patients affected by COVID19, in line with the European Commission’s announcement that the model behind the ERN CPMS has inspired a new COVID-19 Clinical Management Support System.
- People living with a rare disease should be included as a priority population in preventative measures to stop the spread of COVID-19. During the containment period, carers of patients with rare diseases most vulnerable to COVID-19 should be systematically tested, or tested on request, with molecular and serological tests. They should receive masks and other personal protective equipment as a priority, when quantities allow for this beyond priority health and social care professionals.
Q: How have these proposals been received by medical bodies, national health authorities, and healthcare providers?
A: Since the beginning of this pandemic, national health authorities, hospitals, and health professionals have been forced to make critical decisions with a high level of uncertainty on a daily basis. In most countries, social services are also working around the clock to provide a safety net for the most vulnerable. We are confident that our voice has been heard by the medical community and the health and social care authorities, and we remain open to collaboration with all of them to explore how to best implement our proposals.
Q: What advice has EURORDIS given to patients with rare diseases to protect themselves against COVID-19?
A: In the face of isolation and uncertainty, now is the time to pick up the phone, to make a video call, and stay in touch with each other. We have let our members know that we are here for them. Mutual support is key, and we hope that people living with a rare disease are staying in touch to avoid feeling isolated during this stressful time.
We advise people living with a rare disease to follow official medical advice and avoid fake news. If possible, speak with your permanent medical practitioner via video call or phone. Information regarding treatments for COVID-19 is developing fast. We suggest to refer to the European Medicines Agency’s updates on medicines and to see your local national medicines agency’s website.
We have been collecting resources from our network and community, and have been consulting our member organisations, to track how COVID-19 is affecting the people they represent, through webinars and our new, ongoing COVID-19 survey.