An Agreement with the WHO

Memorandum of Understanding with the WHO

Rare Diseases International has signed a Memorandum of Understanding with the World Health Organization (WHO). This collaboration aims to shape international rare disease policy and strengthen the capacity of health systems to address rare diseases.

In the first two years, activities will focus on harmonising the way rare diseases are defined internationally as well as laying the groundwork for a global network of centres of excellence for rare diseases.

Operational Description of Rare Diseases

RDI is facilitating efforts to develop an operational description of rare diseases based on key prevalence and incidence figures. This should improve the recognition of rare diseases and increase their visibility in health systems. An operational description would also help inform the WHO and Member States when considering national, regional and international policy.

WHO Collaborative Global Network for Rare Diseases (CGN4RD)

The second set of activities in the MoU focuses on the establishment of the WHO Collaborative Global Network for Rare Diseases (CGN4RD). The Network will operate through a “networked care” approach that groups rare diseases by therapeutic areas. The project aims to identify, assess and support centres of expertise connected internationally in one global network

RDI is currently consulting all stakeholders and rare disease patient organisations to design a Needs Assessment Study for the CGN4RD. The assessment will outline the rare disease community’s needs in each of the six WHO regions as well as resources and existing networks on the ground in each region.

With the WHO and all relevant stakeholders, RDI works towards the following long term goals:

1. Increase awareness of rare diseases and their visibility in healthcare system.
2. Strengthen healthcare systems, including improving access to accurate diagnosis, prevention of comorbidity, and promotion of multidisciplinary holistic care.
3. Encourage Member States to adopt strategies to address rare diseases at national level within an international policy framework.
4. Improve access to affordable and quality treatments and care

The plan is timed around WHO’s 13th General Programme of Work 2019-2023 (GPW13) which seeks to increase the number of people benefiting from Universal Health Coverage by one billion.

The actions in the MoU are intended to strengthen healthcare systems by fostering collaboration and aggregating expertise. The agreement should boost initiatives to deliver patient-centred care by promoting a model of multi-disciplinary care that is centred on patients’ needs.

Watch and Learn

Yann Le Cam, EURORDIS CEO and RDI Council member, outlines the agreement with the WHO. Matt Bolz Johnson, CGN4RD Advisor, describes the journey towards a Global Network and Ana Rath, Orphanet Director, discusses the importance of an operational description of rare diseases.

hand holding medicine

RDI facilitates workshop on access to medicines

hand holding medicine

RDI co-organised with the International Federation of Pharmaceutical Manufacturers & Associations (IFPMA) a Round Table on access for rare disease therapies in lower and middle-income country settings. The meeting, which was held at the IUCC in Geneva on December 4th 2019, brought together 15 patient representatives from RDI’s network and 14 company representatives from the biopharmaceutical industry to explore barriers to access, discuss opportunities to overcome these challenges and identify what factors have helped to address them, while recognising that each healthcare system is unique.

Patient advocates and industry representatives looked at examples of where biopharmaceutical companies and patient groups have been involved in expanding patient access to rare disease treatments and care with past innovative and now well-established treatment protocols, as well as to potentially transformative investigational medicines destined for early and routine treatment of rare diseases in LMICs. Disease areas covered included haemophilia, SMA, thalassemia, rare cancers, Gaucher and other lysosomal storage disorders.

Patient advocates for those diseases spoke about existing programmes for their diseases at international level and more specifically about how they are carried out in their countries and the obstacles they encounter on the ground.

The type of programmes featured ranged from humanitarian aid, donations and charitable schemes to twinning and capacity building all the way to comprehensive development programmes at national level.

Based on these examples, participants of the round table engaged in constructive dialogue to analyse hurdles and potential cross-cutting measures to improve access to rare disease therapies in the developing world.

APARDO Summit a great success

51 attendees from 17 countries and 19 member organisations took part in the recent Asia Pacific Alliance of Rare Disease Organizations (APARDO) summit in Taipei, Taiwan.

The event, supported by Rare Diseases International, saw attendees actively engaged in discussions on various topics from amplifying patient voices to multi-stakeholder collaboration, to using the APEC Rare Disease Framework to develop national action plans.

Read the full event report here.

Sharing Global Advocacy Actions at FEDER Conference

Paloma Tejada, Director, Rare Diseases International (RDI), attended the recent ‘Rare Diseases: A global challenge, a holistic challenge’ conference in Burgos, Spain, where she shared with attendees the global advocacy actions being undertaken on behalf of the rare disease community with the World Health Organization and the United Nations.

As part of a round table entitled ‘Advocacy – social transformation and rare diseases’, Paloma outlined the significance of universal health coverage and the work being undertaken by Rare Diseases International and the NGO Committee for Rare Diseases to ensure the inclusion of people living with rare diseases into the UN Political Declaration on Universal Health Coverage.

The event, which took place at the State Reference Centre for Care for People with Rare Diseases and their Families (CREER) from 19 – 20 September, was organised by the Spanish Federation of Rare Diseases (FEDER) as part of their yearly capacity training programme. The meeting this year was special as it marked FEDER’s 20th Anniversary and CREER’s 10th Anniversary. The event had a strong international dimension, bringing together national and international patient and professional organisations, from over 12 countries, to highlight best practices in political advocacy, promotion of research and integrated support services.

Also in attendance was Queen Letizia of Spain, who learnt first-hand the importance of the work being done, by Rare Diseases International, to represent the 350 million people worldwide who are living with a rare disease.

Click here to see the full agenda and speakers

All photographs: © Casa de S.M. el Rey

New scientific paper confirms 300 million people living with a rare disease worldwide

A new scientific paper published in the European Journal of Human Genetics has confirmed that the number of people worldwide living with a rare disease is estimated at 300 million. This paper is co-authored by Orphanet (coordinated by INSERM, the French National Institute of Health and Medical Research), EURORDIS – Rare Diseases Europe and Orphanet Ireland.

This is the first time that a robust analysis of the global prevalence of rare diseases has been conducted using the publicly available epidemiological data in the Orphanet (www.orpha.net) database.

According to the research conducted, rare diseases currently affect at any point in time 3.5% – 5.9% of the worldwide population, equivalent to a conservative estimate of 300 million people worldwide (4% of an estimated world population of 7.5 billion), the number used until now by Rare Diseases International and EURORDIS. The analysis shows that there are over 6,000 clinically defined rare diseases, of which 72% are genetic, and of those 70% start in childhood.

Yann Le Cam, co-author of the paper, member of the Council of Rare Diseases International and Chief Executive Officer of EURORDIS commented,

“Collectively rare diseases are not rare. The findings published in this paper support years of efforts from the rare disease community to advocate for the prioritisation of rare diseases as a public health priority that affects millions of people around the world, not just the few. No one can deny the significance of the global rare disease population anymore, a critical mass of people who have been the health orphans so far, with acute needs for better healthcare, access to innovative treatments and a social system that supports their right to reach their highest potential of well-being”.

Yann Le Cam, member of the Council of Rare Diseases International

Read the press release for this paper

Access the full paper here

Join us at the APARDO Summit 2019

Join us at the APARDO Summit 2019: Regional Collaborations for Global Change

Date: 19 – 21 October

Location: Taipei, Taiwan

Rare Diseases International is pleased to be a co-organiser in this event alongside the Asia Pacific Alliance of Rare Disease Organisations. The event aims to help patient advocates representing national and regional patient-centric organizations effectively deliver, share best practices, develop skills and adopt coordinated strategies for improving rare disease patient outcomes.

Join leading research organizations, public health agencies and the biopharma industry for this exciting three-day forum!

Click here for more information and to register


Agenda


19 October
ASIA PACIFIC ADVOCACY SYMPOSIUM
All day session (8:30AM – 4:30PM)
  • Presentation on Regional and Global Rare Disease Policy Initiatives
  • Panel on Providing Better Access to Diagnosis and Treatment
  • Workshop on Policy Advocacy to Improve Conditions for Patiets

This session is organized jointly by APARDO, Taiwan Foundation for Rare Disorders and Rare Diseases International, followed by an internal meeting of APARDO members.


20 OCT
RARE DISEASE AND HUMAN GENETICS SYMPOSIA
All day session (9:00AM – 6:30PM)
  • Newborn Screening for Genetic Disorders
  • Multidisciplinary Care for Rare Disease Patients
  • Experience of Rare Disease Programs in Asia
  • Overview of the APEC Rare Disease Action Plan

This session is organized jointly by Taiwan Foundation for Rare Disorders and Taiwan Human Genetics Society.

Register Here


21 OCT
APARDO TRAINING ON APEC RARE DISEASE FRAMEWORK – morning session (8:30AM – 12:00PM)
TAIWAN GLOBAL HEALTH FORUM – afternoon session (1:30PM – 5:50PM)
Venue:  Taipei International Convention Center
The event is free, but a separate registration is required.
  • Genomic Perspective – Rare Disease Prevention and Care
  • Orphan Drugs and Medical Insurance

This session is hosted by the Ministry of Health and Welfare and Ministry of Foreign Affairs Taiwan.

Register Here

UN Member States include rare diseases in political declaration on universal health coverage

23 September 2019, New York – Today at a high-level meeting at the United Nations (UN) headquarters, UN Member States adopted a political declaration on universal health coverage (UHC) that includes mention of rare diseases. This marks a hugely significant milestone for the rare disease community, with rare diseases being included for the first time within a UN declaration adopted by all 193 Member States.

In attendance at today’s meeting and representing the rare disease community were Yann Le Cam, Chief Executive Officer of EURORDIS-Rare Diseases Europe, member of the Council of Rare Diseases International (RDI) and member of the Executive Committee of the NGO Committee for Rare Diseases, and Durhane Wong-Rieger, Chair of the Council of RDI, President of the Canadian Organization for Rare Disorders and Member of the Board of the NGO Committee for Rare Diseases.

Contributing to the proceedings, EURORDIS-Rare Diseases Europe, RDI and the NGO Committee for Rare Diseases submitted a joint written statement outlining the case for including the 300 million people worldwide living with a rare disease within universal health coverage to ensure that this population is not left behind.

Also in attendance at today’s meeting were a number of key figures in international health policy, including Dr Tedros, Director-General of the World Health Organization (WHO), Ms Michelle Bachelet, UN High Commissioner for Human Rights and Mr Keizo Takemi, WHO UHC Goodwill Ambassador.


Double milestone for the rare disease community

Durhane Wong-Rieger said, “The inclusion of people living with a rare disease within the declaration is the result of years of coordinated advocacy work from a number of organisations and led by Rare Diseases International, EURORDIS and the NGO Committee for Rare Diseases. The rare disease community remains committed to driving support for universal health coverage, to collaborating with relevant actors, to holding governments to account and to ensuring that traditionally left-behind communities like ours are actively engaged to plan, budget and implement the policies that will ensure services are more acceptable, appropriate and sustainable”.

Yann Le Cam commented, “This is the most important health-related text in the 15 years of the 2030 Agenda for Sustainable Development. It reinforces and creates a dynamic in almost all countries in the world to increase the percentage of the population (including people with rare diseases) benefitting from health coverage, enlarges the list of care services covered, and increases the percentage of healthcare expenses covered by public resources. The declaration gives us the most robust grounds to date to move towards a UN resolution on rare diseases”.

Anders Olauson, Chair of the NGO Committee and Chairman of the Ågrenska National Centre for Rare Diseases (Sweden), said, “This declaration represents a double milestone for the rare disease community. At a political level, the inclusion of rare diseases alongside communicable and non-communicable diseases, impairments and disabilities, means people living with rare diseases are no longer invisible t0 the international health policy agenda. At a practical level, the text also provides leverage for local stakeholders to call for national action to provide health services for people affected by a rare disease”.  


Advocacy steps to now

EURORDIS, RDI and the NGO Committee for Rare Diseases have worked together over the last three years to advocate for people living with rare diseases to be included within universal health coverage.  Recent advocacy actions include:

  • Numerous meetings with Permanent Missions of Member States to the UN and UN officials in Geneva and New York.
  • Meetings with the Office of the UN Special Rapporteur on the rights of persons with disabilities, the UN Special Rapporteur on the Right to Health, and Dr Tedros, Director-General of the WHO to discuss the inclusion of rare diseases within UHC and SDG 3 on health.
  • Submission of an official written statementThe Human Rights of People living with a Rare Disease – presented at the Human Rights Council 38th Session in June 2018.
  • On 21 February of this year, a Rare Disease Day Policy Event was held at the UN’s New York Headquarters, at which EURORDIS, RDI and the NGO Committee for Rare Diseases called for the integration of rare diseases into the UN political declaration on UHC.
  • May 2019 saw rare diseases being featured for the first time on the agenda of the World Health Assembly through events hosted and contributed towards by RDI. Developed in consultation with its members, the RDI position paper, Rare Diseases: Leaving no one behind in Universal Health Coverage, has been shared and referenced at a number of meetings and has been key to positioning rare diseases as an international health priority.
  • July 2019 saw rare diseases well detailed in a UN High Commissioner for Human Rights report as one of the essential vulnerable populations on the implementation for UHC.

About Rare Diseases International

Rare Diseases International (RDI) is the global alliance of people living with a rare disease of all nationalities across all rare diseases. RDI’s mission is to be a strong common voice on behalf of rare disease patients around the world, to advocate for rare diseases as an international public health priority and to represent its members and enhance their capacities. RDI has more than 60 member organisations from over 30 countries, that in turn represent rare disease patient groups in more than 100 countries worldwide.


About EURORDIS-Rare Diseases Europe

EURORDIS-Rare Diseases Europe is a unique, non-profit alliance of over 800 rare disease patient organisations from over 70 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.


About the NGO Committee for Rare Diseases

The NGO Committee for Rare Diseases, created in 2015 by Ågrenska and EURORDIS-Rare Diseases Europe, is a Substantive Committee of the Conference of NGOs in Consultative Relationship with the United Nations (CoNGO). The NGO Committee is a multi-stakeholder, inclusive, global ecosystem, which works towards making rare diseases a global health priority on the UN’s agenda and within public health, research, medical and social care policies and structures around the world.

United Nations human rights body stresses the need to address rare diseases within Universal Health Coverage

The United Nations Office of the High Commissioner for Human Rights (OHCHR) has made reference to persons living with a rare disease within its recently published annual report to the UN Economic and Social Council (ECOSOC). The 2019 report focuses on the topic of Universal Health Coverage (UHC), and looks at how the human rights framework can contribute to the conceptualization and implementation of UHC. 

The inclusion of persons living with a rare disease both within the report and the recommendations is a big step forward for the rare disease community and is the result of years of coordinated advocacy work from a number of organisations, including Rare Diseases International. Alongside EURORDIS-Rare Diseases Europe and the NGO Committee for Rare Diseases, RDI has been working to establish links with the OHCHR since 2017 through hosting a number of events, face to face meetings and contributing to the OHCHR consultation on health and the Sustainable Development Goals from the Human Rights Approach. At the recent RDI side event to the 72nd World Health Assembly, we were pleased to welcome Mr Todd Howland, Chief of the Development, Economic and Social Issues Branch of the OHCHR, who gave a keynote speech in which he confirmed the position of rare diseases within the human rights agenda.

Another key part of our advocacy work in the first half of this year has been the creation of our position paper: Rare Diseases: Leaving no one behind in Universal Health Coverage. The paper, which was developed in consultation with Rare Diseases International members, lays out the key arguments for including persons living with a rare disease within the concept of universal health coverage. This paper has been shared at a number of meetings with the OHCHR Secretariat and we are proud to see that it is one of the key references in the section of the report dedicated to persons living with a rare disease.

Thank you to all Rare Diseases International members who have contributed towards our advocacy work with the OHCHR. One of the principle objectives of RDI is to promote rare diseases as an international public health and research priority, in particular within a human rights framework, and we are pleased to see our efforts starting to bear fruit. Our next advocacy milestone is the UN Political Declaration on Universal Health Coverage, to be adopted by member states at the High Level Meeting on UHC in New York on 23 September. 

RDI WHO 72 WHA Side Event – Universal Health Coverage: Including Rare Diseases to leave no one behind

You are invited to attend the Rare Diseases International side event to the World Health Organization 72nd World Health Assembly.


Event: RDI WHO 72 WHA Side Event – Universal Health Coverage: Including Rare Diseases to leave no one behind
Date: Thursday 23 May 2019
NEW Time: 18:00 – 20:00
Location: International Red Cross and Red Crescent Museum, Avenue de la Paix, 1202 Geneva, Switzerland (opposite the Palais des Nations, location of the WHA)

This informal side event will serve to promote awareness and knowledge on the topic of rare diseases and to unite the international community, the patient community and all relevant stakeholders to address the unmet needs of this largely ignored and vulnerable population within Universal Health Coverage.


The event will start with a drinks reception followed by keynote addresses and a panel discussion. Delegates attending the WHA will have the opportunity to meet with patient advocates and other stakeholders from the rare disease community.

View the programme here


This is a free, open event, so please spread the word and extend this invitation to your friends and colleagues. Please note that RDI cannot offer financial aid to participants to attend this event.



RSVP: REGISTER HERE 



We look forward to seeing you on 23 May.

Event by RDI in collaboration with the NGO Committee for Rare Diseases


RDI and EURORDIS meet with Dr Tedros, Director-General of the WHO, to discuss future collaboration

On Monday 18 March 2019, Durhane Wong-Rieger, Chair of the Council of Rare Diseases International and Yann Le Cam, Chief Executive Officer of EURORDIS-Rare Diseases Europe, met with Dr Tedros, Director-General of the World Health Organization (WHO), in Geneva to discuss a shared vision for the more than 300 million people living with a rare disease across the world.

Together, Rare Diseases International (RDI) and EURORDIS have been advocating over the last two years to make rare diseases a global health priority at the WHO. EURORDIS and RDI identified areas of collaboration with the WHO to shape a partnership, which will be formalised in a Memorandum of Understanding. This collaboration will set out ambitious goals that contribute to the WHO’s 13th General Programme of Work (GPW).

Transformative progress

In 2018 Dr Tedros released a statement of support in which he called for universal health coverage to include diagnosis and treatment for rare diseases, so as to provide for a world in which no one is left behind, including people living with a rare disease. At this point, he welcomed future opportunities for further discussion with the rare disease community on how to strengthen cooperation to ensure people living with a rare disease can access the health services they need.

Mr Le Cam, who is also a member of the RDI Council and Chair of the RDI Advocacy Committee, commented, “We thank Dr Tedros and his WHO leadership team for their support for the rare disease community. One year on from his statement, we are pleased to meet with him to discuss next steps that the WHO and rare disease community can take to move towards our proposed collaborative framework within the context of the 2030 Sustainable Development Agenda and the WHO GPW 2019-2023. His continued commitment sends a strong message of support to patients around the world. We are also asking the WHO to support our call for the integration of rare diseases into universal health coverage (UHC).”

This meeting follows the recent Rare Disease Day Policy Event at the United Nations’ New York Headquarters, at which Rare Diseases International, EURORDIS and the NGO Committee for Rare Diseases called for the integration of rare diseases into the upcoming landmark UN political declaration on UHC. Read more about this meeting here.