RDI launches mapping rare for rare disease day 2024

On the occasion of Rare Disease Day 2024, RDI launched Mapping Rare, a website highlighting the many achievements of RDI’s global community. The first group achievements includes a humanitarian mission to the Ukraine by DEBRA International, an awareness campaign in Malaysia, the creation of a national rare disease network in Canada, a successful campaign to improve education options for children with rare diseases in Tanzania, and much more! Visit the Mapping Rare page to learn more.

The launch of Mapping Rare was celebrated with a webinar featuring all of the participating organizations and three keynote speakers: Dr. Roberto Giugliani, Dr. Rüdiger Krech and Dr. Shinya Iimura. The webinar was viewed by over 250 attendees on Zoom and Facebook Live. If you missed it, you can watch it here:

Do you have an achievement to submit to the map? We will be putting out a new call for submissions soon via our RDI members’ mailing list.

Alexandra Heumber Perry at APARDO

RDI Participates in the 2023 APARDO Conference alongside Rare Disease Groups From Across Asia

RDI CEO Alexandra Heumber Perry participated in the 2023 Asia Pacific Alliance of Rare Disease Organisations (APARDO) Conference from 24-26 November. The event, co-organized by the Malaysian Rare Disorders Society, brought together 150 stakeholders from 15 countries across the Asia-Pacific region, including Malaysia, Indonesia, India, Korea, Nepal, China, Hong Kong, the Philippines and Australia.

The conference was a testament to the power of grassroots advocacy, peer-to-peer learning and a multi-stakeholder approach: APARDO members, partners and experts shared inspiring experiences, success stories, and promising ongoing initiatives.

The Malaysian Ministry of Health, leading by example, pledged to leave no one behind by including PLWRD in its health priorities, including setting up a specific fund for rare diseases and calling for a global framework for rare diseases.

Conference speakers underlined the value of treatment and the importance of investing in newborn screening, diagnosis and care for rare diseases, as well as the value of economic social burden data.

PLWRD shared their challenges and solutions, showing that each rare disease has its specificities, but that patients and carers are the drivers in meaningful patient care pathways. Further, real-world data, from the patients and by the patients, is critical for increasing patient-centered, affordable and accessible therapies.

The conference emphasized the need for a global framework for action to take advantage of the fertile ground of the moment for translating commitment into impact at the regional, national and local levels and the critical role that APARDO members and other regional alliances play within the rare disease ecosystem.

photo of RDI members with RDI banner

RDI Members from Across the Globe Gather in Barcelona for Annual Membership Meeting

At the first in-person membership event since the Covid-19 pandemic, RDI members from across the globe gathered in Barcelona on 30 October 2023 to discuss their vision for the future of the rare disease community.

The meeting kicked off with an ice breaker in which members were asked to create a quick sketch of their vision of something they would like to see in the next four to five years. They then presented these sketches to a larger group, organized by region — Asia-Pacific, Africa, the Americas, and Europe — with a fifth group representing global alliances.

While PLWRD face different challenges in these different regions, there were many common themes that emerged: equity, inclusion, access, representation, and universal health coverage. These key points will help to shape and guide the vision and mission of RDI over the coming years.

After a brief coffee/networking break, the members were joined by several partners from RDI’s Alliance of Companies for a panel of patient advocates from around the world, moderated by RDI Council Chair Durhane Wong-Rieger, President and CEO of the Canadian Organization for Rare Disorders (CORD).

The diverse panel included Antoine Gliksohn of the Global Albinism Alliance, Mirjam Mann of ACHSE (Germany), Eda Selabatso of BORDIS (Botswana), Monica Ferrie of GSNV (Australia), Regina Prospero of Instituto Vidas Raras (Brazil) and Jiaying Zheng of the China Alliance for Rare Diseases (CHARD). The panel was followed by a Q & A and group discussion.

The event was a fruitful and constructive way to open RDI’s participation in the World Orphan Drug Congress, with members going on to represent the rare disease patient community in formal panels, presentations and roundtables, as well as informal discussion with representatives from pharmaceutical companies, NGOs and policy-making bodies.

Six panelists on stage

RDI Members Elevate the Voices of PLWRD at the World Orphan Drug Congress in Barcelona, Spain

Forty RDI members from 6 continents attended the World Orphan Drug Congress in Barcelona from 31 October to 2 November, 2023, participating in presentations, panels and roundtables, actively representing their communities and speaking in a common, united voice on behalf of Persons Living with a Rare Disease.

Some key messages from our members:

🔑 The importance of patient empowerment through the full development cycle of treatment 
🔑 The importance of patient care pathways to enable access to diagnostics, treatment and care
🔑 The importance for countries to prioritize rare diseases and have a policy framework in place to increase equity and access to diagnosis, treatment and care
🔑 The importance of recognizing that the patient journey goes beyond access to treatment and requires a holistic approach, including social support
🔑 The need to acknowledge the mental health impact resulting from living with a rare disease, including social isolation and stigma

Thank you to our members and partners for elevating the voices of PLWRD on this international stage. We can’t wait to see the next achievements of the global Rare Disease community.

RDI Founder Yann Le Cam delivers a formal statement at the UN High-Level Meeting on Universal Health Coverage

21 September 2023, New York City – RDI Founder, Treasurer and Policy Committee Chair Yann Le Cam delivered a formal statement during the UN High-Level Meeting on Universal Health Coverage on the overall theme of “Universal health coverage: expanding our ambition for health and well-being in a post-COVID world.”

The statement, part of a multi-stakeholder panel entitled “Aligning our investments for health and well-being in a post-COVID world” was delivered on behalf of the NGO Committee for Rare Diseases (CONGO), EURORDIS-Rare Diseases Europe, Agrenska, Rare Diseases International (RDI) and the Federación Española de Enfermedades Raras (FEDER). The full statement can be read below or downloaded here.

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STATEMENT

The global rare disease community, represented by EURORDIS-Rare Diseases Europe, in the name of Rare Diseases International, welcomes the opportunity to make a joint statement at this High-Level Meeting. We strongly support the 2023 UN Political Declaration on UHC, in which rare diseases are included. We urge UN Member States to adopt this document, and further efforts to implement UHC for Persons Living with a Rare Disease, building on the political momentum generated by the UN Political Declaration from 2019, and the UN Resolution on “Addressing the challenges of persons living with a rare disease and their families”, adopted by consensus at the UN General Assembly on 16 December 2021.

Each rare disease affects a small number of patients in each country but, when considered all together, the 6000+ rare diseases are affecting a minimum of 4% of the population in each country, and 300 million people worldwide.

Rare diseases are genetic disorders, rare bacterial or viral infections, rare poisonings and rare cancers. In 70% of cases, rare genetic disorders appear during childhood. Rare diseases are chronic, complex, progressive, disabling, and life-threatening. Many people affected live in the margins of society, often undiagnosed, unrecognized, and unable to access services available to common conditions. These factors impact family finances and mental health, and are detrimental to their active participation in society. As such, people living with a rare disease constitute a vulnerable and neglected population, mostly invisible to the system regardless of their own socio-economic circumstances, and of the level of development of the country.

Even with existing resources, strategies securing the three aspects of UHC can translate into more services, covering more Persons Living with a Rare Disease, and with the reduction of sometimes catastrophic out-of-pocket expenditures for Persons Living with a Rare Disease and their families, are a reality. To leverage the political commitment vis-à-vis including Persons Living with a Rare Disease in UHC, we need aglobal framework for action for rare diseases, which capitalizes on this political will, producing funding and resources to improve lives of Persons Living with a Rare Disease. This can best happen with a World Health Assembly Resolution addressing the matter.

The efforts to accelerate and implement UHC, globally, and with a human rights-centered approach, will not achieve the goal of the 2030 Agenda, namely of leaving “No One Behind”, until all Persons Living with a Rare Disease are robustly included in Member States’ UHC packages.

RDI CEO Alexandra Heumber-Perry speaking at the UN

RDI calls on UN member states to make Universal Health Coverage a reality for PLWRD

21 September 2023, New York – Today, at a high-level meeting at the United Nations Headquarters, UN Member States gathered to accelerate progress towards achieving Universal Health Coverage (UHC) by 2030.  In conjunction with this momentous occasion, Rare Diseases International (RDI), EURORDIS – Rare Diseases Europe, Ågrenska and Federación Española de Enfermedades Raras (FEDER) held a formal side-event to emphasize the vital importance of including the rare disease community in UHC. The event, entitled “A Blueprint for Leaving No One Behind,” was co-organized by the Permanent Missions of Spain and Sweden to the UN and the Ministry of Public Health of the State of Qatar to underline the message that UHC cannot be truly universal unless it meets the needs of the 300 million people worldwide living with a rare disease.

The event was formally opened by Her Majesty the Queen Letizia of Spain and Her Majesty the Queen Silvia of Sweden, followed by addresses from the Ministers of Health of Spain, Sweden, Qatar, France, Malaysia, as well as representatives from the Ministries of Health of Canada and Brazil, the Ministry of Foreign Affairs of the United Arab Emirates, and the European Commission, emphasizing the need for global action on supporting PLWRD through sharing expertise, investing in scientific research, and relieving the economic burden of rare diseases.

The World Health Organization, the World Bank, the Office of the UN High Commissioner for Human Rights (OHCHR), the NGO Committee for Rare Diseases, Ågrenska, and the Conference of NGOs in Consultative Relationship with the United Nations (CoNGO) highlighted the need for supporting the rare disease community as part of their objectives of supporting global human rights and sustainability.

The high-level, global participation in this event reflects the political momentum for rare diseases that has been growing since the 2019 Political Declaration on UHC, which marked the first time that rare diseases were included in a UN declaration adopted by all 193 Member States. This was followed by the first-ever UN resolution on rare diseases in 2021. Today’s meetings provide further evidence that the UN Member States are collectively committed to supporting the rare disease community with the objective of meeting their complex needs.

“Patients and families living with rare diseases across the globe are heartened by the continued commitment expressed by the global organizations as well as the national governments.”

Durhane Wong-Rieger, Chair of CDI and President of the Canadian Organization for Rare Disorders

However, this commitment alone is not sufficient. This global commitment must now be translated into immediate action at the regional and national levels. For the more than 300 million Persons Living with a Rare Disease (PLWRD) worldwide, the time to act on the Political Declaration on Universal Health Coverage is now.

The medical, social and financial challenges faced by PLWRD were underlined during a panel of patient advocates from four different continents, moderated by Wong-Rieger. During the panel, patient advocates spoke of issues such as delays in diagnosis, limited access to services, and the high cost of treatments. The patient advocates emphasized that the financial burden of rare diseases is not limited to medical expenses: PLWRD and their families bear significant costs associated with their complex needs, including transportation and rehabilitation. Coupled with the lost income of family members serving as caregivers, who are disproportionately women, this creates a long-term financial burden, leading to the impoverishment of the rare disease population. For society, the cost of not diagnosing and not treating rare diseases exceeds the cost of timely appropriate services.

To address these challenges effectively, governments must respect the fundamental human right to health of PLWRD and recognize that their needs are linked specifically to the rarity of their condition. While each rare disease only affects a small number of people, together there are over 6000 rare diseases affecting 4% of the population of every country in the world. Without addressing the challenges of this vulnerable population, Universal Health Coverage cannot succeed.

Wong-Rieger added, “As importantly, the assembly heard from the representatives of patient organizations working at local and national levels, how they have been able to leverage the UN UHC Declaration and the UN Rare Disease Resolution to effect meaningful advances in diagnosis, care and treatment, in collaboration with healthcare providers and other partners.”

That is why RDI and its partners are calling on member states to mobilize efforts to provide a global framework for action, through the adoption of a World Health Assembly Resolution on Rare Diseases. Now is the time to capitalize on the political will of this moment to improve the lives of People Living with a Rare Disease through adequate funding and resources to ensure that Universal Health Coverage truly leaves no one behind.

Read the full RDI statement.

You can read the UN’s Political Declaration on UHC here. (Rare diseases are mentioned in paragraph 55.)

Find out more about UHC for PLWRD. Our UHC Factsheet is available in English, Spanish, French, Arabic and Chinese.

A Blueprint for Leaving No One Behind

Watch the full video of our formal side-event to the UN High-Level Meeting on UHC on UN Web TV

100 people attended RDI’s hybrid event “A Blueprint for Leaving No One Behind” in person, with an additional 550 live viewers tuning in from across the globe, and 900 more in the following days. You can still watch the video on UN Web TV. The event featured welcome addresses from Her Majesty the Queen Letizia of Spain and Her Majesty the Queen Silvia of Sweden, 5 Ministers of Health, representatives of the WHO and the World Bank, and patient advocates from around the world. Watch the video and learn about how we can ensure that Persons Living with a Rare Disease are not left behind in Universal Health Coverage.

RDI CEO, Chair and Founder sitting behind desks at the UN

RDI @ the United Nations Headquarters: A Blueprint for leaving No One Behind in Universal Health Coverage

On Thursday, 21 September, 2023, RDI held a hybrid event “Engaging the UN System and Member States to Achieve UHC for PLWRD: A Blueprint for Leaving No One Behind” in partnership with the Permanent Mission of Spain to the United Nations, and the Permanent Mission of Sweden to the United Nations, the NGO Committee for Rare Diseases, EURORDIS-Rare Diseases Europe, Federación Española de Enfermedades Raras (FEDER), and Agrenska Foundation.

Engaging the UN System and Member States to Achieve UHC for PLWRD: A Blueprint for Leaving No One Behind” was formally opened by welcome messages by Her Majesty the Queen Letizia of Spain, Her Majesty the Queen Silvia of Sweden and a video keynote address by Dr. José Manuel Muñones Conde, Minister of Health of Spain. This was followed by keynote address by Acko Ankarberg Johansson, Minister for Health Care, Sweden, Dr Hanan Mohammed Al-Kuwari, Minister of Public Health, State of Qatar and Dr Jérôme Salomon, Assistant Director-General, Universal Health Coverage, Communicable and Noncommunicable Diseases, of the World Health Organization.

One hundred people attended the event in-person, with an additional 600 registered attendees streaming the event on UN Web TV.

RDI Members Christine Mutena of Rare Disorders Kenya and Rachel Yang of China Alliance for Rare Diseases participated in a Patient Advocate Panel with RDI members from four continents.

This event was the continuation of years-long advocacy by RDI and its partners. Since the Political Declaration on UHC in 2019, in which rare diseases are specifically mentioned, and the milestone UN Resolution on “Addressing the challenges of persons living with a rare disease and their families”, RDI has solidified the key tenets of UHC for Rare Diseases through regional consultations. By looking at the three pillars of UHC in general, namely population, services, and financial protection, and applying them to rare diseases in particular, this event solidified the next steps in implementing UHC for Rare Diseases.

Read the RDI statement.

You can read the UN’s Political Declaration on UHC here. (Rare diseases are mentioned in paragraph 55.)

Find out more about UHC for PLWRD. Our UHC Factsheet is available in English, Spanish, French, Arabic and Chinese.