Dr Kirsten Johnson is the President and one of the founders of Fragile X International. She also sits on the boards of EURORDIS - Rare Diseases Europe.

Kirsten is a FMR1 premutation carrier and has two adult daughters who live with Fragile X Syndrome. Her husband lives with a rare cancer, hairy cell leukemia. Kirsten works as a professional musician.

Kirsten was one of the co-authors of the 2022 Cells article which led to the renaming of the FMR1 gene and protein, removing offensive and outdated terminology. She has also co-authored a 2020 article in Frontiers, on Fragile X Premutation Associated Conditions 'and was lead author on a 2024 article in JARID on a holistic approach to Fragile X Syndrome.

Kirsten says, “Like many people globally, I had not heard of our rare conditions until my daughters and husband were diagnosed. As a member of RDI’s Council, I will work for global policies on diagnosis, treatment and support, so that no-one is discriminated against or left behind.”

“I am keen to support RDI’s development of a Global Network for Rare Disease, believing that a person-centred global network of care and expertise will benefit all PLWRD worldwide."

“My vision is to have an inclusive world where everyone living with a rare condition, whether it is physical, mental, intellectual or a combination thereof, is valued and included as an equal member of society. As an RDI Council member I will be a strong voice for people living with rare conditions around the world, advocating that rare diseases are an international policy priority and supporting the empowerment of RDI members through knowledge exchange, networking, mutual support and joint actions. Alone we can make a difference, but together we can change the world.”

Kelly is the Founder and Chief Executive Officer of Rare Diseases South Africa, an organisation that was born out of necessity when her oldest child was diagnosed with Pompe disease at 11 months old. 

Since starting Rare Diseases South Africa, Kelly has taken Rare Disease policy and patient advocacy to new heights in South Africa to raise awareness and create a new narrative in terms of treatment and access for rare disease patients. Understanding the isolation and lack of support surrounding a rare disease diagnosis, providing a safe place for patients as well as families, and improving access to patient-centred care, with a specific focus on Low-Middle Income Countries, has become her passion.

Kelly is a member of IRDiRC’s Patient Advocates Constituent Committee, and is currently involved in the development of Africa Alliance for Rare Diseases. Kelly lives in South Africa with her husband and two daughters.

Possibilities and potential bring together the threads of Monica’s career. Working with and for individuals, families, communities, organisations and sectors, committed to equity and fairness, for many years.

Monica has worked across the community, health, education, business and government sectors. Monica joins the Rare Disease International Council, currently serving the genetic, undiagnosed and rare disease communities as the Chief Executive, Genetic Support Network of Victoria (GSNV), and founding member of GUARD Collaborative Australia, and Treasurer of the Asia Pacific Alliance of Rare Disease Organisations (APARDO). Leading in patient advocacy, presenting nationally and internationally and bringing experience of a range of senior leadership and strategic roles in Government, education, the private sector and international projects.

Monica is an Honorary Fellow of University of Melbourne and actively represents the community on many local, national and international committees, industry and advisory groups, research projects, advocacy and policy efforts and Boards .

Diego Fernando Gil Cardozo is the President of Enfermedades Raras en El Caribe y América Latina (ERCAL), the regional network uniting rare disease communities across Latin America and the Caribbean. Diagnosed with pulmonary hypertension 36 years ago, Diego has dedicated his life to advocacy, drawing from his personal journey and professional expertise to build stronger systems of care and representation.

He began by leading his national pulmonary hypertension group and later became Executive Director of FECOER, Colombia’s national rare disease federation, which brings together over 50 patient organizations. In 2023, Diego assumed the presidency of ERCAL, where he works closely with governments, industry stakeholders, and academia to foster collaborative policies and events that address care gaps in the region. Through ERCAL, Diego promotes a common collaborative platform that aligns patients, researchers, and policymakers around shared goals to improve health equity for people living with rare diseases. He is a firm believer in the power of international collaboration and is committed to amplifying Latin American voices within global movements.

As a Council member of Rare Diseases International, Diego brings regional insight and a strong advocacy network to co-create global tools and share best practices. He champions the connection between ERCAL and RDI to ensure Latin America’s priorities and innovations are reflected in international strategies. Diego’s leadership is rooted in the conviction that no country and no person should be left behind. His work embodies the strength of solidarity, collaboration, and a truly global rare disease movement.

Parvathy Krishnan is the Executive Director of the Krishnan Family Foundation, where she leads global programs focused on equitable engagement of patients, caregivers, and clinicians in underrepresented and Indigenous communities affected by ultra-rare diseases and hereditary cancers. Her journey into rare disease advocacy began as a mother navigating complex care systems following the diagnosis of multiple rare and ultra-rare conditions in her children. Motivated by personal experience—and the profound loss of her daughter—Parvathy founded the Krishnan Family Foundation to address inequities and amplify the voices of families often excluded from mainstream healthcare conversations.

With a clinical background as a dietitian trained at Duke and expertise in nutrition, Parvathy brings a unique blend of scientific knowledge and lived experience. Professionally, she has held leadership roles at Global Genes and the Rare Disease Innovations Institute, where she built international networks, launched educational initiatives, and empowered hundreds of patient-led organizations across the world. Her advocacy work extends to serving on the boards of organizations such as Team Telomere, the Undiagnosed Disease Network Foundation, and initiatives like SickKids, the North Carolina Serious Illness Coalition, and the NC Translational and Clinical Sciences Institute.

As a member of the RDI Council, Parvathy contributes deep insight into ultra-rare disease advocacy, particularly from under-resourced and historically excluded populations. She advocates for culturally relevant education, cross-border collaboration, and inclusive public policy to ensure global progress leaves no family behind. For Parvathy, rare disease advocacy is not just professional—it is profoundly personal. It is the driving force behind her mission to create a more just and connected global rare disease movement.