Our Team

Board of Directors

Rare Voices Australia’s (RVA) Board comprises dedicated and passionate people across Australia. A number of board members have a personal connection with a rare disease. The Board meets regularly and oversees RVA’s strategic direction and purpose.

Joanna Betteridge

CHAIR, Rare Voices Australia (VIC)

Joanna Betteridge, Principal of Betteridge Legal Consulting, is an employment and workplace safety lawyer and consultant and an accredited mediator. Joanna is also a Senior Fellow at Monash University and lectures in its Law Faculty post graduate program including lecturing in anti-discrimination law. Joanna is the immediate past Chair of the TEAR Australia Board (a global aid and development organisation) and has held a number of Board roles in a variety of not-for-profit and Government Boards since 2003. Joanna sat for many years on the committee of the Australian MPS Society, becoming involved soon after her two nephews, Jack and Tom, were diagnosed with MPS III, Sanfilippo Syndrome, in 1998.

Kane Blackman

DEPUTY CHAIR, Rare Voices Australia (WA)

Kane is a senior executive with the Western Australian Government at the Insurance Commission, which provides injury and liability insurances, and related investment functions. Prior to the public sector, Kane worked in various Australian and international resource companies and in private equity. Kane is a non-executive director of Therapy Focus, the largest provider of therapy services to people with disability in WA. He is an advisory council member of the WA Future Health Research and Innovation Fund, a member of the WA Minister for Health’s Precision Health Council and a member of the WA Minister for Disability’s Advisory Council. Kane is also a State Committee member of the Governance Institute, a lecturer in corporate governance, a chartered company secretary and MBA graduate. Kane has a son with Angelman Syndrome and is the Deputy President of the Angelman Syndrome Association Australia. Kane is also the Chair of RVA’s Nomination Committee.

Andrew Carter

Director, Rare Voices Australia (VIC)

Andrew is the founder of Commercial Eyes Pty Ltd and has over 30 years’ experience working in the health technology industry. Headquartered in Melbourne and employing over 110 people, Commercial Eyes has grown to be one of the foremost commercialisation firms in Australia. In addition to Andrew’s leadership and industry experience, he is a highly qualified and skilled company director, with over 20 years of governance experience in the private and not-for-profit sectors. He is passionate about social justice and an active volunteer in a range of community support programs. Andrew is a member of the University of Melbourne Master of Biotechnology Advisory Council, and past Chair and non-executive director of a variety of not-for-profit organisations including ARCS, BioMelbourne Network, Melbourne City Mission and Whitley College. He has a Bachelor of Science, Graduate Diploma of Business, Master of Commercial Law and is a member of the Australian Institute of Company Directors (AICD).

Kate Henderson

Director, Rare Voices Australia (QLD)

Kate is a non-executive director with a passion for ethics, mental health and data management and security. She is a Human Research Ethics Committee member at both the University of Queensland (UQ) and Queensland Health’s Forensic and Scientific Services, is a member of UQ’s Ethics Advisory Group, and is also Chair of the Governance, Risk and Ethics Committee at Making Good Alliance. Kate has been working with Beyond Blue for over four years as a Project Steering Committee member for two of their national programs, Be You and The Way Back Support Service. She has a background in the disability sector and spent many years as Business Process and Information Manager for a large public sector organisation. In 2012, Kate was diagnosed with Fibromuscular Dysplasia, a vascular disease that leads to narrowing, dissection or aneurysm of medium-sized arteries.

Raymond Saich OAM

Director, Rare Voices Australia (NSW)

Raymond is the President of the Australian Pompe Association and a Director of the International Pompe Association. He is a Pompe patient and started treatment for his Pompe disease with enzyme replacement therapy in 2007 and is now one of the longest treated Pompe patients in Australia. Raymond has been a strong advocate for people living with a rare disease since receiving his diagnosis in 2002. Prior to retirement, Raymond was a senior manager with an Australian multinational diagnostic imaging company and played a major role in the introduction of both CT and MRI scanning in Australia.

Robert Hendriks

Director, Rare Voices Australia (NSW)

Robert Hendriks graduated as a medical doctor from the University in Amsterdam and as a Master of Business Administration in Rotterdam. Robert has over 20 years’ experience as an international senior executive in the Pharmaceutical, Biotech, Natural Medicines and Medical Devices industries and currently is the Chief Executive Officer of global healthcare company SFI. Robert’s connection with rare diseases began in 2010 in his role as Managing Director of a pharmaceutical company that pioneered the development and delivery of therapies for patients affected by rare diseases. Robert worked with the Department of Health and Ageing to ensure patients have access to the products needed to treat their rare diseases. He is also a graduate of the Australian Institute of Company Directors.

Prof Eric Morand

Director, Rare Voices Australia (VIC)

Professor Eric Morand is Professor and Head of the School of Clinical Sciences at Monash Health, Monash University’s largest clinical school. He is also a specialist rheumatologist, and Head of the Monash Health Rheumatology Unit, the largest in Australia. He specialises in research and clinical care of systemic lupus erythematosus (SLE), as well as complex rheumatic diseases and rheumatoid arthritis. He is the founder of the Monash Lupus Clinic, Australia’s largest research-grounded clinic for patients with SLE, a founding member of the Australian Lupus Registry & Biobank, and Chair of the Asia Pacific Lupus Collaboration.

Viswanathan Narayanaswamy (Vishy)

Director, Rare Voices Australia (NSW)

Viswanathan Narayanaswamy (Vishy) is a Chartered Accountant by profession with extensive experience in audit and accounting advisory for over 20 years in India and Australia. Vishy is a member of the Institute of Chartered Accountants of Australia and New Zealand and the Institute of Chartered Accountants of India. He is also a member of The Tax Institute and is a registered tax agent with the Tax Practitioners Board. He is currently working with PwC in their Accounting Consulting Services team. Vishy leads all of Rare Voices Australia’s (RVA) accounting, financial and tax-related matters and helps the RVA Board in complying with all regulatory requirements. Vishy was diagnosed with paroxysmal nocturnal hemoglobinuria (PNH) disease, a rare blood disorder, in 2008 and has been receiving treatment since. He is also a board member with Sydney Blood Cancer Research Institute, which provides laboratory and clinical research for haematology patients.

Teresa Pilbeam

Director, Rare Voices Australia (QLD)

Teresa Pilbeam is a special education teacher, an advocate for informal family carers and has worked alongside Aboriginal and Torres Strait Islander people across Australia. Teresa has 30 years’ experience in special education, contributed to carer and disability reform for over 10 years, is an independent director on government and profit-for-purpose state and federal councils and boards, and has a lived experience of autism spectrum and complex disability. Teresa brings experience and expertise of governance, ways of working with Aboriginal and Torres Strait Islander people, and an enthusiasm for enabling the voice of informal family carers to be heard in cross-sector conversations.

Dr Carol Wicking

Director, Rare Voices Australia (QLD)

Dr Carol Wicking received her BSc (Hons) and MSc from the University of Melbourne and her PhD from the University of London. She has over 25 years of research experience, primarily investigating the molecular and cellular basis of a number of rare diseases including cystic fibrosis, naevoid basal cell carcinoma syndrome and a class of rare diseases known as ciliopathies. Carol is a past President of the Australian and New Zealand Society for Cell and Developmental Biology, and is the Independent Scientific Adviser and ex officio Board Member of Phenomics Australia, a capability of the National Collaborative Research Infrastructure Strategy. She is currently an independent consultant and an Honorary Associate Professor at the Institute for Molecular Bioscience at the University of Queensland. Carol is also a member of RVA’s Scientific and Medical Advisory Committee.

Scientific and Medical Advisory Committee

RVA’s Scientific and Medical Advisory Committee (SMAC) provides the organisation with medical and clinical perspectives, guidelines and information as needed.

SMAC Terms of Reference (PDF)

Prof Adam Jaffé
BSc (Hons), MBBS, MD, FRCP, FRACP, FThorSoc

CHAIR, UNSW/Sydney Children’s Hospital, Randwick, Respiratory Disorders, CF, Consumers, Clinicians & Clinical Trials (NHMRC) (NSW)

Professor Adam Jaffé is the John Beveridge Professor of Paediatrics and Head of the Discipline of Paediatrics and Clinical Campus, Randwick School of Clinical Medicine, UNSW Medicine, and a Paediatric Respiratory Consultant at Sydney Children’s Hospital, Randwick. Professor Jaffé was appointed as Consultant in Paediatric Research at Great Ormond Street Hospital for Children and headed up respiratory medicine research at the Institute of Child Health London in 2001. Adam chairs the Young Lungs program of Lung Foundation Australia and is on Lung Foundation Australia’s Rare Lung Diseases Committee. He is the Chair of the Research Advisory Committee of Asthma Australia. He was on the Lung Foundation Australia committee writing the National Strategic Plan for Lung Conditions (2019). His interests lie in the areas of asthma, cystic fibrosis, childhood respiratory infections and rare “orphan” lung diseases.

Clin/Prof Gareth Baynam
MBBS, DCH, FRACP, PhD, AFAIDH

Western Australian Register of Developmental Anomalies, GSWA, WADoH, Centres of Expertise, Phenotyping, Digital Health (WA)

Professor Gareth Baynam is a Head of the Western Australian Register of Developmental Anomalies (birth defects and cerebral palsy registers); Clinical Geneticist and Program Director of the Undiagnosed Diseases Program WA; Board Member of the Undiagnosed Diseases Network International; and Adjunct Genomics Policy Officer in the Western Australian Health Department. He is affiliated with the University of Western Australia; Curtin University; Murdoch University; Notre Dame University; Melbourne University; and Telethon Kids Institute. He is the Founder of an integrated suite of cross-sector and community engaging initiatives to improve the lives of people living with rare diseases including Project Y, Cliniface and Lyfe Languages. He Chairs and/or is one of the Executive or Advisories of multiple international rare diseases initiatives and has personal connections to rare diseases.

Dr Kaustuv Bhattacharya
MBBS, MRCPCH, FRACP, MD (res)

Metabolic Paediatrician, Genetic Metabolic Disorders Service (NSW)

Dr Kaustuv Bhattacharya is a UK trained metabolic physician. He moved to Sydney, Australia in June 2008 and became the department head of metabolic services at Sydney Children’s Hospitals Network before completing a sabbatical at Queensland Lifespan Metabolic Service in 2019. He returned to Sydney in 2020. He is a conjoint senior lecturer for Sydney University having completed a range of published therapeutic research for rare conditions. He has strongly advocated for rare disease therapeutic research and clinical infrastructure and was the chairperson for the International Congress of Inborn Errors of Metabolism in Sydney in 2021.

Prof Alan Bittles
AM, PhD, ScD

ECU/Murdoch, Community Genetics, Consanguinity, Intellectual Disability (WA)

Prof. Alan Bittles received his PhD from Queen’s University, Belfast, ScD from Trinity College, University of Dublin, and is a Fellow of the Royal College of Pathologists. He is Emeritus Professor of Community Genetics in the School of Medical and Health Sciences, Edith Cowan University and Adjunct Professor in the Centre for Comparative Genomics, Murdoch University in Perth, Australia. His present research centres on the impact of consanguinity and genetic sub-structure on disease gene expression, haemoglobinopathies, and intellectual and developmental disability, with projects in Australia, India and the UK. Prof. Bittles was Inaugural Chair of RVA’s SMAC from 2015-2017 and in 2017 he was appointed a Member of the Order of Australia (AM) for services in Medical Genomics.

Dr Lisa Ewans
MBBS, BSc

Clinical Geneticist (NSW)

Dr Lisa Ewans is a Clinical Geneticist at Royal Prince Alfred Hospital and Sydney Children’s Hospital and a Clinical Lecturer at The University of Sydney. She obtained her MBBS and BSc (Neuroscience) at Imperial College London before moving to Sydney to continue paediatric training, and received her Fellowship of the RACP in clinical genetics. In her practice, she sees a range of patients with rare genetic disorders of all ages, advocating for their care. She is completing a PhD in genomics applied to the diagnosis of rare genetic disorders through the Garvan Institute of Medical Research and UNSW. Her research and clinical interest is to help individuals with suspected but unsolved rare genetic disorders to find a diagnosis, and is co-leading a new undiagnosed diseases program through the Sydney Children’s Hospital Network.

Dr Paul Lacaze
PhD

U Monash U/Alfred, Genomics, Cohort Studies, Biobanking, Rare Disease Registries (VIC)

Dr Paul Lacaze is a geneticist and Head of Public Health Genomics at Monash University. He conducts research into the role of genetic data in public and population health, through large-scale cohort studies, biobanks, clinical trials, and registries. He leads genomics for the ASPREE study, Australia’s largest clinical trial and study of healthy ageing in >15,000 Australians and works with the Monash Registries Science Unit in the area of rare disease registries. He conducts research into the ethical, legal and social issues associated with the use of genomic information in society. He founded the Australian Non-Genetic Discrimination Working Group, a national body advocating for regulatory change around the use of genetic test results in life insurance. He is passionate about developing a National Plan and Alliance for Rare Disease Registries in Australia.

Dr Kristen Nowak
PhD

Director, Office of Population Health and Genomics, WA Department of Health (WA)

Dr Kristen Nowak has over 20 years’ experience as a medical researcher in the rare diseases field, focusing on finding new disease genes and evaluating potential therapies. Her office has a strong focus on the translation of evidence-based genomic and screening technology into the health system, and a longstanding emphasis on improving the healthcare journey of people with rare diseases. Kristen is a member for the Standing Committee on Screening, and the Project Reference Group on Health Genomics. She is also chair of the national Newborn Bloodspot Screening Program Management Committee. Kristen is an Honorary Research Fellow at the Harry Perkins Institute of Medical Research and an Adjunct Senior Lecturer at the University of Western Australia.

Dr (Elizabeth) Emma Palmer
PhD, FRACP, MBBS

Clinical Geneticist, Sydney Children’s Hospitals Network; University Lecturer, University of New South Wales (NSW)

Dr (Elizabeth) Emma Palmer is a clinical geneticist at Sydney Children’s Hospitals Network (SCHN) and university lecturer at the University of New South Wales in Sydney, Australia. She is passionate about improving the patient journey for all with rare genetic conditions and their families. Her work aims to improve the recognition of the possibility of genetic conditions by improving clinician education about rare diseases, maximising the diagnostic yield of genetic tests and optimising patient care by linking families to best practice guidelines, treatments and supports. She has over 50 peer reviewed journal articles, including those describing nine new genetic conditions. Dr Palmer strives to ensure that the patient and family voice is always central to all her research.

Dr Lemuel Pelentsov
PhD

Senior Lecturer, University of South Australia, RDs, (SA)

Lemuel Pelentsov is Program Director for the Bachelor of Nursing (Theory), University of South Australia. Since his eldest son’s diagnosis of a rare disease in 2008, Dr Pelentsov has been a passionate nurse-researcher investigating the support needs of parents and families with rare diseases. In his PhD, he developed the Parental Needs Scale for Rare Diseases (PNS-RD) – a tool which is now being used by researchers and clinicians in numerous countries. He has multiple publications and has presented his research at numerous national (Australian) and international conferences.

Prof John Rasko
AO, BSc (Med), MBBS (Hons), PhD, FFSc (RCPA), FRCPA, FRACP

Director, Department of Cell and Molecular Therapies, Royal Prince Alfred Hospital and the Gene and Stem Cell Therapy Program, Centenary Institute, University of Sydney (NSW)

Professor John Rasko is an Australian pioneer in the application of adult stem cells and genetic therapy, and President (2018-20) of the International Society for Cell & Gene Therapy. He is a clinical haematologist, pathologist and scientist with an international reputation in gene and stem cell therapy, experimental haematology and molecular biology. In over 170 publications he has contributed to the understanding of stem cells and blood cell development, gene therapy technologies, cancer causation and treatment, human genetic diseases and molecular biology. John has served on a number of hospital, state and national bodies. He is the recipient of national and international awards in recognition of his commitment to excellence in medical research, including appointment as an Officer of the Order of Australia.

Prof Jeff Szer
AM, BMedSc, MB, BS, FRACP

U Melbourne/Peter Mac and Royal Melbourne, Hbopathies, Bone Marrow Transplantation (VIC)

Jeff Szer AM is a senior haematologist in the Clinical Haematology Department at Peter MacCallum Cancer Centre and The Royal Melbourne Hospital (RMH) and Director of the Western and Central Melbourne Integrated Cancer Service. He established the first adult BMT centre in Melbourne in 1984 and has clinical research interests in all areas of haematology in particular improving the outcomes of treatment for leukaemia, lymphoma and myeloma and the non-malignant conditions of Gaucher disease and paroxysmal nocturnal haemoglobinuria. He is Past President of the Worldwide Network for Blood and Marrow Transplantation (WBMT) and is current President of the World Marrow Donor Association (WMDA). Jeff sits on a number of national and international committees and organisations involved in haematology and was a member of the Gaucher Disease Advisory Committee and chaired the PNH Disease Advisory Committee of the Life Saving Drugs Program of the Australian Department of Health and Ageing until the committees were disbanded in May 2014.

Yarlalu Thomas
BSc (MedSci)

Medical Student, University of Western Australia (WA)

Yarlalu Thomas is a Nyangumarta Pitjikarli man, originally from Warralong, southeast of Port Hedland. He is a current medical student at the University of Western Australia (WA) and is working as a Precision Public Health Fellow in rare and genetic diseases supported through the Roy Hill Community Foundation. From this work, he became the WA state recipient at the Young Australian of the Year Awards in 2020.

Dr Carol Wicking
BSc (Hons), MSc, PhD

Independent Consultant (QLD)

Dr Carol Wicking received her BSc (Hons) and MSc from the University of Melbourne and her PhD from the University of London. She has over 25 years of research experience, primarily investigating the molecular and cellular basis of a number of rare diseases including cystic fibrosis, naevoid basal cell carcinoma syndrome and a class of rare diseases known as ciliopathies. Carol is a past President of the Australian and New Zealand Society for Cell and Developmental Biology, and is the Independent Scientific Adviser and ex officio Board Member of Phenomics Australia, a capability of the National Collaborative Research Infrastructure Strategy. She is currently an independent consultant and an Honorary Associate Professor at the Institute for Molecular Bioscience at the University of Queensland. Carol is also an RVA Director.

A/Prof Yvonne Zurynski
BAppSc, MAppSc, MHpol, PhD

A/Prof of Health System Sustainability at the Australian Institute of Health Innovation, Macquarie University (NSW)

Yvonne Zurynski, in addition to her role at Macquarie University, leads the Coordinating Centre of the NHMRC Partnership Centre in Health Systems Sustainability. She is Adjunct Associate Professor, University of Tasmania and Honorary Associate Professor at The University of Sydney and Curtin University, in Perth, Western Australia. As a mixed methods researcher, implementation scientist, epidemiologist, program evaluator and policy analyst, she consolidates broad knowledge and understanding of complex systems from different viewpoints. Using novel co-design approaches she has led evaluations of complex integrated care interventions for children and adults with chronic, complex, and rare disease. She was instrumental in the call for a national rare disease strategy in 2009 and contributed significantly to the Care and Support Pillar of the National Strategic Action Plan for Rare Diseases.

RVA Staff

RVA’s staffing team is dedicated to working towards the best outcomes for Australians living with a rare disease.

Nicole Millis

Chief Executive Officer (VIC)

A qualified social worker, Nicole has both personal and professional experience in the rare disease sector. Nicole has over 12 years’ worth of experience in rare disease advocacy, particularly regarding access to treatments. Since 2018, Nicole has held the role of consumer nominee on the Life Saving Drugs Program Expert Panel. Under Nicole’s guidance, RVA led the collaborative development of the National Strategic Action Plan for Rare Diseases, the first nationally coordinated effort to address rare diseases in Australia.

Louise Healy

Education and Advocacy Manager (QLD)

Louise has post-graduate qualifications in psychology and has managed a consulting business for the past seven years. Her connection with rare conditions began when her first child was born with a rare metabolic disorder. Louise has been involved in rare disease support and advocacy for over 10 years and she is the current Vice President of the Metabolic Dietary Disorders Association (MDDA). She has led successful advocacy campaigns for access to medicines and support programs for people with rare disorders of protein metabolism. Louise is a previous RVA Board member, current member of the Queensland Genomics Community Advisory Board and a founding board member of the Global Association for PKU.

Sarah Cannata

Communications Manager (VIC)

Sarah is a passionate storyteller, a qualified journalist, and has over 10 years’ worth of experience working in Communications. A published author, Sarah has extensive experience across a range of sectors, particularly in the not-for-profit space. She is committed to using her skills to benefit Australians living with a rare disease.

Falak Helwani

Research and Evaluation Manager (QLD)

Falak is a former research scientist with a PhD in molecular cell biology from the University of Queensland and postdoctoral experience in hematopoietic stem cell and bone marrow transplant biology at the Mater Medical Research Institute. She has co-authored several publications and has presented her research both in Australia and overseas. Falak paused her research career to care for her daughter who has a rare congenital heart defect and later learned that her youngest son has a rare auto-inflammatory disease. As RVA’s Research and Evaluation Officer, Falak is committed to ensuring that evidenced-based understanding of rare disease biology drives advocacy and policy reform.

Anne Hunter

Executive Assistant to the Chief Executive Officer, Administrative Manager (VIC)

Anne works for RVA as our Administrative Officer and is based in Victoria. Anne has a personal connection with rare disease and lives with Fabry Disease. She also cares for a child living with Fabry Disease. Anne is on the Fabry Australia committee.

Malcolm Fung

Operations and Compliance Manager (VIC)

Malcolm has worked in the not-for-profit sector in Australia and internationally since 2001. This has included roles with organisations working with people with disabilities and other vulnerable communities in developing countries. His background is in internal auditing, risk management and operations. Malcolm has a personal connection with a rare disease and this has motivated him to use his skills and experience to contribute to RVA’s work.

Amanda Choo

Resources and Information Officer (SA)

Amanda comes from a background in scientific research, having graduated with a PhD in Sciences (in the area of Genetics) from the University of Adelaide. She has previously worked on research projects studying Mucopolysaccharidosis Type III (MPS III, Sanfilippo Syndrome) and the tumour suppressor gene WW domain containing oxidoreductase (WWOX). Amanda has also worked as a University tutor for Medical Genetics. Since then, she has gone on to lead projects on developing genetic technologies for the horticultural sector, all whilst maintaining an active interest in human genetics. Amanda has a personal connection with rare disease, living with myasthenia gravis, and is passionate about using her scientific skills and knowledge to develop and provide customised, evidence-based information about rare diseases for the rare disease community.

Freya French (On Maternity Leave)

Project Officer — Mental Health & Wellbeing (VIC)

Freya is passionate about mental health and wellbeing and applying her skills and experience to her work with RVA and the rare disease community in her role as a Project Officer. Freya has tertiary qualifications in a Bachelor of Health Sciences, Master of Occupational Therapy Practice. Freya has over 8 years’ experience working in the health sector, with previous roles in health service evaluation projects and research as well as clinical roles in occupational therapy. Primarily, Freya’s clinical experience has been in the field of mental health, having worked in both hospital and community based mental health settings.

Rosanna Commisso (Maternity Leave Position)

Project Officer — Mental Health & Wellbeing (QLD)

Rosanna has over 30 years’ experience in the community, hospital and corporate health sectors. She commenced her career as a hospital pharmacist, before moving into the pharmaceutical industry working with psychiatrists Australia-wide. Rosanna then retrained in community development and has extensive experience in mental health. She is passionate about empowering individuals through education.

Deborah Lowndes

Communications and Administrative Officer (NSW)

Deborah has over 20 years of experience operating her marketing, event and business consulting services for a range of Australian and international organisations in the not-for-profit and for-profit sectors. Deborah is currently studying a Bachelor of Psychological Science and is passionate about what drives human behaviour. Deborah lives with Addison’s Disease and is on the executive board of the Australian Addison’s Disease Association Incorporated. She is excited to work with the RVA team and contribute to improving the lives of people living with a rare disease.

Jess Brooklyn

Education Project Officer (WA)

Jess brings a wealth of experience from the youth work and tertiary education sectors. A qualified sociologist, Jess has always sought to help others through grass-roots movements, advocacy and building capacity through education. After more than 20 years seeking medical help for their condition, Jess was diagnosed with Ehlers-Danlos Syndrome in 2020. Jess is very passionate about promoting awareness and understanding so that others can avoid diagnostic delays and obtain the support required when living with a rare disease.

Cara Philpott

Project Officer — Western Australia (WA)

Cara has an extensive background in human resources and organisational development with global and national experience across many industries. She has tertiary qualifications in psychology, commerce and management along with a Master of Finance and is currently pursing studies in health economics. Cara’s passion for disability and health advocacy and inclusion developed when her son was diagnosed at two and a half years of age with Duchenne muscular dystrophy. She is actively involved with many rare disease support organisations globally and serves on the board of Muscular Dystrophy WA. As RVA’s Project Officer in Western Australia, Cara is engaging in projects aimed at strengthening consumer involvement to drive systemic change for people living with a rare disease.