How lived experience powers rare disease advocacy

In cluttered and often under-resourced health systems, the needs of people living with rare diseases can be overshadowed by the demands of more prevalent conditions. Innovative collaborations are campaigning for global change and training medical students to be rare disease advocates.

Pediatrics For Life medical students are learning about rare diseases as part of their training. Photo: Dr Javeria Bilal Qamar (second from left)

The voice of the patient is increasingly central to healthcare but for rare diseases their calls for help can be whispers in the hurricane winds of competing demands for scarce resources.

While patient organisations for major conditions such as cancer, heart disease, and diabetes are backed by funding, government support, and professional advocacy teams, rare diseases groups can be little more than a few families forming loose networks. Held together by hope and a parental zeal to champion their children’s rights, they struggle through every stage of defining, raising, and projecting their voice.

But thanks to innovative collaborations and projects involving charities and frontline physicians, rare diseases advocates are turning up the volume to spread awareness and improve diagnostics, treatments, and resources to support communities that struggle to access healthcare.

Mapping the challenges of rare disease advocacy

The definition of a rare disease can vary but is generally accepted as a condition affecting fewer than one in 2,000 people in any World Health Organization (WHO) region—the majority of which manifest during childhood. In reality, many rare diseases impact just a handful of people who are dispersed around the world and have no means of forming effective pressure groups.

The disconnection is often compounded in low- and middle-income countries (LMICs) where cultural factors and stigma play a huge role in further isolating families with rare diseases, pushing them to the margins of society and the outer edges of what can be creaking, resource-starved healthcare systems.

A total of 300 million people in the world are living with rare diseases. Joining forces under umbrella groups provides strength, but these patient group organisations often operate from high- and middle-income countries where they have less exposure to specific diseases and cultural inflexions.

“In LMICs, these groups are vastly different in size and set-up. Some are just one person living with the disease or a parent or caregiver for someone with the condition. It is important to understand that they all have different needs,” explains Debra Bellon, strategic engagement manager at Rare Diseases International, a global alliance with presence in 150 countries that is committed to delivering a common voice for people living with rare diseases.

“The voices of the people living with rare diseases must dictate our advocacy for them.”

“Identifying those needs is a big issue for us, particularly in LMICs, because of the difficulty getting essential medicines. For instance, the Global Albinism Alliance is working really hard to get something as basic as sunscreen made available for people in Africa with the condition.”

Crucially, Bellon explains, effective patient advocacy groups for rare diseases are patient-run or governed by patients. “The voices of the people living with rare diseases must dictate our advocacy for them,” she says. “We learn from them and that bi-directional relationship is vital to ensure that we are responding to their needs—not a version of what we think their needs are.”

Banding together to push for global change

Rare Diseases International, which is funded and supported by philanthropic foundations and an alliance of pharmaceutical companies, helps small patient groups receive better services by creating tools for them, like templates for approaching healthcare authorities for basic resources, or publicity and marketing materials to catalyse support and awareness.

It also works at a global policy level and is steering a landmark resolution that will go before the World Health Assembly (WHA) in May. It calls on the WHO to develop a Global Action Plan on Rare Diseases and urges nations to develop national rare diseases strategies that are backed by funding and resources.

“The aim of the Global Action Plan on Rare Diseases is to create a clear roadmap that countries can use to improve rare disease care and services. It will have targets, timelines, and clear actions that will be adaptable to different countries, budgets, and political realities,” says Alanna Miller, Rare Diseases International’s global policy coordinator. “A lot of countries know rare diseases are an issue but don’t know where to start or how to move forward, so this will give clear guidance.”

Miller says patient organisations can use the Global Action Plan on Rare Diseases as “leverage to ensure that rare diseases are a priority and action is being taken” to advocate for resources.

“We want to help our members build their capacity to bring about change,” Miller explains. “Many leaders in rare disease organisations are really passionate people with lived experiences but they do not have access to the right networks and pathways to advocate on a large scale for better resources. We learn a lot from their experiences and expertise which helps us direct our efforts effectively.”

“Awareness is a key factor... We hear it time and again that our members go to their healthcare systems or ministries, and the people they engage with are not clear on what a rare disease is.”

Tackling rare diseases in LMICs often involves navigating a range of challenges, including lack of resources, low awareness, and stigma. But the desire to face the challenges is increasing and a prestigious Lancet Commission on rare diseases has just been announced. It will interrogate existing research, commission new studies, and instigate debate, as well as empower patient groups to develop impactful campaigns and initiatives supported by strong evidence.

“The commission will have a global input and these commissions often lead to significant change so we are hopeful that this will be a landmark moment,” Miller says. “Awareness is a key factor that needs to be addressed. We hear time and again that our members go to their healthcare systems or ministries, and the people they engage with are not clear on what a rare disease is.”

Schooling medical students in rare diseases

In Pakistan, the Pediatrics For Life initiative is teaching medical students about the challenges encountered by people living with rare diseases with the aim of creating career-long awareness and advocacy among medics.

With limited access to quality healthcare and high levels of social stigma, the prospects for effective care for people living with rare diseases in the country are slim—but the innovative project’s mantra is that today’s medical students are tomorrow’s physicians and leaders.

“It was evident that the patients I was learning from do not enjoy the same liberties with opportunity and quality of life that those with more common diseases do.”

By exposing them to the multitude of factors influencing people living with rare diseases, the scheme hopes to improve the students’ ability to diagnose rare diseases and advocate for patient resources, and in doing so create a medical cohort with deeper understanding of the genetic, scientific, and social influences that are in play.

“Having a rare disease and living in a low-income country like Pakistan, where access to healthcare itself is a rare commodity, makes those with rare diseases susceptible to many challenges,” says Dr Javeria Bilal Qamar, a recent graduate from The Aga Khan University’s Bachelor of Medicine and Bachelor of Surgery (MBBS) programme in Karachi, where she was an active Pediatrics For Life member.

“It was evident that the patients I was learning from do not enjoy the same liberties with opportunity and quality of life that those with more common diseases do. The low prevalence of rare diseases decreases the traction the issue gains in mainstream media as well as in academia,” she says. This results in “a dearth of scholarly pursuit towards these diseases, making them less well-known to everyone—including healthcare professionals.”

She explains that Pakistan’s high rate of consanguineous marriages likely increases the risk of rare diseases due to the genetic factors involved. “Like all poorly understood things in society, there is stigma attached to these illnesses and the people who live with them, making it highly likely that healthcare provided to these individuals lacks compassionate patient-centred care,” Qamar says.

“Many patients had had long, exhausting diagnostic journeys by the time they reached our clinic, and it was evident that any efforts to fortify our health system to be able to provide the complex care needed would be futile without healthcare providers recognising the challenges of those who live with rare diseases.”

Lived experience driving decision making

Pediatrics For Life ran a month-long initiative for 500 medical students led by Dr Salman Kirmani, who heads the Division of Women & Child Health at The Aga Khan University. It featured an academic and research component combined with practical sessions. At the practical sessions, people living with rare diseases shared their experiences with the medical students. There were also public displays with vibrant paintings, collages, and handprints to build a sense of connection between the medical students and their patients.

“Their voices were heard, their concerns acknowledged, and their efforts appreciated. We learned that, undoubtedly, rare disease individuals are the experts in their diseases.”

Four special guests shared their experiences: a 22-year-old man with pycnodysostosis, a 23-year-old woman with beta thalassemia, a 23-year-old man with a manganese transporter defect, and a 21-year-old woman with atypical hemolytic uremic syndrome. They discussed their journeys to diagnosis, their experience living with pain that others do not understand, the inequities in opportunities that they face, and the support they receive from rare disease community groups.

Pediatrics For Life medical students adding their handprints to a collage to build a sense of connection with people living with rare diseases. Photo: Dr Javeria Bilal Qamar

“Their voices were heard, their concerns acknowledged, and their efforts appreciated. We learned that, undoubtedly, rare disease individuals are the experts in their diseases,” Qamar says.

“I am confident that each of the medical students, when caring for someone with a rare disease, will respect the wisdom of their patient. Once students advocate for a cause, they inherently develop empathy. Empathetic medical students will form stronger associations with their patients and channel their efforts into strengthening systems to provide for their needs, including pushing for policymaking and government funding.

“I know for certain that all of the medical students who were involved with this initiative at my university will make sure to go the extra mile.”

Training medical students to advocate for rare diseases aligns with Rare Diseases International’s capacity-building efforts, fostering a sustainable approach rather than relying on isolated, short-term improvements driven by available funding.

“Collaborations between patient populations and clinical researchers is something to be positive about and we continue to be inspired by the momentum driven by people living with rare diseases and their patient groups,” adds Bellon.

“There is so much that still needs to be done, particularly in LMICs, but there is much to be positive about and the voices of those with lived experience will be heard.”