This perspective was contributed by Melissa McNeilly, New Tactics Project Manager for Digital Content Creation, rare disease mom and co-founder of the KARES Foundation.

Healthcare is a human right. So why is it so difficult to access?

According to the World Health Organization, half of the global population lacks access to basic health services. Even for those who can access health services, medical expenses push 100 million people into poverty every year. The access gap is widest in low-income countries in Sub-Saharan Africa and South Asia.

Article 25 of the Universal Declaration of Human Rights states:

Everyone has the right to a standard of living adequate for the health and well-being of himself and of his family, including food, clothing, housing and medical care and necessary social services, and the right to security in the event of unemployment, sickness, disability, widowhood, old age or other lack of livelihood in circumstances beyond his control.

Quality, affordable healthcare is necessary for individuals to fulfill their human rights to life, family and security.

As is the case for many human rights advocates, I am committed to this issue because of personal experience. My son has a rare genetic disorder called KDM5C (Claes-Jensen syndrome). It causes intellectual disability, motor deficits and speech challenges. He will require lifelong care. As the mom of a child with a rare disease, I know first-hand how difficult it can be to navigate the complexities of the US healthcare system. I’ve spent countless hours fighting insurance companies for coverage of basic medical necessities and educating his doctors on a disease most have never heard of. I even joined forces with other “moms on a mission” to form a patient advocacy group called the KARES Foundation.

Despite these challenges, I recognize that my son’s access to the basic human right of healthcare is largely based on privilege – privilege of location, economics and race. We were lucky to be able to get an appointment with a geneticist in the US with only a six month wait. We have jobs with generous Personal Time Off policies that allow us to be able to attend therapies and appointments. We have access to transportation to travel to the best hospitals in North Carolina. Still, it took four years to get my son’s diagnosis.

Rare disease families refer to this as the “diagnostic odyssey”– the time from noticeable onset of symptoms to diagnosis. The average diagnostic odyssey in the US is 6 years. But what if you’re living in extreme poverty? In a conflict-affected area? In many low-income countries, the diagnostic odyssey can be never-ending. Rare disease advocates around the world are working to suspend the diagnostic odyssey to ensure that no patient or family is left behind.

I recently attended the RARE Health Equity Summit in Atlanta, Georgia, to hear from some of these advocates. The RARE Health Equity Summit was presented by Global Genes in partnership with the Rare Disease Diversity Coalition. This conference convened doctors, researchers and caregivers to examine inequities that exist in healthcare, particularly as they relate to people living with a rare disease.

Dr. Charles Hammond, a neurologist from Ghana, spoke about removing hurdles to clinical care in low and middle income countries. Dr. Hammond is one of only two pediatric neurologists in Ghana, a country of 33 million people. In low-income countries, there is often an acute lack of data, especially when it comes to rare diseases because there are not enough resources, training and expertise to diagnose them. Genetic variants like my son’s would be underdiagnosed, misdiagnosed or missed altogether. Even if a particular disease were suspected, it is difficult to access the necessary testing to make a final assessment and provide closure to a patient and their family. Any genetic testing that is available must be paid out of pocket, and samples are typically sent overseas as there are no local labs to run these tests. Therefore, families are usually only able to get a diagnosis if they have financial means.

Cultural stigma in some countries can also act as a barrier to access to healthcare. There are various cultural, traditional and religious beliefs that might prevent a family from acscribing symptoms to a scientific explanation. According to Dr. Hammond, in Ghana, there is a pervasive mentality that “The gods cannot be questioned.” 

In parts of Northern Ghana, a disabled child might be referred to as “spirit child.” “Spirit children” are often believed to possess powers to cause trouble or misfortune for their families. These disabled children are sometimes intentionally starved or subjected to ritual killings. Although these practices were banned in 2013, grave violations of the human rights of disabled people and people who experience mental health struggles are still taking place today. 

As a mom, it’s devastating to think that if the lottery of birth had played out differently for my disabled son, this could be his fate. How does the medical community overcome the challenges of deep-rooted misconceptions, poverty, and conflict to ensure all people can access their basic human right of healthcare? What systems need to be put in place to implement adequate medical care in contexts that are not well-resourced?

According to many of the speakers at the Rare Health Equity Summit, we can start with understanding the challenges of different underserved communities. We must listen and learn as much as possible. We must focus on education that builds empowerment rather than fear and shame. Education in itself can often be biased – involving the delivery of information from someone who “knows” to someone who doesn’t. Medical providers must partner with the community, rather than taking white saviorism’s approach of providing services for the community. Providers must develop a cognizance of their own ignorance and the ability to listen to marginalized voices as they deliver information to under-resourced communities.

A collaborative session amongst healthcare advocates and industry professionals - RARE Health Equity Summit

Around the world, social disadvantage is linked to health disadvantage and lower life expectancy. We must create the conditions for patients to feel empowered to control their own healthcare. The medical establishment has historically interacted with low-resource communities for its own benefit – justifying the experimental exploitation of black and brown bodies with theories of eugenics and social Darwinism. The interactions of medical providers in under-resourced communities and communities of color must be relational, not transactional. Patients in low-resource contexts might enroll in studies and clinical trials because there is simply no other option. Otherwise, these patients would not have care. In order for everyone to access their right to healthcare, we must first address issues of access to basic care and direct services. A few of the tactics that grassroots provider-advocates are using to address issues of access include:

• supporting mobile clinic options
• prioritizing language access and translation services
• ensuring resources are culturally and linguistically tailored to the population served

Additionally, in the case of neurodivergent and disabled children, we cannot subscribe to the largely Western ideal that the only desired outcome of medical care is a complete and total “cure”. Oftentimes, neurodevelopmental diagnoses, such as my son’s, are delivered with remorse or shame. They shouldn’t be. Instead, we should educate families that there is no such thing as a perfect genome. Everyone has genetic changes, and we all pass them on. It’s not always about eradicating the “problem,” but reframing our understanding of the diversity of experiences and abilities that make us human. For families like mine, sometimes the best treatment for a life-limiting disorder simply includes support, community, joy, and belonging. Medical providers can work with patient families to address what can be done to tap into existing networks of support and improve quality of life despite where an individual is in their diagnostic journey.

Lack of rare disease awareness extends the diagnostic odyssey for families and increases morbidity. Universal healthcare is a human right for all people, including those living with a disability or a rare disease. According to data from the World Health Organization, 1 in 5 refugees are disabled, compared to 1 in 7 people globally. People with disabilities are disproportionately affected by forced displacement and experience:

• higher instances of abandonment
• higher instances of violence and abuse
• barriers to access basic services
• exclusion from education and livelihood activities

In 2021, the United Nations adopted the first-ever Resolution on “Addressing the Challenges of Persons Living with a Rare Disease and their Families.” This milestone was the outcome of coordinated advocacy from civil society groups globally, including Rare Diseases International (RDI), the NGO Committee for Rare Diseases, and EURORDIS – Rare Diseases Europe.

“Recognizing the need to promote and protect the human rights of all persons, including the estimated 300 million Persons Living with a Rare Disease worldwide.”

-UN Resolution on PLWRD, 2021

A speech by former US Representative, G.K. Butterfield, at the RARE Health Equity Summit

This resolution was the result of the mobilization of patient advocacy alliances and its passing now allows advocates and activists to call on the World Bank, UNESCO, the Human Rights Commission and others to ask how they are going to address issues of health equity and discrimination in rare disease healthcare at a global policy level. Some of the key commitments of this groundbreaking resolution include:

• Implementing measures to address the disproportionate effect of poverty, discrimination, and lack of employment
• Accelerating efforts to achieve universal health coverage for all persons, including those living with a rare disease
• Promoting access to full and productive employment and financial inclusion for people living with rare disease and their families

This is a tall order for a majority of countries in the world, including the US. But this resolution provides hope for families like mine. Hope that one day, we might create a world where individuals like my son might fully access their “highest attainable standard of health as the fundamental right of every human being.”

If you’re interested in joining me and advocating for persons living with a rare disease, check out the #Act4Rare toolkit by Rare Diseases International, available in English, Spanish and French.

This perspective was contributed by Melissa McNeilly, New Tactics Project Manager for Digital Content Creation, rare disease mom and co-founder of the KARES Foundation. Melissa’s son is affected by an ultra-rare disease called KDM5C (Claes-Jensen syndrome).