Expert featured in video discussion:

Chandra Clark is the Executive Director of the VHL Alliance

The VHL Alliance (VHLA) is a non-profit organization dedicated to research, education, and support to improve diagnosis, treatment, and quality of life for those affected by von Hippel-Lindau Syndrome. In her role, Chandra is responsible for continuing to lead VHLA’s vision of curing cancer through VHL while providing ongoing support for patients through increased awareness, education, and advocacy.

Rare Disease and Advocacy among Underserved Populations and Patients in the US.


            Rare diseases, as the name suggests, is a debilitating or life-threatening disease affecting only a small percentage of the population. According to NIH, about 8% of people around the world suffer from a rare condition. The problem that comes with their rarity is they are seldom given the attention they deserve. That means, it may be hard to get timely treatment, physicians seldom have the experience to address them sufficiently, making accurate diagnoses can be challenging, and more. Read on to find out more about rare diseases and their impact on underserved populations.

The cost of a rare disease in the US and its impact on people living with them

            Despite advancements in science and medicine, under 5% of known rare diseases have FDA-approved treatments. For the rest, the reality is that some will have to get palliative care while others will just treat the symptoms to get the disease to remission. All these come with a hefty financial burden. Based on the Rare Disease Impact Report, treating rare diseases is costly, but the costs are constantly increasing, going beyond the capabilities of the majority living with them. To put it in perspective, the costs of living with rare diseases can be split into categories of

  • Direct healthcare costs like medicines, equipment, transport, etc.

  • Direct non-healthcare costs for things like social services and professional caregivers

  • Direct non-healthcare informal costs if you have to opt for informal caregiving

  • Indirect costs due to loss of economic activity, early retirement, and retrenchment

This is besides the fact that there is a need for a complete lifestyle change in most cases to manage the disease. From attending medical appointments to diets, everything seems to be geared at taking more money from the patients. Sadly, though, people living with the rare disease lack the presentation when these costs are being increased.

Ultimately, underserved populations, that is, minority groups and the poor, suffer the most as traditionally they are chronically underrepresented in every aspect of medicine. For instance, 87% of participants involved in genomics research worldwide were of European descent. This lack of diversity in genomics research makes it difficult for scientists to discover genomic predictors of rare diseases among underserved populations. Let’s not forget social determinants of health, such as poverty facing many minority groups, which only adds to this burden.

The importance of the patient voice in political advocacy 

Patients are the final link in the chain that makes the whole health care system work. As such, they need to be equally involved in making the decisions that will impact their lives.  The patient voice serves as an important feedback mechanism for healthcare practitioners, and it brings to light the patient’s perspective on important public health issues. Patient stories and experiences serve as a precedent that policymakers will use to adjust policies accordingly.

For instance, considering the matter of the costs of living with a rare disease, the patient voice is needed to set up the right prices that will make healthcare accessible to many others. A patient’s voice ought to be present in every aspect of the health care processes, from representation in clinical trials to the costing and service delivery process.

Equity, diversity, and inclusion among Rare Disease

Interaction Institute for Social Change | Artist: Angus and

Interaction Institute for Social Change | Artist: Angus Maguire. and

Drugmaker  Pfizer  believes that “Environment, race, ethnicity, culture, age, and gender are all factors that may impact patient outcomes but, historically, have not been fully accounted for in clinical trials.” For them, getting patient stories and opinions and integrating them into clinical trials is critical in transforming 21st-century clinical trials. Patient advocacy, according to the Journal of Medical Ethics and History of medicine, is about being empathetic (understanding a patient’s pain points feeling close to their plight) and protecting their interests (patient care, patient rights, and prioritizing patient health). Patient voice is only strengthened if the power of patient stories is appreciated with D&I in clinical trials, policy design, and even the medical insurance process. By collecting diverse opinions from underserved populations, the policies will aptly reflect the reality on the ground.

How patients can use their voices to be included

By being critical of the system, underserved populations can give feedback to the health systems on the things that affect them. Being quiet and taking it all in stride does not fully register the powers or people involved in policymaking hence why some policies feel out of touch and not based on reality. The power of patient stories is that it relays the impression of the impact of such decisions, which makes it easy to adjust them. Patients should be open to sharing their patient stories because if it is a pain point for one person, it is most likely a bother for thousands if not hundreds of thousands more. Even regulatory agencies recognize the importance of patient stories and are gradually establishing ways to incorporate them in the regulatory process. Take the FDA’s Patient-Focused Drug Development (PFDD) Initiative, for instance. This policy was implemented to encourage more patient input are incorporated into drug development and evaluation (you can read more about it here). What this offers is a chance for you, as a person living with a rare condition, to be part of the solution by sharing your experiences and perspective.

Besides government regulatory policies, several organizations provide vast opportunities for you to be a patient advocate. Joining the National Organization for Rare Diseases, for instance, is an excellent way of increasing awareness about these conditions as the organization’s goals revolve around such topics. NORD is always looking for people willing to participate in state advocacy so you can reach out and join the network at any time.

In closing

            The fact is, there’s still a lot that needs to be done to address the gaps, challenges, and disparities faced by those with rare diseases. But by working together, it is possible to fix these issues. After all, there’s power in numbers.


Shire, 2013. Rare Disease Impact Report: Insights from patients and the medical community. [online]. Available at:

Patient advocacy from the clinical nurses’ viewpoint: a qualitative study [online].

Increasing Diversity in Clinical Trials [online].

Data Sharing Advances Rare and Neglected Disease Clinical Research and Treatments [online].

Access to Affordable Medicines [online].