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Collaboration, Health Literacy, & Technology: A Patient Advocate’s Perspective From NIH’s Rare Disease Day 2021

Wednesday, March 31, 2021

UBC’s Senior Director of Patient & Physician Services Shazia Ahmad attended the virtual Rare Disease Day 2021 on March 1

Individuals living with rare diseases have a lot to navigate with regards to the availability of, and access to, life-saving medications. They also face additional stressors associated with the current global health crisis posed by COVID-19 over the past year. Earlier this month, I participated in the virtual Rare Disease Day 2021 activities hosted by the National Institutes of Health (NIH) Clinical Center and National Center for Advancing Translational Sciences (NCATS) as part of the global observance to focus the world’s attention on this important subject.

The energy and passion researchers, physicians, regulators, and patient advocates harness to work together was clear.  Rare Disease Day 2021 was an opportunity to collaborate, learn from one another, and celebrate the work that continues to move forward. Most importantly, this day enabled us to reinvigorate our passion to advance treatments for rare disease patients and reminds us that the patient is the central point of our work. COVID-19 has taught us that we are all still connected regardless of where we live.

Dr. Christopher Austin, Director of NCATS, commended the rare disease community on their commitment to progressing research for rare disease patients and expounded on the importance of rare disease treatment. “The last year has seen a historic…accuracy in the development of therapeutics and vaccines for COVID-19 and the urgency we have seen in the public and private sector is the kind of urgency that we feel in the rare disease community every day.”

Here are some key messages from the event:

Collaboration is Key

The importance of industry and academia collaboration with patient advocacy groups was apparent throughout Rare Disease Day 2021 and was shared across several sessions. I had the opportunity to moderate a session on “Industry and Advocacy Collaborations ─ Making it a Win-Win.” Panelists Nadia Bodkin, PharmD, Rare Advocacy Professional and Co-Founder of the Rare Advocacy Movement (RAM), and Christopher Missling, Ph.D., President & CEO of Anavex Life Sciences, Corp., shared the importance of learning the stakeholder’s goals and objectives, as well as encompassing all stakeholders involved in the patient community, including caregivers and care partners. Dr. Missling shared an example where leveraging the caregivers in the Rett patient community enabled them to identify gaps in understanding the challenges of patients with Rett syndrome.  Together, industry was able to better collaborate with the patient community to design a trial that was more inclusive and addressed the challenges around mobility by reducing visits outside of the home and added the flexibility of blood draws in the home, ultimately increasing patient participation in the trial.

Another panel discussed advocacy as a driving force in advancing progress in rare disease research −especially in rare cancers. Dr. Eric Sherman, a medical oncologist at Memorial Sloan Kettering Cancer Center, shared “Advocacy groups bring people together where progress otherwise wouldn’t be able to happen.”

Jim Palma, Executive Director of the TargetCancer Foundation, discussed the study called TRACK (Target Rare Cancer Knowledge), a rare cancer precision medicine clinical trial. TRACK incorporated remote consenting so patients can enroll from anywhere in the U.S. with no need to travel or change their treating physician. TRACK is unique in that it is a clinical study fully initiated and managed by an advocacy foundation. It provides comprehensive genomic profiling at multiple points during the study which will both provide critical information to the patient and develop unique data to help understand how cancer changes over time.

It is through the tremendous work of patient advocates and through collaborations with industry that we can better understand the complexities of a rare disease to effectively contribute and advance new therapeutic developments.

Importance of Improving Health Literacy across Rare Diseases

Rare disease families are faced with numerous challenges in health literacy. With the lack of information about certain rare diseases and the challenges associated with getting accurate information for patients, caregivers, and even physicians, improving health literacy is especially important in rare diseases. Improved health literacy helps patients feel supported and become empowered to be experts in their condition and make informed decisions regarding their care and treatment. Panelists shared the challenges patients and families face in gaining access to and understanding health information about a particular rare disease.

Panelists emphasized finding the people who can speak the science. Tracy-Dixon-Salazar, Ph.D., Executive Director of the Lennox-Gastaut Syndrome (LGS) Foundation, presented on “Meeting Patients Where They Are At.” Physicians, patients, caregivers, and care partners have a shared responsibility in literacy. Clinicians must explain health conditions and treatment options in ways that are easy to understand. By building partnerships between the advocacy community and researchers, health literacy can be improved by providing resources that make it easy to understand a particular disease.  Luke Rosen, M.S., Founder of, shared how different tools were developed in partnership with those who could translate the science to make it easier for parents and patients to understand the terminology associated with clinical trials and their disease.

Partnerships between clinical experts and patients to co-create patient education materials that respond to the issues and questions most relevant to patients and families are critical in improving health literacy and will continue to have a positive impact on the rare disease community.

CRISPR Technology ─ Bringing New Hope for Rare Diseases

Jennifer A. Doudna, Ph.D., co-winner of the 2020 Nobel Prize in Chemistry for work that led to the CRISPR/Cas9 gene-editing tool, presented about this breakthrough technology that allows for precision editing of DNA. Dr. Doudna highlighted Victoria Gray, the first person in the United States to be successfully treated for sickle-cell disease in 2019 with the help of CRISPR.  The possibilities are endless in medical research. Rapid advances in CRISPR could impact many rare diseases caused by genetic mutations, including thalassemia, retinal diseases, and muscular dystrophy.

The Voice of Rare Diseases

I was struck by a presentation given by Jacob Thompson, a rare disease patient who was diagnosed with Friedreich’s Ataxia (FA) at the age of 24. He shared his personal reflections about how music helps him hold on to hope. Jacob uses his voice as a hip-hop artist and poet, and his poetry won the NCATS Rare Diseases Are Not Rare Challenge.  Jacob’s entry “Keep on Fighting” is a spoken word performance to encourage those who are challenged with a rare disease and to raise awareness for rare diseases. Jacob emphasized the importance of considering the ways a patient is impacted so that we can really understand each patient’s journey. Understanding the day-to-day hardship that patients with rare diseases, parents, and caregivers deal with is imperative to advancing therapies for rare diseases. To really understand rare diseases, we must listen to the stories, the challenges, and the complexities surrounding rare disease patients. What really leaves a powerful message that cannot be forgotten is the power of the hope visible in Jacob’s piece and in every patient advocate.

For many patients, it takes years to find a diagnosis. For many, there is no diagnosis. We have heard the saying in medicine, “When you hear hoofbeats, think HORSE, not zebra.” To a clinician, this means to look for the obvious diagnosis, not the rare one. But sometimes what we encounter is a zebra, not a horse. In this community, the zebras are common, but their experiences are extremely unique. Every patient and patient advocate has an incredible story, and I am always moved by the stories and advocacy at Rare Disease Day.

About the Author

In my role at UBC, I work with patients and caregivers to assess the feasibility of clinical protocols and better understand small patient populations. We work closely with patient advocates and sources such as social media to connect people and speed drug development through clinical trials. Being on the ground, I can help alleviate trial-related patient and caregiver burden by offering home visits to clinical trial patients or by providing participant travel services. During the COVID-19 health crisis, our work to support sponsors continues and we are especially committed to ensuring patients with rare diseases receive the support that is needed to continue their participation in clinical trials.

To learn more about our big solutions for small patient populations, contact us.

Rare disease patient and family on telehealth call