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“Rare disease breakthroughs are driving innovations towards clinical applications in both common and rare disorders.” NIH Vision for Rare, Joni L. Rutter, PhD, Director NCATS¹, NIH²

This being my first medical conference, I didn’t know that tote bags would be handed out but I quickly came to appreciate the ability to collect tangibles – takeaways to bring home for you. In addition to meeting sponsors and gathering their literature and little tchotchkes (like this adorable zebra), I gave out MdDS literature and educated them on the basics of the disorder. It’s neurological. Patients feel as if they’re constantly moving, as if on a boat, for months or even years. And there isn’t a treatment yet. Searching for in-roads to identify new researchers or other parties who might have an interest in MdDS or the neurological space, I even spoke with pharmaceutical companies. 

Over the course of the three-day event, I met many other patient advocates with shared challenges and successes. We discovered and discussed resources to increase medical education and raise awareness of our individual rare disorders, of which there are over 10,000! We banded together in NORD’s very first Affinity Groups to discuss topics such as fundraising, state and federal policy, and volunteer recruitment and engagement. And we brainstormed ideas to increase the value that our organizations bring to their community members – that’s you!

Patient Advocacy Organizations (PAOs) need Patient Advocates and Patient Ambassadors to succeed.

In Part 1, I asked you to start thinking about ways to add your voice as a Patient Advocate or a Patient Ambassador, to raise awareness of MdDS. To that end, here are some resources I found for you at the conference. They’ll all enable you to be an active participant in your own advocacy. And some can benefit you immediately. I hope you take advantage of these resources. By doing so, you’ll help the MdDS Foundation and improve the health outcome for the entire MdDS community. 

Self-advocacy Resources

• Living Rare Study: Despite one in ten people living with a rare disease, this population is underrepresented in public health data. The just-launched Living Rare Study is designed to capture data that reveals how rare diseases affect every facet of life – from healthcare access and treatments to emotional, social, and financial difficulties. Findings will be used to advocate for improved health policies and guide the distribution of resources where needed most. The study can be completed in 45-60 minutes (and saved along the way); it is longitudinal and you will receive annual reminders.
• Rare Action Network: tools, training and resources to become effective advocates for rare diseases through state based initiatives across the United States. RAN members will improve the quality of life for rare disease patients and their families by ensuring rare diseases become a national priority through policy, awareness and education. 
• RDCA-DAP free online (and mobile-friendly) courses for patients and advocates to “Learn how to advance therapies for your rare disease.” Of particular interest: 
  • Part 1: Foundations and Pre-Clinical Research – Find out what natural history studies are, how they are designed, and how they can contribute to drug/therapy development.
  • Part 3: The Basics of Clinical Trials – learn how your patient experience data can inform clinical trial design.

Patient Resources

• Angel Flight and Sky Hope: both offer free flights for patients to get medical care that is too far or too expensive to get to.
• RareCare® Patient Assistance Programs: financial assistance, caregiver relief, educational resources, webinars and events³
• #RAREis Scholarship Fund: the EveryLife Foundation for Rare Diseases scholarship is provided, in partnership with Amgen, to enrich the lives of adults living with rare diseases by providing $5,000 to support their educational pursuits.

Increasing Awareness Opportunities: 

• High school or college student with MdDS? Students for Rare® is a great program for students to become involved in helping people with rare diseases live better lives. Students of all disciplines spread awareness of rare diseases and explore opportunities to work with the rare disease community. About 30 states have at least one chapter.
• Running for Rare is NORD’s running team that people can join at the Boston Marathon, NYC Marathon, and the Marine Corps Marathon. You can join the runners or the cheer team.⁴
• Rare Awareness Radio just launched to give you an amplified voice. They plan monthly podcasts featuring the Founder Series, the Patient Series, the Caregiver Series, the Researcher Series, and the Provider Series. 

The last day of the conference, I had the honor of meeting and listening to folks from the Food and Drug Administration (FDA), which regulates the sale of medical device products in the US and monitors the safety of all regulated medical products. Fewer than 5% of rare disorders have an FDA-approved treatment! FDA Commissioner Robert Califf, MD, emphasized that the FDA wants highly effective Patient Advocacy Organizations to engage with them. As the role of PAOs, like the MdDS Foundation, grows and the development of software and VR headsets or other medical devices is explored, more standardized guidance surrounding interactions with biopharma and medical device product developers is necessary. This is another great opportunity for you to take action, as a Patient Advocate or Patient Ambassador.⁵

Want more deliverables?

If you’re interested in the resources that I will be presenting to the MdDS Foundation board of directors, to increase its effectiveness as a PAO, you’ll have to join the board. While directors are nominated and elected, anyone interested in helping can become a board member, if they can bring skills or knowledge that will advance the Mission. Are you skilled in graphic design, PR, fundraising? After 16 years of service, our treasurer is preparing to retire. Other openings are in social media, lead generation (identifying healthcare providers and researchers, especially), outreach (engaging with FDA, for example), and we could use a Secretary. Explore the Volunteer page of mddsfoundation.org for more. If there is a position you can fill or want to create, tell us how you can help the MdDS Foundation. Just contact us describing your skills and ideas, and we’ll start a conversation.

And don’t forget to leave a comment on this blog post, with your answer to the trivia question for a chance to win a zebra. I’ll pick a randomly selected winner on December 6 [*ships to US addresses only].

Good Luck!
Holly Balog, Board Director
Flight-triggered, Dx’d 2007

¹ The National Center for Advancing Translational Sciences (NCATS) is the home for rare disease at NIH. It speeds the translation of scientific discoveries, turning observations in the laboratory, clinic and community into new interventions and treatments for public health.

² The NIH is the National Institutes of Health, the primary Federal agency for conducting and supporting medical research. Learn about the MdDS Foundation’s research funding program on the Apply for a Grant page of our website. Applications must be provided in the format of a NIH-style grant application.

³ See also, https://rarediseases.org/wp-content/uploads/2024/02/Patients-and-Caregivers.pdf

⁴ A crowdfunding platform, runners’ stories are featured on NORD RfR website. Example: https://donate.rarediseases.org/fundraiser/5473935

⁵ Learn About FDA Patient Engagement, https://www.fda.gov/patients/learn-about-fda-patient-engagement