Anatomy of a Next Generation Rare Disease Patient Advocate

April 19, 2023

Patience is not always a virtue. In the world of rare disease, drug developers and patient advocates alike have come to understand that time is more valuable than money. Through ingenuity, determination, and a little luck, additional funding always seems to remain possible, but the incessant advance of time is an ever-present threat for someone seeking treatments for a progressive illness.

The growing sophistication of patient advocates about the drug development process and technological advances continue to transform the rare disease landscape, giving rise to an increasing number of next-generation patient advocates.

In grammatical terms, these advocates have moved from direct objects to subjects. They are taking action rather than being passive participants in their own healthcare. They are connecting to other patients from around the globe, building communities and collaborations, and conducting research even from within their homes.

Global Genes announced in October 2022 that it would merge with the rare disease patient data-sharing platform RARE-X to provide next-generation rare disease advocates the tools and resources they need to accelerate their drive to treatments. The merge recognizes the central role data plays in improving an understanding of rare diseases, speeding the ability to diagnose them, and accelerating the development of therapies to treat them.

There was a time when all a next-generation advocate who wanted to take a hands-on approach to drug development could do was launch their own drug companies. The disaggregation of research, discovery, drug development, and manufacturing has unshackled these processes from the pharmaceutical industry and given rare disease advocates the ability to access the expertise and tools along the full continuum from the lab to the clinic.

And the emergence of powerful information technology tools, cloud computing, and artificial intelligence allows individuals with modest budgets to access state-of-the-art technology, performing sophisticated analysis that ten years ago would have required significant budgets, manpower, and time to conduct. This enables the creation of natural history studies; identifying approved drugs that might be repurposed to treat a rare disease; and the identification of new biomarkers, targets, and therapies for rare diseases.

Listening to those who have come before
Next-generation advocates use their ears. There are many learnings to take from those who have come before. Next-generation advocates don’t want to waste time. A perfect starting point for them is to reach out to experienced rare disease advocates who understand what it’s like to face a diagnosis for themselves or a loved one for a disease without a name, an organization, or a treatment. There’s no need to reinvent what already works. Finding a mentor who will guide you is the fastest path to progress. It’s essential to learn not just what to do from your mentors but benefit from their mistakes to avoid making them yourself.

Sniff out others with the condition
There is strength in numbers. Next-generation advocates don’t try to do it alone but build a community. It will be essential to find other patients with the same condition to start understanding a rare disease, attract researchers, and ultimately engage drug developers in pursuing the condition. Leveraging the Internet and social media is an excellent way to find others with the same condition around the globe.

It takes a scientist with vision
Newly diagnosed patients aren’t expected to have the wherewithal to develop a research roadmap toward a cure, but they can connect with scientists who can develop and provide that vision. Find a scientist willing to embrace challenges, share a patient advocate’s sense of urgency, and reimagine what is possible.

De-risk research in your disease
Pharmaceutical companies don’t have a strong stomach for risk as rare disease advocates do when developing new therapies. So find ways to de-risk research and eliminate barriers to attracting a biopharmaceutical company to pursue a therapy. Identifying patients, funding preclinical research, and conducting a research-grade natural history can go a long way to achieving this.

Currency is currency
Data may be the new currency, but money still works well. The competition for federal research grants has been well documented. The mean age of the principal investigator getting their first National Institutes of Health Research Project Grant rose to 44 in 2020. While the NIH has sought to address this by introducing grants that target the next generation of researchers, the difficulty many talented researchers face is an opportunity to fund and engage innovative scientists. The challenge most rare disease advocates face is not spending money but raising it. Fundraising is hard work that requires relentless efforts. While some rare disease advocates have the personal wealth to fund research, most have to hustle to raise money. Successful advocates overcome any shyness they may have about making an ask. All it takes is some guts. More adventurous advocates can go the path of venture philanthropy and build a war chest to fund research and provide potential returns to fund future research.

Leverage commonalities with related conditions
Because most rare diseases are genetic, there can be a tendency to look narrowly at only people with the same genotype as having common interests. Despite different underlying genetic causes, many rare diseases share common phenotypes. Given the small population for many rare conditions, there’s increasing recognition of how similar diseases with different genotypes can help elucidate each other and advance research into their own condition. These conditions need to address common obstacles, such as creating natural history studies and developing animal models, and may need to identify biomarkers and outcome measures for use in clinical trials. By collaborating across diseases and sharing resources, tools, and experts, participating organizations can de-risk therapeutic development by working with disorders with similar symptoms.

Become the expert on your disease
Though patients are often deferential to physicians, rare disease patients and their families often have greater knowledge and understanding of a rare disease than the doctors who may treat them. Therefore, next-generation patient advocates must respect their knowledge and help educate physicians about their disease. Despite the lack of formal scientific training, next-generation advocates frequently engage with scientists, read journal articles, and compare notes and observations with other patients and parents to make themselves experts in their disease. Learn to stroke your chin in a contemplative way to help people understand you are an expert in your disease.

Become a citizen scientist
For people not trained in science, becoming immersed in the world of rare disease can seem overwhelming. So much of what may be written about a rare disease might exist in scientific journals that, at first look, can appear to be constructed in an indecipherable language. It may take a little time and a good dictionary to make it through these articles at first, but it will become easier. As you gain an understanding and learn from your own experience and the experience of others, you may begin to see things about your disease that researchers do not recognize. Don’t be afraid to gather and analyze data to help expand the understanding of your disease and help identify key symptoms that could point to potential treatments.

Leverage technology
Rare disease advocates often have to do the heavy lifting without the benefit of a lot of resources. However, technology is changing the face of rare disease from diagnosis to treatment. It is also a leveling force that gives individuals the power to participate in research, enables decentralized clinical trials, and captures patient and caregiver input in new ways that bring a more patient-centric approach to drug development. While the use of artificial intelligence is helping to accelerate drug development, assisting with the diagnosis of rare disease, and moving into the clinic to help guide treatment decisions, at the most fundamental level, technology has allowed people with rare disease to participate in a global community and find others with the same condition, learn from each other, and amplify their voices. Find ways to leverage technology to do more with less.

Change regulators thinking
Drug development takes place in a highly regulated environment. Some of the most significant barriers to advancing treatments from the lab to the patient can be regulatory. For example, regulators may want endpoints used for a study that doesn’t correctly reflect the patient population that can benefit from a drug or reflects what is important to patients in terms of quality of life. Patient advocates can change the thinking of regulators and motivate drug developers and researchers, so they share their feeling of urgency. Sometimes a good swift kick in the right place is all it takes.

Have compassion for those who follow
Rare disease advocates often describe themselves as having a membership in a club they would never have wanted to join. However, for next-generation advocates, regardless of whether their efforts have saved the life of a loved one or they have suffered a heartbreaking loss, their advocacy efforts don’t end. They mentor others, drive organizations forward, and work to ensure others who come behind them have treatments. For these advocates, it is a membership for life.

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