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Submit a Suggestion February 28, 2024 Communicating About Rare Diseases By Joni L. Rutter, Ph.D., Director, NIH’s National Center for Advancing Translational Sciences Joni L. Rutter, Ph.D. Director, National Center for Advancing Translational Sciences
 The rare diseases community represents millions of people, and communicating about rare diseases research can make a real difference. It gives patients and their families a sense of the new advances that are here or coming. It keeps researchers informed of cutting-edge approaches and can lead to productive collaborations. It offers powerful stories that advocates and others can use to promote the need for policy changes and continued funding for treatments and cures. More than 10,000 rare diseases affect nearly 30 million people in the United States. When you add up all the related direct and indirect costs, rare diseases carry a U.S. economic burden of nearly $1 trillion every year. What’s even starker is that burden is likely larger because many rare diseases are essentially invisible in our health care system. I’m more than aware of the impact rare diseases can have. My mother, Dorothy, had a rare disease called primary myelofibrosis, a condition characterized by the buildup of scar tissue in the bone marrow that ultimately stops the body’s ability to make blood cells. Her 15-year journey to diagnosis ended only to see the beginning of another one: finding treatments. But there were none for her disease. Clinical trial options eventually became available, but they required her to travel 800 miles away from her rural Kansas home. My mom’s story is not unique. Those with rare diseases struggle for about six years on average before they receive an accurate diagnosis. Unfortunately, only about 5% of rare diseases have treatments that are approved by the U.S. Food and Drug Administration. I believe right now is an important turning point for rare diseases. There has been tremendous progress in rare diseases research and treatment development. Just last year, a medication for primary myelofibrosis was approved. Although it was too late for my mom, there is hope for others with a similar disease. Much more progress is on the horizon. Exciting areas include the use of data-driven approaches like machine learning to diagnose rare diseases sooner, and new therapeutic development approaches that build upon the understanding that about 80% of rare diseases are caused by single gene mutations. NIH is investing heavily in this research. In the cancer field, the term “cancers” became an umbrella term for all cancers, and this approach led to nationwide research and advocacy programs that are bringing hope to all impacted by a cancer diagnosis. NIH is taking a similar approach for rare diseases—that is, individually they are rare, but collectively they are common. By studying what is common across rare diseases, we can maximize research approaches for more than one disease at a time. So how can you help? Here are three tips to keep in mind when you’re communicating about rare diseases research. **Tailor your story for who will be most interested in it.** The rare diseases community is broad. It includes researchers, advocacy groups, federal agencies, policymakers, patients and their caregivers, parents who started companies or advocacy organizations to help their children living with a rare disease, and other companies and investors. Researchers are most interested in important scientific advances. Federal agencies and industry want to know about new technologies or approaches that could work for many diseases. Clinical trial findings and drug approvals grab the attention of policymakers as well as patients, caregivers and advocacy organizations affected by those diseases or similar diseases. Stories about rare diseases research can attract interest from pharmaceutical companies and investment firms. Broader audiences also could be interested in these stories because a better understanding of rare diseases can offer insights into the biology of common diseases, such as cancer and Parkinson’s disease. **Put the research in context****, so your audience better understands how it fits into the bigger picture.**It can take a long time for a promising finding in the lab to ever make it to the medicine cabinet. Odds are it never will—9 out of 10 potential treatments fail in clinical trials. When you’re communicating about rare diseases, you may need to educate your audiences about the drug discovery and development process, especially what the promise of the finding actually is at this stage. It’s also important to avoid using misleading headlines. In addition, stories of progress can show the process unfolding in real-time and can convey that there is still a lot left to do. **Include the patient perspective.**Stories that capture the voice of people directly impacted by a rare disease can be incredibly compelling. In another post I recently wrote, I shared drawings made by a young girl with a rare disease before and after treatment as a way to demonstrate the impact of an NIH-funded research tool. Finding people to share their stories can require some effort and, when you do, you must be sensitive to their needs and availability. Below are some resources to help you tell stories of rare disease progress. One of the best places to discover helpful resources, learn about the latest research, and hear personal stories is Rare Disease Day at NIH. The goal of Rare Disease Day is to raise awareness about rare diseases and their impact on our society. Rare Disease Day always occurs on the last day of February. This year, it falls on the rarest day – Feb. 29. Helpful Resources on Rare Diseases and Research ***Advocacy organizations*** for individual rare diseases as well as those representing groups of rare diseases (e.g., Global Genes, EveryLife Foundation, National Organization for Rare Disorders) offer information about the diseases, current research, and challenges. They can be a potential source for identifying people with rare diseases. ***Federal agencies***, including NIH and the U.S. Food and Drug Administration, offer educational resources and disease information (e.g., NIH's Genetic and Rare Diseases Information Center) and highlight research priorities and explain drug development processes (e.g., NCATS Toolkit for Patient-Focused Therapy Development). ***Scientific organizations*** offer resources to learn about research and drug development approaches in a less technical way (e.g., American Society of Gene + Cell Therapy’s *Gene & Cell Therapy 101*).
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