Thoughts from the Front Lines of Rare Disease Research
Posted on by Dr. Francis Collins
There are nearly 7,000 rare diseases, some of which affect just a few dozen people. Yet, if one considers all these conditions together, about 30 million people in the United States have rare diseases. On this Rare Disease Day, I’d like to challenge each of you to think about how we can raise the visibility of individuals living with rare diseases, as well as the researchers working hard to help them.
I’d like to introduce you to Harper Spero, who is using her rare gift of storytelling to share the experiences of people with a wide variety of conditions that she likes to call “invisible illnesses.” Through her podcast series, called Made Visible, this 34-year-old New York City native is among the many people helping to spread the word that rare diseases are not rare.
Spero knows what it’s like to live with a rare disease. Shortly after she was born, it became clear that she was unusually prone to infections. But doctors had a hard time figuring out what exactly was wrong with this little girl. Finally, at the age of 10, Spero was diagnosed with Hyper-Immunoglobulin E Syndrome (HIES), also known as Job’s syndrome. There currently is no cure for this rare genetic disease, which impairs the immune system and affects multiple parts of the body. But Spero is determined to live a normal life despite her chronic “invisible illness.”
Spero also knows what it’s like to take part in biomedical research. Seven years ago, she came to the NIH Clinical Center here in Bethesda, MD, seeking help for a large cyst in her right lung. It marked the beginning of a positive partnership with a Job’s syndrome research team led by two of NIH’s many dedicated physician-scientists, Alexandra Freeman and Steven Holland. Not only did the NIH researchers work with Spero to figure out the best ways of managing her symptoms, they are using what they’ve learned from her and about 175 other Job’s syndrome patients to develop approaches for earlier diagnosis and interventions. Spero, who visits the Clinical Center annually and communicates with the NIH team on a weekly basis, has been so inspired by the experience that she even chose to feature Dr. Freeman in one of her recent podcasts.
Unlike Spero, I don’t have a podcast—at least not yet. But I do have a blog, and Spero was kind enough to respond to a few of my questions on rare diseases and medical research. So, I’m sharing her thoughts below—I hope you are inspired by them as much as I was!
Why do you feel it is important for people with rare diseases to take part in medical research?
Without research, we can’t make any improvements, changes or find cures. Participating in medical research allows researchers and doctors to learn about the trends (or lack of) between patients, and determine what’s working and what’s not.
What have your own experiences been with the health-care system and medical research?
When I was younger, I really didn’t want to be a specimen. I was going through so much trying to find answers and treatments for myself that it was hard to think about how it would help other patients down the road to be sharing my experiences. I didn’t want to add another doctor’s visit to my schedule. After coming to NIH in 2012, I recognized the importance of being part of the research because it could essentially help me, other patients and for early detection of rare diseases. I recognize that the medical researchers are often much more compassionate than many doctors who simply treat symptoms. Researchers are curious and genuinely care to understand you and your story.
Your podcast is fantastic. How has it affected you to hear and share the stories of so many people affected by rare diseases?
I was definitely aware how many people were living with rare diseases, but I was surprised by how many people were willing to share their stories on my show and how many people wanted to listen to these stories. I hadn’t heard stories being shared in this way around this topic and I wanted to be the one who brought them to life. Many of my guests haven’t publicly (let alone with friends or family) shared their stories so I’m honored that they’re willing to do it with me. They see how important it is to have these conversations and to educate people on what it’s like to have an invisible illness.
What would you tell someone who’s just learned he or she has a rare disease?
You don’t have to do this alone! Find a team of medical professionals you trust to support you. I spent most of my life without a team of doctors that I loved and truly understood me, and now I can’t imagine my life without my team at NIH. Also, talk to your loved ones—let them know what you’re feeling and discuss how they can support you. This is likely new for them too and there’s no right way of navigating and managing a rare disease.
What would you tell a young person who’s considering becoming a rare disease researcher?
Thank you for your interest in doing this! We need more compassionate, curious and passionate people doing this work and investing their time to learn more and help find answers for rare diseases. Please treat us with respect and care.
If you could change one thing in the medical care/research of rare disease, what would it be? And what about in society in general?
There’s a way to do your job without treating patients like guinea pigs. We’re humans too, and we’re humans who have likely been through the wringer in the medical world. Be kind to us. Treat us the way you’d like to be treated. Compassion seems to be a word I’m using a lot. I think society can be more compassionate towards one another especially around rare disease. You can never fully understand what someone is going through so ask questions, show you care and treat people with kindness.
What are your hopes for the future?
I’d love there to be more answers and solutions for navigating a rare disease. A lot of the treatments I do are based on trial-and-error. What works for one patient definitely doesn’t always work for me. So, we’re constantly trying to navigate what works best for me. I’d love to see a cure to be found for Hyper IgE/Job’s Syndrome, as well as other rare diseases.
Podcast Series: Made Visible
NIH Patient Shares Stories of ‘Invisible Illness,’ The NIH Record, February 8, 2019
Hyper-Immunoglobulin E Syndrome (HIES) (National Institute of Allergy and Infectious Diseases/NIH)
Rare Disease Day at NIH 2019 (National Center for Advancing Translational Sciences/NIH)
Rare Diseases Are Not Rare! Challenge Offers New Tools to Raise Awareness. January 2019 (NCATS)
Video: Rare Disease Patient Profiles (NCATS)
Genetic and Rare Diseases Information Center (NCATS)
Undiagnosed Diseases Network (Common Fund/NIH)
Video: One in a Million (Undiagnosed Diseases Network, University of Utah Health, Salt Lake City)
Rare diseases are growing in the world.
Research is a must to find the real epidemics
Rare genitourinary anomalies are usually a hidden anomalies which were not fully recognised by the general practioners and may lead to serious organic and psychic sequelae.
“There’s a way to do your job without treating patients like guinea pigs.” Nor should researchers treat guinea pigs like test tubes.
I really appreciate this article. There is a great need for research in rare diseases, particularly on rare tumors …
Sir, I was really awaiting for that news and I always expect some more information from you. Thanks
What struck me in this Q/A session was Ms. Spero’s comment that physicians should remember to treat patients as they wish to be treated. It’s a refinement of the Golden Rule, an adaptation if you will, of the Golden Rule to medicine. It will be 27 years this spring that I was diagnosed with uterine and ovarian cancers occurring simultaneously. Something, I understand, that usually doesn’t happen but it’s not really a rare disease. However, I had the medical expertise, moral support, friendship and sincere caring of a family physician, gynecologist and gynecologic oncologist that meant so much at the time and through the years. I can only dimly imagine what it’s like for a patient with a rare disease not to have such a medical team. Bless my physicians and all physicians who practice medicine in this way!
Research is so important for mankind.
I didn’t see any follow up for my previously raised suggestion to create a section for the rare genitourinary anomalies, which are usually overlooked.
Research should be prioritized in the first place. When virus like Covid 19 came, at least we are prepared.