A disease is considered rare when it affects fewer than 200,000 people. Yet, 1 in 20 individuals will experience a rare disease in their lifetime. Many who have a rare disease often go undiagnosed or misdiagnosed for years, sometimes even decades. And when individuals do finally receive a proper diagnosis, it can be difficult to know where to turn to when it comes to disease education, navigating medical care, or finding support.
That’s where patient leaders make all the difference. They share the latest resources and information about their condition. They work with organizations to raise awareness and move research forward. They pass along the wisdom they’ve gained from years of lived experience. And they work to foster patient communities — answering 100s of DMs a week, leading support groups, or simply sharing their story so that others feel less alone.
These individuals are truly on a mission to better every stage of the patient journey.
In honor of World Rare Disease Day 2021, WEGO Health wants to shine the spotlight on rare disease patient leaders who are making a profound impact on the lives of other patients. Because while it’s important to raise awareness for the 7,000+ known rare diseases, it’s equally as important to know the people who are actually living with them.
Here are 9 patient leaders you should get to know:
Thomas, Multiple Myeloma (MM) Patient Leader
It took Thomas eight months to receive an official multiple myeloma diagnosis. Over the course of his 15-year journey, he’s received three stem cell transplants and participated in multiple clinical trials. While he relapsed again this year, he continues to be a pillar of hope for other MM patients — leading support groups and sharing his story far and wide via social media, publications, and even a documentary.
He wants everyone in the MM community to know that, “It’s OK to go through the phases of hearing about being diagnosed with multiple myeloma. Remember to live your life to the fullest and cherish each day.”
Follow Thomas on Instagram.
Ruchi, Eosinophilic Esophagitis (EOE) Patient Leader
By trade, Ruchi is a speech pathologist working in a hospital to help other patients communicate, eat and swallow safely. When she’s not at work, you’ll find her infusing creativity with cooking in the kitchen and capturing her recipes and adventures on her blog. This past summer, Ruchi was diagnosed with EOE and is now using her platform to help other patients accept and live a full life (and still enjoy good foods!) despite a diagnosis.
Here’s what Ruchi wants those who are newly diagnosed with EOE to know: “You are not alone! Thanks to the internet, it’s more possible than ever to find forums and communities of people going through what you are. Find a doctor who has a lot of experience with your disease, listens to you, and makes you feel heard and understood — it’s OK to shop around for the right one, to ask questions, and to advocate for yourself and what you want!”
Follow Ruchi on Instagram.
Nancy, Fibrodysplasia Ossificans Progressiva (FOP) Patient Leader
Nancy was diagnosed with FOP at age 5, and didn’t know anyone else with FOP until she became friends with Jeannie Peeper in her 20s. Their conversations led them to realize the need for a group “so others with FOP didn’t have to be isolated, and to allow us to share ideas, hopes, and dreams.”
Nancy is one of the founding members of the International Fibrodysplasia Association (IFOPA) which was incorporated in 1988. She continues to provide support and share her extensive knowledge of how to cope and adjust to everyday FOP-related challenges. She currently lives in Northern Michigan with her furry housemate, Ollie.
Nancy says, “My hope for our community is that we can continue to learn, encourage, and inspire one another to the best of our abilities.”
Follow Nancy’s organization, IFOPA, on Instagram.
Morgan, Myasthenia Gravis (MG) Patient Leader
Morgan never would have guessed she’d be living with a rare autoimmune disease (especially one with the same initials as her own name!). She’s almost five years post-diagnosis, and using her voice to advocate for herself and her community via her brand,Is Was Will Be.
Her mission is to be the person she needed when she was told her life would never be the same, and to help the next person diagnosed in their journey. She says, “The next generation will know there is someone else out there like them, who has or is going through the same things and is living a full life. No matter what the illness is, you are not alone. We are rare but we are real, and you too can ‘live your illest life.’”
Follow Morgan on Instagram.
Joe, Amyloidosis Patient Leader
January 2021 marks the one year anniversary of Joe’s stem cell transplant. A high school math teacher by trade, he takes “five minutes a day” to educate others about his experiences.
Joe wants both patients and healthcare to learn from his challenging journey, aiming to inform others about a full-picture approach to health — including adequate treatment, exercise, and a strong support system.
His hope for Rare Disease Day is, as he says, “Promoting the awareness and advocacy for a host of diseases that require broader understanding, research, funding, and education. As an amyloidosis patient in remission after a stem cell transplant, I am keenly aware of such needs.”
Follow Joe on the WEGO Health platform.
Ashley, Neuroendocrine Cancer Patient Leader
Ashley is grateful for the PCP that led her to a neuroendocrine cancer diagnosis in 2016. As she connected with more patients living with the condition, she realized that having a medical care team who’s willing to dig for answers isn’t a common experience.
Five years later, Ashley continues to share her story, raise awareness, and support her community to help others on their own neuroendocrine cancer journey.
Her advice for a person recently diagnosed with neuroendocrine cancer: “Get a specialist. Your local oncologist is great for maintenance care, but you really need a specialist to develop your treatment plan. Be prepared to travel, most of us aren’t lucky enough to have one in the place we live. Listen to your body and know when to slow down; just because you don’t look sick, doesn’t mean you won’t feel it.”
Follow Ashley on Instagram.
Sean Albright, Porphyria Patient Leader
Sean was diagnosed with porphyria in 2009, with no real knowledge about the condition. Once he learned more, Sean set out to spread awareness in ways that felt more approachable to younger patients like himself. His advocacy work includes being a member of the American Porphyria Foundation as well as using his passion for professional race car driving to raise funds for research.
Sean is now in his 30s, and while he still deals with porphyria symptoms on a regular basis, his journey has made him realize he’s not alone — support is out there. He says, “The best advice I can give anyone who has or knows someone with porphyria is to simply take it day by day and have someone to support you. This condition doesn’t mean you have to give up on your dreams.”
Follow Shawn on Twitter.
Marley, Septo Optic Dysphasia Patient Leader
Marley is an 8-year-old boy living with septo optic dysphasia, cerebral palsy, autism, growth hormone deficiency, and the biggest smile! His parents are not only his biggest advocate, but advocates for others who are living with or taking care of someone with a rare disease.
Marley’s mom says, “There is no greater joy than advocating for your special child and watching them create miracles.”
The family chronicles Marley’s journey on social media with the aim of raising awareness and fostering understanding. They have found music therapy to be a great asset in Marley’s overall care, and share their love of catchy tunes with others who may be interested in incorporating this type of therapy into their own or loved one’s care plan.
Follow Marley and his family on on Instagram.
Erick, Acromegaly Patient Leader
Erick was backpacking through Thailand in 2018 when he suffered from a stroke. That same week, he received a diagnosis of a brain tumor as well as Acromegaly and he’s since undergone both heart and brain surgery. Yet Erick’s spirit still persists and he uses his story to remind others to live to the fullest and make time for the things that bring you joy – which for him, means lots of fishing.
He shares, “Being diagnosed with Acromegaly doesn’t mean giving up on your dreams. Remember that you are more than just your chronic illness.”
Follow Erick on Instagram.
To celebrate World Rare Disease Day, WEGO Health sat down with top rare disease patient leaders to discuss the importance of resiliency, managing your own care, story sharing, and raising awareness to support the rare disease community. Watch the replay now!
In honor of World Rare Disease Day, WEGO Health partnered with the national, award-winning morning show, The Balancing Act, to produce “Rare at Heart, What Makes Us Tick.” The special featured WEGO Health patient leaders William Yank, a 3-time Leukemia survivor, TedX speaker, and WEGO Health Awards finalist with his own podcast, clothing line, over 90,000 followers on TikTok; Kelly Barendt, a Friedreich’s Ataxia patient influencer, blogger, and YouTuber with over 300,000 TikTok followers; and Travis Flores, a cystic fibrosis warrior, three-time lung transplant survivor, activist, philanthropist, motivational speaker, actor, and children’s book author.
Missed the live premiere? Stream the episode now!
Rare Patient Voice connects you with researchers who are developing products and services that have the potential to support your communities’ needs. As a patient leader, you have the opportunity to share your valuable insights and feedback to ensure products made for patients, are built with patients in mind! For every study you participate in, you’ll earn $100 per hour. Interested in participating? Click here and you’ll earn a $5 gift card just for signing up.