Community Is the Connector in Rare Disease
Laura Wilson, patient strategist at Fingerpaint, recently moderated a panel of rare disease stakeholders who have been impacted by a rare disease, specifically cystic fibrosis. The panel, sponsored and organized by Fingerpaint, featured:
Emily Kramer-Golinkoff of, who faces advanced stages of cystic fibrosis disease. Her incredible work and advocacy have been featured on People.com, Tme.com, CBS’s nationally syndicated television program, The Doctors, The Philadelphia Inquirer, and more, where she has been called “defiantly optimistic and intensely motivated.”
Lauren Spitzer, mom and caregiver of 6-year-old Mickey, who was diagnosed with related metabolic syndrome or atypical cystic fibrosis when he was 4 months old.
Dr. Ray Walsh, who has 30+ years in the pediatric critical care unit at Albany Medical Center and a deep passion for his volunteer work at Double H Ranch, which has given him lots of exposure to families and children living with rare disease. He’s also a professor who educates pre-med students at Siena College on the importance of volunteer work to build connections, and he has a niece who lives with cystic fibrosis and was helpful in navigating the family’s diagnosis.
Stephen Bell, a member of the brand strategy team at Fingerpaint, who was diagnosed with cystic fibrosis when he was 3 months old. He remains active in the cystic fibrosis community through his work with the Boomer Esiason Foundation and Team Boomer.
Below, Laura talks about how the panel impacted her and a few of the important points that stood out from the panel. The entire panel can be viewed on Fingerpaint’s YouTube channel.
I’ve had the privilege of moderating a lot of panels in my career, but this one struck a different chord, first because of the willingness of the panelists to speak openly about how a rare disease has impacted their life; and second because our panelists shared perspectives on the many ways a rare disease can affect a person’s life.
Any disease diagnosis can be quite distressing for a person, and those around them, because they can have life-altering consequences. But a rare disease diagnosis adds an extra layer because of exactly what it implies—it is rare. “A rare disease is defined as a condition that affects fewer than 200,000 people in the US,” according to the National Institutes of Health.
Simply put, that means there are not as many people living with the disease and few healthcare practitioners have a deep understanding of how to treat it and the implications of living with it.
This is where community comes in.
Every one of our panelists cited community as an integral part of their path. While each of them had a slightly different definition of what community meant for them, as you can hear for yourself in these short video [links to videos], each of them stressed that community was an invaluable lifeline that they couldn’t have imagined being without. From employers who help navigate access barriers to a shared experience of the physical toll that raising a child while managing their disease can have, community helped get them through it.
This makes you think: What can we do to not only help individuals and families manage their days, weeks, and years of navigating a rare condition, but how can we support them in reaching their goals beyond managing their disease?
The action of receiving a treatment is only one part of living with a rare disease and can vary depending on the person. In the case of Stephen Bell, enrollment in a clinical trial has led to him being able to live a practically “normal” life as he put it, adding he finally realized he was going to need a 401K because his life expectancy increased.
But for others, like Emily Kramer-Golinkoff, life is very different. She spends countless hours on breathing treatments, injects multiple shots for cystic fibrosis-related diabetes, and takes more than 30 pills in an effort to salvage every ounce of lung function and delay end-stage cystic fibrosis for as long as possible. She has dedicated her life’s work to helping advance possible treatment options and is an outspoken advocate who works closely with life science companies.
When it comes to the treatment of a rare disease, each story is unique even within the same therapeutic area. It is important for us to keep in mind that that a one-size-fits-all solution is not likely to meet the variety of needs for those living with, or caring for, someone with a rare disease.
If I had to pick out one takeaway that I hope everyone walked away with after listening to them speak it is the ripple effect a rare disease diagnosis can have on the person living with the disease and those around them, and the ways that these individuals, along with families, friends, and treatment team members, can come together in response. This is evident when talking about making decisions; things that may seem like simple considerations may have layers of complexity related to the disease. The stories our panelists shared—of their challenges, new-found strengths, and deeply important relationships—demonstrated to me yet again the value of listening as a powerful way to learn.