ORGANIZATION SPOTLIGHT BY COURTNEY WALLER
Rare Disease United Foundation was the solution to a question that seemed to be on everyone’s mind. How do you take 7,000 different diseases and create a cohesive voice for a community of so many millions?
Rare Disease United Foundation (RDUF) started a little over five years ago. Its mission is to address the unmet needs of the rare disease community including raising awareness of rare diseases, reduce diagnosis time, advancing the increased introduction of orphan drugs into the market, reimbursement and other insurance issues, and relieving the isolation felt by those living rare.
With 7,000 known rare diseases and 30 million people affected in the United States, this was no easy venture. Yet, RDUF continues to be a leader in the rare disease space with innovative programs, and much needed legislative initiatives to address the unmet needs of the rare disease community.
Patricia Weltin, founder and CEO, is all too familiar with the struggles rare disease families face daily. Both of her daughters have been diagnosed and are living with rare diseases. It became clear over time that her family’s struggles were the same issues other families were facing, even if the diseases and symptoms seemed worlds apart. Rare Disease United Foundation was the solution to a question that seemed to be on everyone’s mind. How do you take
7,000 different diseases and create a cohesive voice for a community of so many millions?
One solution to that question was to create legislation. Patricia’s team was able to write and champion a bill at the state level in Rhode Island, Connecticut, and North Carolina, which allowed for the creation of a Rare Disease Advisory Council. This body was formed in each state to coordinate resources, address health coverage issues and ensure that state-of-the-art information on rare disease education, treatment and access to care is available to health care providers and patients.
A second project RDUF championed is the Rare Care Collaborative Project, hosted at Brown
University’s Alpert Medical School. Building on the notion that no one is as well versed in their condition as the patient or parent who lives every moment of every day with it, this lecture series presented medical students the opportunity to hear detailed, scientific information about specific rare diseases from parents, patients and
caregivers. Patricia believes the best place to reach the medical community is while they are still learning. While it is almost impossible to teach all 7,000 diseases, this program highlighted an important lesson all future doctors should learn; patients and parents are informed and knowledgeable on the science behind their illness. The hope is that future doctors will walk away with a new found respect for patient input and in the process reduce diagnostic time and develop better ways to treat patients.
Rare Disease United Foundation also began state specific groups on social media to help foster a sense of community for those patients and families who often feel completely isolated. Most rare diseases do not have support groups. For those who do, often times they are miles away, if not located across the country making it very difficult for families to feel supported at home. In these spaces, regardless of diagnosis, patients and families can discuss issues and topics that are specific to their state. They can find referrals from other patients to specialists who may be able to help them with a diagnosis or with whom to discuss treatment options.
While legislation, lectures and family support are sure to lead to better engagement and collaboration between the community and those ultimately responsible for their care, perhaps no project has been as passionately received as RDUF’s latest program. “Beyond the Diagnosis” has been a game-changer in the way rare diseases are viewed by not only the physicians, but also the world beyond the rare disease community. The premise was simple. Engage the art community by inviting several artists to paint and donate portraits of children living with rare diseases. To date, there are 60 different diseases represented. This is a small step towards the ultimate goal, which as Patricia states, is to, “put a face to all 7,000 rare diseases.”
As daunting as that task may seem, it is a mission that has been embraced by artists from all over the world, including master artists such as Wolfgang Widmoser, (who studied under Dali), and Jota Leal. The medical community has embraced the concept as well. The acclaimed exhibit has been shown at the National Institutes for Health, Harvard Medical, Brown University Medical, and Broad Institute. In 2017, Beyond the Diagnosis will visit the FDA, as well as a return to NIH and the Broad Institute, with more requests received every day.
While the marriage of medicine and art may seem an odd coupling, art has been used for centuries to convey a message or offer a glimpse into the human soul. “Beyond the Diagnosis” is accomplishing this goal. It is nearly impossible to look at the portraits and not see these children as real people striving to overcome real obstacles and not merely a diagnosis written about in an obscure medical journal. “You can’t look at these portraits and not be moved,” Weltin is fond of saying. She is right. That sentiment was echoed by Lucas Kolasa, one of the exhibit artists and its current curator, on CBS Sunday Morning with Charles Osgood, “Maybe someone will look at this and be inspired to maybe find a cure. That would be amazing.”
Looking through the catalogue of portraits, it isn’t always easy to see the severity of the diseases featured. There are children like Brenna, who suffers from harlequin-type ichthyosis, which affects the skin and disrupts its ability to act as a natural barrier between the body and its environment. Children with this condition need intensive medical support to survive into childhood and adolescence. There are brothers, Austin and Max, who were diagnosed
with Duchenne muscular dystrophy. Austin is in a wheelchair, while his brother remains on his feet due to an experimental drug therapy. Then, there are children who show no outward symptoms of their disorder, like Theodora, diagnosed with Timothy syndrome at birth. While Timothy syndrome affects every system of her body, giving her a life expectancy of only three years and a cause of death most likely to be sudden cardiac arrest, she appears completely healthy to the outside world.
This is exactly the reason this program is so powerful. It allows us to see that the faces of rare disease are not always easy to recognize, but they are in desperate need of treatments and cures that, for many, simply do not exist. There are nearly 15 million children diagnosed with a rare disease, a classification reserved for diseases with a patient population of less than 200,000 in the United States. Many of these diseases are considered ‘ultra-rare’ and have patient populations that number only in the hundreds world-wide. Out of those 15 million, approximately 30 percent will not live long enough to attend kindergarten. Rare disease affects more people than cancer and AIDS combined. Yet, they are some of the least talked about segment of the population. “Beyond the Diagnosis” aims to change that by calling attention to this collective global health crisis.
The exhibit is not a fundraising tool. It is funded entirely by grants and patron donations. Rather, it is an educational tool and conversation starter. The families involved are grateful that so many in the medical community have taken an interest in the exhibit and their children. As a rare disease parent, Weltin knows firsthand what it is like to be ignored. With the average time it takes to receive a diagnosis reported as eight years, so do a lot of other families. It is time most of these patients simply do not have.
For most families in the exhibit, these conversations cannot begin soon enough. For some of the families, the meaning of the exhibit goes much deeper. “To know that my child, a child I will most likely lose, is forever immortalized on canvas is a comfort. To know that she is part of something so important, though she may not be able to walk or talk yet, is such an immense feeling,” one mother says. That is the real beauty in “Beyond the Diagnosis.” It has given a feeling of power to families that may otherwise feel powerless in a reality that is full of doctor’s appointments, surgeries, medication schedules, insurance paperwork and the issues facing their children that they cannot always fix.
As “Beyond the Diagnosis” is traveling the country and abroad, the conversations it starts will engage researchers, physicians of all disciplines, and other industry stakeholders in a meaningful odyssey to aid the entire community in having their needs understood and met. This is the first and perhaps the most crucial step in the ultimate goal; treatments and cures. As more and more educational and medical institutions request to house the exhibit, it can only mean good things. Some institutions have even chosen to include the exhibit in the learning process, by having their communities choose portraits and diseases to present to their colleagues. This engagement takes the conversation from the art itself to a more clinical and practical setting towards that goal.
Rare Disease United Foundation is an ever evolving organization. It has continued to set the bar high when it comes to striving to meet the unmet needs of a rather large community of patients.
Through their first-of-its-kind legislation, creating a state-based community, bringing patient knowledge to the attention of the medical community and finally “Beyond the Diagnosis,” they continue to set themselves apart as an organization who believes in the power of collaboration and of the patient.
They believe that this community is more than just numbers and statistics. They are people struggling with the unimaginable. They need a voice, and Rare Disease United Foundation has consistently shown that they are able to be that united voice for a movement that has the power to change the way rare diseases are viewed •
ABOUT THE AUTHOR:
Courtney Waller is a Volunteer Director with the Wisconsin Rare Disease Community.