Rare Disease Day to raise awareness
Carolyn Hutyra | Thursday, February 12, 2015
The third annual Rare Disease Day Celebration, organized by the Boler-Parseghian Center for Rare and Neglected Diseases, will take place this upcoming weekend.
Outreach coordinator Barb Calhoun and director of external programs Shahir Rizk, who both helped organize the celebration, said the event consists of a research symposium to be held in DeBartolo Hall on Friday and a community discussion to be held in McKenna Hall on Saturday.
“[Rare diseases] are everywhere, and I think this is something that we wanted to emphasize and bring the community in on and be able to have everyone tell their side of the story, patients and their families living with the disease,” Rizk said.
Organizers focused on recruiting a wide spectrum of attendees, which Rizk said included physicians, healthcare providers, patient services organizations and foundations and insurance company representatives.
“Each one has a very unique perspective on rare diseases and what the challenges are that they see,” he said. “Doctors need more information, patients want faster diagnoses, better access to drugs and more research, and researchers want more patients and more information and more collaborations.”
The events aims to bring the community together, Rizk said, to allow patients, families and everyone involved to come together and share their unique perspectives.
“A lot of researchers at Notre Dame work on rare diseases,” he said. “This is a big focus, and it really comes from the Catholic mission of the University of helping those that are in need or that maybe have been marginalized by the medical industry or the pharmaceutical industry.”
Although there are roughly 7,000 rare diseases, Rizk said they affect approximately 30 million Americans, which translates statistically to about one in ten people.
“Each rare diseases poses its own different challenge and it takes on a different toll, but the main challenge is the diagnosis because a lot of doctors have not seen these diseases before,” he said.
It is critical for all of those involved to learn from one another and celebrate everyone’s point of view, Rizk said. This is achieved through the use of open forums and panel discussions dedicated to different themes, such as sibling relations.
“We actually will have a presentation from a rare disease patient that is a student here at Notre Dame,” Calhoun said. “Along with that, we will then engage siblings who have brothers or sisters that have a rare disease, and share their experiences and engage in conversations about some of their ideas of caregiving.”
This undergraduate participation is just one example of all the work Notre Dame students have dedicated to making Rare Disease Day a success, Rizk said.
“They’re also involved in developing a database for rare disease patients because there’s a huge need for medical information on rare disease patients,” he said. “There are usually just a handful, and we just want to see what’s common, what’s uncommon.”
The data collection for the data is currently taking place regionally with plans to eventually expand nationally, Rizk said, adding that student involvement reaches a more personal level as well.
“They’re also involved in telling their own stories and their experiences with rare diseases, whether it would be their own or a sibling or a family member,” he said.
Kasturi Haldar, director of the Center for Rare & Neglected Diseases, created the celebration, which originally began in 2010 as a meal for students in a biology course. Although the event was originally closed to the public, faculty involvement and activity expansion grew until it was decided to make the event open to students and the community at large.
“Over the years, it’s really attracted patient families across the Midwest,” Haldar said.
With approximately 80 to 100 attendees at each event, Calhoun said people are travelling from as far as Pennsylvania and Seattle to attend the meeting this year.
“It’s a great platform for our students to interact with the broader rare disease community,” Haldar said. “You really don’t learn about the diseases as well as if you directly interact with patients, and rare disease patients are usually very willing to bring awareness to the rare diseases that they suffer from because they effect a small number of people … and they’re not really well known or understood.”
Online registration for the Rare Disease Day Celebration ends Thursday, but Calhoun said walk-ins are also welcome to attend the event.