Millions of families fight rare diseases every year.
Sanford Health is helping them fight.
What makes a disease rare?
Dr. David Pearce is the president of Sanford Research. When he arrived at Sanford Health, he said he was “given the keys” to build a research program. With a background in children’s disease, he was compelled to help families battling a rare disease diagnosis.
If someone is diagnosed with a condition that 200,000 patients or fewer are diagnosed with, it’s considered rare. Currently, there’s over 10,000 rare diseases globally.
No disease diagnosis is ever easy. A rare disease diagnosis can put an added strain on patients though, because so little is known about the disease. In fact, Dr. Pearce said there’s no known treatments for these diseases, only treatments for their symptoms. Finding the right treatment can be a task in of itself, because patients may have a heftier number of medical records to keep organized.
Making a rare disease registry
It’s understandable many patients and families feel overwhelmed. CoRDS, which stands for Coordination of Rare Diseases at Sanford, was created to ease the burden.
“For example, (if) there’s 200 children in the United States with (a rare disease), there’s not one singular physician that cares for those children. You basically have to be able to either go to them or bring them to a certain place annually and do assessments and really track the disease.
“If I lined up 200 children that were healthy, would they all be the same? No. So, if you have a rare disease, those 200 children are all going to be different as well. We need to understand that,” said Dr. Pearce.
Essentially, CoRDS is an international patient registry that collects data from questionnaires participants complete. Additionally, participants can upload medical records.
“So, the Coordination of Rare Diseases at Sanford is this: let’s get every individual with a rare disease in a database so we can track them and understand the consequences of these diseases,” he said.
When Dr. Pearce created CoRDS, he had fighting all these diseases in mind.
“How can you pick another one or two diseases when there’s thousands in the world that need attention? I’m known for having big ideas, so I said, ‘Let’s do them all. Let’s try and make an impact on every rare disease we possibly can.’ That’s what we’re striving to do. We have more than 2,100 rare diseases in the database. We’re gathering contacting information, we’re gathering natural history data, so we can make that impact,” Dr. Pearce said.
Playing matchmaker
Sanford Research specialist Polly Gill said CoRDS pairs patients enrolled in the registry with researchers who may be able to help them.
“We link researchers together, and we could have clinical trials that are available for them, or they just collect data to find trends in a rare disease,” said Gill.
As you might’ve predicted, many rare diseases are severe. However, others can be mild. A milder rare disease doesn’t mean exclusion from the CoRDS registry.
“We have people in our registry who have all, any kind of rare disease. We have people who are undiagnosed and still trying to find an answer as to what they have. (Then) unaffected carriers as well. So, people who carry that gene who don’t actually show symptoms. They’re all welcome in our registry,” she said.
A free, patient-led registry
Benjamin Forred, director of CoRDS, said the registry has two foundational principles that will never change. One, it’s free. Sanford Health will never charge patient advocacy groups, researchers, or anyone to access the data. Second, patients themselves solely own their data.
“We’re never going to say we are in control of all of those things. The patients have toggles, and they can choose who the data gets shared with, when and how, and whether or not we reach out to them for future opportunities to collect biospecimens or participate in clinical trials,” Forred said.
Other than the overall nature of the registry, being free of charge and patient-led makes CoRDS unique. Another aspect that sets CoRDS apart is its physical location, according to Forred.
“It’s also unique that it’s in Sioux Falls, South Dakota. We’re kind of a hidden gem out here in the Great Plains. We have a research infrastructure that is growing and building to focus on rare conditions. We have 30 different laboratories. Out of those faculty members, about half of them have at least one project that focuses on a condition that’s rare.
“We have rare disease animal models, rare disease patient cell lines, all of those sorts of things. CoRDS is an extension of those activities – a recognition that researchers, we should be doing something to build a data resources as well to help steer the ship,” he said.
CoRDS also serves as a reminder to patients that despite the rare disease diagnosis, they themselves are not rare, or alone.
“The news is unsettling. It’s scary. You feel lonely. Even though you feel alone, you’re not alone, and I’m not here to just help you build a registry. Neither is Dr. Pearce, or anyone at Sanford Research. We’re here to make connections,” Forred said.
Rare diseases hit close to home
In the interview with Sanford Health News, it quickly became clear Forred has a passion for rare diseases. Part of his fire stems from the fact that rare diseases are personal to Forred.
“I have an aunt who passed away from a rare disease. My best friend Matt died from a rare cancer. My mom has a rare dermatological disorder. Three different rare conditions that I have in my own life. I use this as an example because any one of us could probably think pretty hard and know there’s a rare disease patient in their life,” he said.
Community is critical for anyone in the midst of a rare disease. Which is why Rare Disease Day, a day dedicated to support awareness for rare diseases, is so important.
Community members and business owners in Sioux Falls are showing their support on February 28th, technically the 29th, the rarest day on the calendar.
The Arc of Dreams, an 85-foot-tall sculpture in downtown Sioux Falls hanging over the Big Sioux River, will be lit up with the rare disease colors of green, pink, blue and purple. Additionally, local cupcakery Oh My Cupcakes will once again be releasing a rare disease day themed cupcake.
Learn more
- Rare disease registry: Giving hope and impacting research
- Netflix ‘Diagnosis’ family searches for rare disease clues
- Rare-disease patient is a regular at Sanford and Fairview
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Posted In Children's, Research, Sioux Falls
