Rare, but not alone: ​​CoRDS brings together patients with rare diseases

Every year, millions of families struggle with rare diseases.

Sanford Health is helping them fight.

What makes a disease rare?

Dr. David Pierce is President of Sanford Research. When he arrived at Sanford Health, he said he was “given the keys” to start a research program. With a background in childhood illnesses, he was forced to help families struggling with a diagnosis of a rare disease.

If someone is diagnosed with a disease that is diagnosed in 200,000 or fewer patients, it is considered rare. There are currently over 10,000 rare diseases in the world.

Diagnosis of any disease is never easy. The diagnosis of a rare disease can create additional stress for patients because very little is known about the disease. In fact, Dr. Pierce said that there are no known cures for these diseases, only treatments for their symptoms. Finding the right treatment can be a challenge in itself because patients may have a large number of medical records to organize.

Creation of a rare disease registry

Understandably, many patients and their families feel overwhelmed. CoRDS, which stands for Sanford Rare Disease Coordination, was created to alleviate this burden.

“For example, (if) there are 200 children in the United States with a (rare disease), there is not a single doctor who takes care of these children. Essentially, you should be able to either go to them or bring them to a specific location annually, do assessments, and really track the disease.

“If I line up 200 healthy children, will they all be the same? No. So if you have a rare disease, these 200 children will also be different. We need to understand this,” said Dr. Pierce.

In essence, CoRDS is an international patient registry that collects data from questionnaires filled out by participants. In addition, members can upload medical records.

“So the coordination of rare diseases at Sanford is this: let’s put every person with a rare disease into a database so we can track them and understand the implications of those diseases,” he said.

When Dr. Pierce created CoRDS, he had in mind the fight against all these diseases.

“How can you choose one or two more diseases when there are thousands of them in the world that require attention? I’m known for my big ideas, so I said, “Let’s do them all. Let’s try to influence every rare disease we can.” This is what we strive to do. We have more than 2100 rare diseases in our database. We collect contact information, we collect natural history data so that we can make an impact,” said Dr. Pierce.

matchmaker game

Sanford Research specialist Polly Gill said CoRDS connects patients on the registry with researchers who can help them.

“We’re linking researchers together and we might have clinical trials available to them, or they’re just gathering data to find trends in a rare disease,” Gill said.

As you might have guessed, many rare diseases are severe. However, others may be mild. A milder rare disease does not mean exclusion from the CoRDS registry.

“We have people on the registry who have all kinds of rare diseases. We have people who have not been diagnosed and are still trying to figure out what they have. (Then) unaffected media. So, people who carry this gene who don’t actually have symptoms. They are all welcome on our roster,” she said.

Free patient-led registry

Benjamin Forred, director of CoRDS, said the registry has two fundamental principles that will never change. First, it’s free. Sanford Health will never charge patient advocacy groups, investigators, or anyone else for access to data. Second, the patients themselves own their data.

“We are never going to say that we control all these things. Patients have switches and can choose who they share data with, when and how, and whether we approach them for future opportunities to collect biosamples or participate in clinical trials,” Forred said.

In addition to the general nature of the registry, its free and patient-driven nature makes CoRDS unique. Another aspect that sets CoRDS apart from others is its physical location, according to Forred.

“It’s also unique that it’s in Sioux Falls, South Dakota. We are a kind of hidden gem here on the Great Plains. We have a research infrastructure that is growing and building to focus on rare conditions. We have 30 different laboratories. Of these professors, about half have at least one rare disease project.

Save date: 13th Annual Rare Diseases Summit of the Great Plains

“We have animal models with rare diseases, cell lines of patients with rare diseases, and so on. CoRDS is a continuation of this activity – a recognition that researchers have to do something to create data resources, as well as to help manage the ship,” he said.

CoRDS also serves as a reminder to patients that despite being diagnosed with a rare disease, they themselves are not rare or alone.

“The news is disturbing. This is scary. You feel alone. Even if you feel alone, you are not alone, and I am not here just to help you build a registry. Not Dr. Pierce, not anyone from Sanford Research. We’re here to make connections,” Forred said.

Rare diseases struck close to home

In an interview with Sanford Health News, it quickly became clear that Forred was into rare diseases. Part of his fire comes 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 of a rare cancer. My mother has a rare dermatological disease. Three different rare conditions that I have in my life. I’m using this as an example because any of us could probably think hard and find out that there is a patient with a rare disease in his life, ”he said.

The community is critical for any person suffering from a rare disease. That’s why Rare Disease Day, dedicated to raising awareness of rare diseases, is so important.

Community members and business owners in Sioux Falls show their support on February 28, technically the 29th, the rarest day on the calendar.

The 85-foot tall “Dream Arch” sculpture in downtown Sioux Falls, overlooking the Big Sioux River, will be illuminated with the rare colors of disease: green, pink, blue and purple. In addition, Oh My Cupcakes, a local bakery, will once again be releasing Rare Disease Day cupcakes.

To learn more

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