Sioux Falls to light up landmarks today for Rare Disease Day

SIOUX FALLS — Falls Park and the Arc of Dreams will light up with a brilliant combination of blue, green, pink and purple today, Feb. 28, to raise awareness for Rare Disease Day.

As many as 800 million people worldwide — including roughly 30 million Americans — suffer from one of approximately 7,000 rare diseases, which only about 5% have a cure for.

“International Rare Disease Day is on the last day of February every year, and the reason being is that every four years we have a leap year — so Feb. 29 is the rarest day on the calendar,” said Ben Forred, Sanford’s director of rare disease research. “It's kind of reserved as a special marked day in the year where everyone with any rare condition can get together. There's a lot of awareness raised by universities, scientists, drug companies, to try to elevate the topic.”

Though these diseases, themselves, are rare based upon the number of diagnoses, Forred said having a rare disease or knowing someone who does is actually quite common.

“The simple fact is that it might be really rare for you to have one disease, but it turns out that it's not rare at all for you to have a rare disease. In fact, about one in 10 people has one,” Forred said. “So if you do a little bit of thinking within your own family and within your own circle, it doesn't take you very long to find someone who has a condition that's considered rare.”

Before coming to Sioux Falls more than a dozen years ago, Dr. David Pearce, president of Sanford Research, spent much of his life dedicated to researching Batten disease — a disorder that causes the rapid loss of vision and other cognitive functions, resulting in seizures and is often fatal.

After leading a large group of researchers at the University of Rochester in New York, Pearce came to Sanford to continue his efforts in rare disease research.

“I was working on children's rare brain diseases, so [Sanford] recruited me to build a program around that. What I decided to do was to focus that children's research center on rare children's diseases, and the idea being that we would grow that work on numerous rare diseases,” Pearce said. “There's over 7,000 of them, probably two thirds of them affect children.”

Research into rare diseases is incredibly complex, as these diseases are often undiagnosed or misdiagnosed several times.

“In the clinic, you can be diagnosed with a seizure disorder. You can have all sorts of different types of seizures and frequencies of seizures, and they have different approaches they use to treat that,” Forred said. “But just because you have seizures doesn't mean that you have a seizure disorder. You can have one of probably thousands of different kinds of diseases.”

Forred added that on average, a rare disease is misdiagnosed seven times before it’s identified.

“[A patient] will go through clinical testing, and one doctor will say ‘This is what you've got, we're going to put you on this medication, and we'll take care of it,’ and it just doesn't really do much,” Forred said. “It can take on average 12 years, assuming the patient lives that long. Being undiagnosed, in the rare disease community, basically means that you don't have a definitive diagnosis of what's going on.”

In an effort to get answers, much of the work in the labs at the Sanford Research facility in northeastern Sioux Falls focuses on the genetic coding within individual cells.

“Our researchers are very, very, very hyper-focused on some mechanism within the cell or some sort of a biochemical pathway, and so rare diseases provide situations where there's something broken in that pathway,” Forred explained. “It makes an interesting model for them to study so that they can learn how that whole thing works in general.”

By identifying what occurs in a cell with one rare disease, researchers might be able to identify how that symptom is caused in other rare diseases, advancing the understanding of multiple diseases at once.

“If you've got seven diseases that break that process in different ways, not only do you learn a lot about each of those seven diseases, but you learn a lot about how that process is supposed to work in general,” Forred said.

During his time in New York, Pearce installed a groundbreaking registry of children suffering from Batten disease that was used to help form one of the first clinical trials addressing that disease.

Teaming up with Forred in Sioux Falls, Pearce wanted to create another registry, but had a hard time deciding which rare disease to focus on.

“He said ‘We’ve got to do this for more. This is something that leads to actual events taking place in the clinic,’” Forred recalled of Pearce’s idea. “He didn't know which one to pick next, so he said ‘Let's just do a big registry for all of them.”

From that, the two created in 2010 the Coordination of Rare Diseases at Sanford, known in shorthand as CoRDS.

“We use a standardized list of rare diseases and if anyone has one of those disorders, they can register. People who are undiagnosed, but likely to have a rare condition can also register. Then the third group of people that often register are siblings or parents who are not affected,” Forred said. “It's basically a platform to gather patient information. What we're trying to get through is the patient's story, and how their life has played out over time, so it's something that's meant to be interacted with multiple times over the course of your life.”

Forred said with rare diseases, the patients are often the experts on their symptoms, so having an up-to-date registry could help researchers identify new areas of study.

“Researchers don't know what body systems to look at or what cellular pathways to look at until they actually get a good idea of what a patient with that disorder looks like or lives like,” Forred explained.

Working alongside more than 100 patient advocacy organizations, CoRDS formed a general questionnaire for registrants as well as a disease-specific questionnaire that will help patients best explain how their lives are affected to researchers.

Down the road, as research advances, Pearce and Forred said that CoRDS helps Sanford contact patients about clinical trials or other breakthroughs regarding their disease.

As of Monday, Sanford has enrolled more than 16,000 people into CoRDS.

Pearce and Forred agree that raising awareness for rare diseases is a major part of advancing research into the disorders.

Beyond the planned lighting of iconic Sioux Falls landmarks, Sanford has created a series of templates for social media users to fill in and share how rare diseases have affected their lives or the lives of someone they know.

And it’s not just Sanford who helps to raise awareness, either.

“On Rare Disease Day itself, as in years past, Oh My Cupcakes! is going to be making a rare disease themed cupcake,” Forred said. “There's a family in town that has two little boys affected by a rare condition, and they work with Oh My Cupcakes! every year and the boys actually helped design the cupcakes.”

With each order of the special cupcakes, customers will receive one of Sanford’s Rare Disease Day signs to fill out and hang throughout the store.

“It's really kind of impactful to walk in and see that we're talking about things that people write off as negligible,” Forred said. “You walk into one cupcake store in one city in the United States with a wall that will be plastered with stories from real people who are affected by a rare disease that always strikes. So I'd encourage readers or anyone to go grab a cupcake or 12.”

More details on Rare Disease Day events taking place across the world can be found on the organization's website.