Utah's rare disease community raises awareness for a program at U.


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SALT LAKE CITY — Utah’s rare and undiagnosed disease community is unique. Its members are families fighting diseases that are often impossible to diagnose. Many have spent life savings in the search for answers.

Now they have come together to promote the idea of establishing a rare and undiagnosed disease program at the University of Utah. They hope their sacrifice will improve and even save the lives of others across the country.

It's been almost a year now since the Potters buried their 9-month-old baby in a Tremonton cemetery. Dustin's father, Ryan Potter, spent the weeks after his son's death designing the back of Dustin's headstone to display the mountains and the animals of the Tremonton Valley.

"I don't want to see another child have to go through it." said Julie Potter, Dustin's grandmother.

Potter doesn't want another child to go through the months of testing, doctor's visits and trips to the hospital that Dustin experienced in his short life. Dustin's mom, Lauren Potter, admits it was awful, but parents of children with rare diseases must "fight for your kid, fight for answers."

The Potters' desperate search for answers began when Dustin was just a few months old. There were already signs his little body was under attack.

"In the ER, they would look at you like what is this disease? What? Tell us more?" Lauren said.

However, the "what disease" answer didn't come until a few days before Dustin's death. The happy baby with the infectious smile had Type 2 Gaucher's disease — a fatal enzyme deficiency. At that point, grandma Julie says baby Dustin decided it was time to quit fighting.

"It was like mom and dad know, grandma knows, everybody knows now, I have type 2, I can go." Julie said.


In the ER, they would look at you like what is this disease? What? Tell us more?

–Lauren Potter


After the exhausting search for a diagnosis, time ran out much too quickly for Dustin's family. His dad says time was not on his side. "Not being able to be with him (Dustin) all the time is the hardest thing to deal with."

Dr. Ed Clark, chairman of pediatrics at the University of Utah and chief medical officer at Primary Children's Hospital, knows what these families are dealing with.

"They are in a difficult situation because their child often has something that most health care professionals have never seen before," Clark said.

Clark plans to invest Utah's wealth of knowledge and experience with rare and undiagnosed diseases into a program at the University of Utah for families from across the country.

"We're moving into a new era in which we are building a very specific program to be able to bring families in, do evaluations, and most importantly be able to care for those famlies long-term," Clark said.

Twenty-three-year-old Talan Summers of Tremonton was only recently diagnosed with a rare disease after a lifetime battling constant pain with muscle hardening and inflammation.

"It's so difficult, difficult to see my friends move on. See the world move on." Talan said.

Summers wants Utah doctors and researchers to help him move on with his life. His father, Stan Summers, says,

"He (Talan) was a healthy, vibrant young man that had plans and dreams." Stan said.

Talan points to pictures and recalls his sophomore year in high school when he was on the state championship football team. In fact, he's been playing and living through near constant pain for the past decade. Over the years, doctors across the country examined him but couldn't make a diagnosis.

"Every time we'd find a doctor, it wouldn't fit his specialty and so he would just punt," Stan said.

The gravestone of Dustin Potter (KSL-TV)
The gravestone of Dustin Potter (KSL-TV)

Finally, Talan's mother and a Utah doctor linked his symptoms to a disease.

"I feel like a pincushion. Just been pushed from doctor to doctor." Talan said.

Jennifer Summers describes the discovery, saying, "I told the doctor, look what we have here. I think this is it." It is IgG4, a disease that systematically inflames and hardens the muscles around vital organs. But the Summers aren't defeated. They are hoping a program at the University of Utah will help guide them through the maze of possible treatments for their son's condition.

Jennifer Summers tearfully tells us, "It's really hard on a family. It just tears you up."

Clark understands, saying, "The single most important thing we can do for families and for their children is provide that ongoing and caring relationship. And we're there for them, for the journey."

It is a journey that will determine if the Potters have any more children because Lauren "[doesn't] want to bury another child." The Potters hope a program at the University of Utah will be Dustin's legacy. And for Talan Summers, the journey will hopefully give him the chance to share the love he has received from his family.

"To me that is love that hopefully someday I can show my child." Talan said.

Saturday, Utah's rare and undiagnosed disease community will host the first "Utah Rare Disease Day Symposium" at the Eccles Health Sciences Building on the campus of the University of Utah. Events will be streamed live from noon to 5 p.m. and recorded for later distribution. Families may register at the door and contribute to the effort to get the program at the U. of U. funded.

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