SALT LAKE CITY — "Alone we are rare, together we are strong," is the rallying cry of Utah's rare disease community. Now, some local families are working to shine a national spotlight on a medical issue that affects an estimated 1 in 10 Americans.

Jennifer Christensen Summers calls Tremonton home, but she's been living in a rare disease world for over a decade now. She has discovered it can be a lonely journey without "a shoulder to cry on and a doctor to go to."

It started when Talan, the son of Summers and her husband, Box Elder County Commissioner Stan Summers, went from a relatively healthy 16-year-old athlete to a disabled teen. Even worse, no one could give the Summers family answers.

"We've been stumped with doctors who don't know how to deal with him," Jennifer Summers says. "He is the only one in Utah with his disease."

Talan was eventually diagnosed with a systemic sclerosis disease known as IgG4-RD. It is a rare condition that hardens the body tissues from the inside out and can shut down vital organs. During her long search for that diagnosis, Summers discovered the group known as Utah Rare.

"I can't even tell you how much help it's been to have support," Summers says.

Utah Rare advocates for people battling the over 7,000 diseases identified as rare or undiagnosed. Summers introduced her friend and neighbor Julie Potter to the group after she lost a grandson to a rare disease.

"It helps me," Potter says. "It fills the void, is basically what it does."

Potter's grandson, Dustin, died from Gaucher's disease before his first birthday.

"He sits on my shoulder, calms me down when I get nervous, and he's been pushing me, and this is his legacy," Potter says.

This year, Potter and Summers teamed up to organize the annual Utah Rare Day at the state Capitol.

Slowly, they are working to put issues — like the right to try drugs without FDA approval, legalization of medical marijuana and research funding — in the local and national spotlight. These are survival issues for Rare families.

"Some of these families have lost their jobs and their homes, and they have no way to pay their bills," Summers says.

Related

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

Utah's rare and undiagnosed disease community is unique. Its members are families fighting diseases often impossible to diagnose. Now they have come together to promote a program for those with rare diseases at the University of Utah.

On Monday, Commissioner Stan Summers visited the White House for a listening session with President Donald Trump on health care reform. He told the group, including the president, Vice President Mike Pence and Health and Human Services Secretary Tom Price that the last few years have taken a toll on his family due to soaring health care costs.

Summers says he's working three jobs and running several businesses just to secure and pay for reliable health insurance that includes a $6,000 deductible. However, he said if there was one thing he could ask the president to work on, it would be that "if somebody has cancer or somebody has a rare disease, or continues to have major health problems … why do we have to do a deductible every year?" Summers suggested, with Talan's medical bills, the family will meet its deductible in April but then turn around and start over again next January.

Trump promised to take concerns raised at the meeting into consideration as the U.S. House and Senate hammer out a bill to replace the Affordable Care Act.

The Summers hope insurance will expand coverage for rare diseases and research into treatment and cures. There is no cure for Talan's disease, so Summers says "we are just trying to do the best we can with him."

Summers and Potter both believe the strength and collaboration of the rare disease community will save others in the future.

The more they "work with one voice," the more that can be accomplished, Potter says.

You can follow Talan's rare journey on his Facebook page entitled "Talan's Fight - Never Give Up" or on his blog at talansfight.blogspot.com.

In addition to Utah Rare Day at the state Capitol, the organization treats children with rare diseases to a Jazz basketball game, where they are recognized at center court. It also hosts a symposium to discuss issues important to the rare disease community.

Related topics