This Minnesota council helps people with diseases you’ve probably never heard of

The first subtle signs appeared not long after Chloé Barnes’ first birthday.

Chloé would move her toys around on the floor saying, “Walk, walk, walk,” clearly longing to walk herself. But after trying briefly, “she just plateaued,” said her mother, Erica Barnes of Hopkins.

Barnes asked Chloé’s doctor about it. “She’s just lazy,” he said.

Barnes noticed other odd things. One day she saw Chloé holding a popsicle and seemingly unable to get it into her mouth, finally having to push that hand with the other. She told the doctor her daughter seemed to have some problems with motor skills, resembling those associated with multiple sclerosis. At the time, Barnes was a speech pathologist for Courage Kenny Rehabilitation Institute and Minneapolis schools and had worked with people with MS.

The doctor rolled his eyes. “Erica, babies don’t get MS,” he said, although she’d been talking about the symptoms, not the diagnosis.

Chloé began waking up at night, unable to say what was wrong but appearing to be in pain.

The doctor advised a stricter sleep schedule. “You need to be a little more tough on her,” he said.

One night, Barnes and her husband, Philip, helped Chloé walk around, The next morning, Philip called his wife at work to say that Chloé was weirdly tired, too tired even to crawl.

“I freaked out,” Barnes said. “I said, ‘She’s fatiguing with exercise — that is neurological. She needs an MRI.’”

The couple got a new doctor, who couldn’t find anything wrong with Chloé, either. But he acknowledged that a mother might detect signs that don’t show up in an office visit. He ordered the MRI.

A neurologist at the Mayo Clinic in Rochester said Chloé’s symptoms were so mild, she was surprised the child had been approved for an MRI. Chloé was eventually diagnosed with metachromatic leukodystrophy, a progressive neurological condition for which there is no cure. It’s caused by a genetic mutation that occurs only when both parents carry the gene and both pass it to the child. Some families have multiple children with the disease. The Barneses were lucky — their two other children were not affected.

“The cruel thing about this disease is it’s not really until you see some serious symptoms that you get a diagnosis,” Barnes said. “But by the time those symptoms present, the disease is so aggressive you’ve missed the chance for a treatment.”

Chloé underwent a bone-marrow transplant at Mayo, but died of complications. She was 3 years old.

Erica Barnes now knows that her family’s frustrating difficulty getting a diagnosis is not particularly unusual, that many people with rare diseases (or their caregivers) go from doctor to doctor trying to find out what’s wrong. What they call the “diagnostic odyssey” can last seven or eight years.

Now, 14 years after her daughter’s death, Barnes is executive director of the Minnesota Rare Disease Advisory Council, a state agency she helped create by working with legislators of both parties.

Its goal is to give others with rare diseases a smoother journey and a better chance of survival.

There’s a familiar adage in the medical community: “When you hear hoofbeats, think horses, not zebras.”

In other words, when analyzing symptoms, look for a common ailment, not a rare one. It’s logical, up to a point. Doctors should not diagnose metachromatic leukodystrophy for every 1-year-old who has trouble walking right away or sleeping through the night.

But “zebras” do exist. In fact, when grouped together, they aren’t even all that rare. A rare disease, of which there are estimated to be more than 10,000, is one that affects fewer than 200,000 people in the United States, sometimes far fewer. But put together, they’re thought to affect as many as one in 10 Americans.

Which means, said Dr. David Tilstra, a St. Cloud-based clinical geneticist on the council, that if a family medical provider sees 15 to 25 patients a day, they’re seeing an average of two rare diseases a day. But symptoms like muscle weakness or spasms are “easy to miss from a provider point of view,” he said.

They can be neurological, neuromuscular, metabolic or chromosomal. They can target skin, bones, heart, blood, lungs, kidneys or other organs. Some have familiar names, like sickle cell anemia or cystic fibrosis. Some are well known because they’ve affected famous people, like Woody Guthrie’s Huntington’s disease or Lou Gehrig’s amyotrophic lateral sclerosis. Others are less familiar, like cat eye syndrome or Usher syndrome.

Despite their variability, people with rare diseases face many similar challenges, in addition to the difficulty of getting diagnosed.

Doctors may tell them their symptoms are all in their head. All the more so if the patient has depression or other mental illness, which can be caused by the disease itself. “If you can think of a psychiatric symptom, there are rare diseases that have that symptom,” Tilstra said.

When the Rare Disease Council hosted a booth at the Minnesota State Fair this year, Barnes met an older woman with a disease that, among other things, causes dilated pupils. Years earlier, the woman had seen a doctor “and he basically accused her of being on drugs,” Barnes said.

“She said ‘I’m not.’ And he said, ‘I can’t help you if you’re not honest with me.’”

The process may be especially difficult for women and people of color, long relatively overlooked or treated disrespectfully by the medical industry.

“It is met with a great deal of stigma, bias and judgment,” said Rae Blaylark of Robbinsdale, a member of the council. She became an advocate for sickle cell anemia, a blood disorder, when her son, Treyvon, now an adult, was diagnosed with it during a newborn screening.

In 2015, Blaylark founded the Sickle Cell Foundation of Minnesota and serves as its CEO. About 93% of Americans with sickle cell are Black, about 5% are Hispanic and less than 2% are white. The disease causes intense, chronic, sometimes daily pain, Blaylark said. “Imagine being set on fire, glass blowing through your veins, being stabbed, being run over by a Mack truck, then having it reverse and run over you again — all at the same time.”

To numb the pain, patients are often prescribed opioids. Blaylark occasionally gets calls from people “who are being removed from emergency rooms by the police and accused of being drug seekers,” she said.

Rare-disease patients can face inequities because of their culture, class, education, even their jobs. Frequent doctors’ visits require reliable transportation and a flexible schedule, preferably with paid time off.

“My husband and I both have careers, insurance, higher education, support from family,” said Maureen Alderman, another council member. “We want to help families that maybe aren’t in a similar situation.”

A newborn screening found that her daughter, Caroline, has urea cycle disorder, which limits the child’s ability to digest protein but can be managed with daily medication and a special diet.

“I feel so blessed in all of this,” said Alderman, who lives in Victoria. “You would never know. Her life is very much like that of a normal 3 1/2-year-old.”

After Chloé's death, Barnes began her journey as a state ambassador for the National Organization of Rare Diseases. In 2014, she and Philip founded Chloe’s Fight Rare Disease Foundation, which supports the development of treatments for rare genetic diseases among children.

Then Barnes had the idea of getting the Legislature to create a state council. “Never going to happen,” her husband said, pointing out that she had never passed a bill, never even talked to a legislator.

“Never underestimate the power of a woman proving her husband wrong,” Barnes said, smiling.

She started making calls. Sure enough, in 2019 the Legislature unanimously passed a bipartisan bill ― endorsed by 42 organizations including patient advocacy groups and hospital systems — creating the Rare Disease Advisory Council. Initially part of the University of Minnesota, it became part of the state government in 2022.

The council succeeded in getting a law passed to reduce insurance barriers for people with rare diseases, allowing them to access specialists out of network. It supports policies prohibiting insurers from denying coverage for treatments lacking prior authorization.

Expanding newborn screenings to cover more diseases is among the council’s goals. Screening tests exist for dozens of disorders; those required vary by state. Couples can be screened for hundreds of genetic disorders, Tilstra said, “generally out of pocket last I heard, but about $350 so it’s not out of the realm of the possible,” Tilstra said.

The council wants to lighten patients’ financial burden for gene therapy and other treatments that can be effective on rare diseases but can cost $2 million to $3 million.

“There are lifesaving, miraculous drugs, treatments that can truly change the life of someone, but are so expensive that it isn’t clear how we as a country or we as a society are going to get these patients covered,” Tilstra said.

The main treatment isn’t even the only problem, said DFL State Rep. Liz Reyer. “Even if the developer and the seller of the treatment itself will waive the cost, there’s still a lot of medical care that happens before and after and it’s really expensive,”

Barnes is pleased that in these politically divisive times, legislative efforts on behalf of rare diseases are bipartisan. On the council, progressives and conservatives team up to solve problems together. “I tell my friends I just wish you lived in my world, because you wouldn’t be a so cynical about politics.”

State Sen. Julia Coleman, a Republican on the council, agreed. “There’s never been a question about [support from] the other side of the aisle,” she said. She became involved in the council partly because her father-in-law, former U.S. Sen. Norm Coleman, lost two children to a rare disease.

“I think holding your child when they die is the closest you’re going to get to knowing what you’ll feel when you die,” Barnes said.

In that moment, she said, “I promise everyone, you will not be proud of the political point you scored on Twitter. ... If you’re a politician, you will be proud of the change you made on behalf of people.”