CJD: A Rare and Devastating Brain Disease By [Your Name]

Everything changed for Arlene VonMyhr

Everything was normal for Arlene VonMyhr, until it wasn’t. VonMyhr, 55, and her husband, Gary, celebrated the University of Michigan clinching a national championship on Jan. 8. That night, she woke up with what seemed like stroke symptoms, but doctors sent her home undiagnosed.

Over the next two weeks, VonMyhr rushed to the emergency room near her Byron Center home four times with slurred speech and balance issues. By the fourth visit on Jan. 26, VonMyhr didn’t leave the hospital again. “It was a really rapid five weeks of decline,” said Gary VonMyhr, her high school sweetheart and husband of 34 years.

Metro Health doctors ran tests, poking and prodding, as VonMyhr struggled to talk. Her right arm started to fidget involuntarily. And a Jan. 31 lumbar puncture eventually solved the mystery: Creutzfeldt-Jakob Disease – a rare degenerative brain disease. It’s always fatal, its victims are mostly random, and there is no cure.

“Once a definitive diagnosis came back to CJD, then at that point they stopped all the treatments and the IV because there wasn’t anything they could do for her,” said Gary VonMyhr. “It was all about comfort and dignity at that point.”

What is CJD?

Creutzfeldt-Jakob Disease, or CJD, is an aggressive brain disorder that causes dementia with symptoms like memory loss, trouble speaking, balance issues, and jerky movements. It goes downhill quickly, causing people to die within months.

“For almost everyone, unfortunately, it’s an extremely rapid course,” said Brian Appleby, director of the National Prion Disease Pathology Surveillance Center.

The disease, which usually strikes older adults, is caused by proteins that misfold, clump together, and punch holes in the brain. Researchers still don’t know why proteins act this way, but the abnormality is known as a prion disease.

About 85% of CJD cases are “sporadic” because they occur spontaneously without an apparent cause. Most of the remaining cases come from a genetic mutation of a prion protein. And less than 1% are variant CJD cases where patients ate diseased beef from animals with mad cow disease – another prion disease. Although they share a name, variant cases are not the same disease as classic CJD.

Appleby says a protein misfolding is believed to be a “random chance event.” “It causes brain damage. It causes brain cells to die. And we don’t necessarily understand why,” he said.

For Jay Mitzner, the disease came fast.

It started one afternoon in March 2022 when he cupped his head in his hands and told his wife, Carole Colburn, “I feel strange.” Another day when Mitzner looked down, his fingers looked elongated and his legs swollen.

About a month later, after struggling to read words on a page, Mitzner, 77 of Mason, rushed to an emergency room at McLaren Hospital where doctors ruled out common diagnoses: it wasn’t his heart, blood pressure, or a stroke.

After a few days, a neurologist then flagged his vision issues as possible CJD.

Colburn didn’t understand the diagnosis, but she remembers a neurologist telling her, “it’s nasty, nasty, nasty, nasty.”

Mitzner was then transferred to Blodgett Hospital in Grand Rapids where more symptoms popped up. He couldn’t remember the year he was born or the names of his grandchildren. But he could tell Colburn that there was a war in Ukraine started by Russian President Vladimir Putin.

“It was devastating,” said Colburn, his wife of 23 years.

Mitzner’s final eight days felt like plummeting down a steep hill of a rollercoaster. One day he was walking around the hospital room, then the next day he could only walk from the bed to the chair. Another day later, he stopped walking. One day he was eating three meals. The next day, he picked at his food. Then a day after that, he couldn’t eat at all.

“That’s what CJD does,” Colburn said. “It literally cascades through the brain, creating these holes.”

Mitzner, an attorney and a guitarist, died on May 22, 2022 – four weeks after being admitted to the hospital. His last words were, “I love you.”

Rare, but rising

Creutzfeldt-Jakob Disease is incredibly rare. In the United States, it occurs in 1 to 2 people per one million a year, but the risk increases with age, affecting 5 per one million people who are 55 and older. Another way to think about the disease is its frequency: one in every 6,000 deaths in the United States is due to CJD.

The Corewell Health case report, published in a neurology journal last April, detailed the five patients seen from July 2021 to June 2022. Patients came from four counties within a 90 miles radius of Corewell Health’s Grand Rapids hospitals. And the report flags four other anecdotal cases in the area, including former Otsego Mayor Cyndi Trobeck who died from CJD in March 2022.

To doctors, these five cases – documented as two clusters – indicate a much higher rate of CJD: between 3.1 and 12.5 per million. “Such a wave of dense temporo-spatial clustering of CJD in West Michigan is very unusual and alarming,” the case report said.

A year later, Corewell Health says physicians are still researching. Corewell Health physicians who published the report were not available to talk about these cases of CJD.

But federal and state public health officials who monitor the disease haven’t found cause for concern. The U.S. Centers for Disease Control said it is aware of the Michigan report, noting “several cases of sporadic CJD may occasionally be diagnosed in a particular area around the same time due purely to chance,” according to epidemiologist Ryan Maddox.

After reviewing the report, the Michigan Department of Health and Human Services says the findings are not surprising “given the large geographic range defined in the paper” and the scale of Corewell’s footprint. “Case counts for CJD cases in Michigan do vary some year to year but continue to remain within what we would expect to see,” the state health department said in a statement.

Supposed clusters should be taken seriously, according to Appleby, and investigated appropriately: is it a prion disease, what’s the cause, and were there any shared exposures. Recently, a mysterious cluster that struck 48 people in a Canadian community was investigated by public health officials. It didn’t end up being CJD.

It can be surprising to people, Appleby said, but those numbers from Corewell Health are expected. “We did discuss it with the CDC, the public health department, and we looked at the data – like we normally would for an epidemiologic study – and we didn’t see cause for concern,” he said.

Although CJD remains rare, doctors are seeing case counts go up. A group of researchers published in JAMA Neurology’s February issue that found CJD cases have “risen considerably” from 2007 to 2020, affecting older women more. They attribute this trend to an aging population and improved tools that can better detect the disease.

“One thing that we do find is once a clinician diagnoses one case of CJD, they’re much more likely to diagnose it again because it’s on their radar,” Appleby said.

CJD leaves a mark

Colburn didn’t know about CJD before her husband died. She now wears a purple CJD ribbon, got a new license plate, and will speak with “anybody and everybody” about the “nasty, cruel” disease. Rare diseases, because they affect a small number of people, often struggle to raise money for research. And only a fraction of roughly 7,000 known rare diseases, about 5%, have treatments approved by the federal government. There is no treatment for CJD.

One treatment tested six years ago among British patients showed “promising early results,” and a clinical trial is currently underway in the United States.

VonMyhr remembers the fear and anxiety of not knowing what was ailing his wife. Weeks were spent in prayer. The couple, who met as teenagers in their West Michigan neighborhood, married young, and raised two children together. Their first granddaughter will be born this year.

Now VonMyhr is also trying to tell more people about the disease so it can be researched, treated and solved. “This obviously doesn’t impact as many people, but it’s so aggressive, so debilitating, so impactful,” he said. “The ultimate motivation would certainly be finding a cure.”