Back from the brink and looking forward: Karen Detweiler overcomes rare neurologic disorder

In February 2020, as COVID-19 began its spread across the world, Karen Detweiler of DeLand, Florida, and her two adult children, Jonathan Detweiler and Susan Reeve, were facing their own crisis: Karen Detweiler’s pending passing from an incurable neurologic disorder.

A retired community college professor and English teacher, Karen started having seizures in the summer of 2019 and quickly deteriorated. During phone calls with Susan, she would talk about her day and describe activities that couldn’t possibly have happened, Susan says. Then she started losing her mobility and ability to communicate. By February 2020, she was in a nursing home, receiving hospice care, bound to a wheelchair and speaking only in single syllables.

Doctors had diagnosed Karen with Creutzfeldt-Jakob disease, a rare, incurable neurologic disorder that causes rapidly progressive dementia and has a median survival of less than a year.

“During Christmas, we had had our children down to visit and say goodbye to mom,” Jonathan says. “Then, in February, her neurologist wanted to see her. We took her to his office, and he told us she had an abnormal amount of LGI 1 antibody. We asked, ‘What does that mean,’ and the doctor explained it meant that mom might have a different disease — not Creutzfeldt-Jakob disease. At that point, Susan decided to call Mayo Clinic.”

Susan quickly made contact with Gregory Day, M.D., a Mayo Clinic neurologist. Dr. Day leads a program that focuses specifically on caring for patients like Karen, who have rapidly progressive dementias. After learning more about her condition, he wanted to see her immediately.

“I wanted to see her as an outpatient, but COVID had struck, and we had to make the tough decision to hospitalize her,” Dr. Day says. “I saw her as soon as she entered our Emergency Department, and she had a type of seizure that is a characteristic symptom of LGI 1-antibody encephalitis. I had almost a joyful feeling because I knew Karen had a condition that we could at least try to treat.”

LGI 1 is a protein that sits on the surface of neurons, including brain cells, and supports the function of potassium channels. “In patients with LGI 1-antibody encephalitis, antibodies form that remove the protein or impair its functioning, which disrupts signaling processes in the brain,” explains Dr. Day. “The triggers are unknown but the disruption causes, seizures, memory loss, psychoses and other symptoms.”

He adds that LGI 1-antibody encephalitis is still fairly new as it was recognized as a distinct disease condition in 2004.

After a blood test confirmed that Karen had the disease, Dr. Day and his neurology colleagues developed a treatment plan to include high doses of steroids and plasma exchange.

“She improved dramatically just during that hospital stay,” Susan says. “It was like she finally woke up and could remember.”

A growing need

Stories like Karen’s are rare, but not unheard of, says Dr. Day. Recent research shows that about 7% of patients who were initially diagnosed with Creutzfeldt-Jakob disease ― just like Karen ― actually had a different form of dementia that was treatable. And the numbers increase when other forms of rapidly progressive dementia are included.

Rapidly progressive dementias (RPD) are forms of dementia that result in complete impairment within two years of the first appearance of symptoms. Alzheimer’s and other related ― and incurable ― dementias can sometimes progress that quickly in patients, but studies show that as many as 20% of patients with RPD may have conditions that are potentially treatable and reversible.

Those findings illustrate the need for the Rapidly Progressive Dementias Clinic ― and the value of the Dorothy J. and Harry T. Mangurian Building at Mayo Clinic in Florida, which provided 50% more space for Neurology and Neurosurgery in Florida, making it possible to recruit experts like Dr. Day and his colleagues in the Rapidly Progressive Dementias Clinic.  In addition to Dr. Day, the clinic includes Sebastian Lopez Chiriboga, M.D., a neurologist who specializes in the treatment of immune disorders that affect the brain, and Anteneh Feyissa, M.D., a neurologist who is a seizure specialist. The team also includes nurses who have special expertise caring for patients with these conditions and experts from Mayo Clinic’s Neuroimmunology Laboratory, which is based at Mayo Clinic in Rochester, Minnesota.

The benefits of the clinic are its speed and ability to focus on the unique needs of these patients, Dr. Day says.

“Because of the rapid pace of disease progression, it’s important to make a diagnosis quickly,” Dr. Day says. “That gives an answer to the patient and their loved ones. And if the disease is treatable, it gives us a better chance of delivering a better outcome for the patient.”

Better than ever

Karen barely has any recollection of the most severe points of her illness, but she does recall moments from her time at the hospital. “I just remember waking up and feeling like I’d had a good sleep,” she says.

Though Karen also received two courses of rituximab, which is an immunotherapy, she is now only taking aspirin and an iron supplement. And, she has left her wheelchair behind. She graduated to a walker and now uses only a cane. She’s also back to living on her own in an apartment that is part of an assisted living community. And she’s playing shuffleboard and bingo and having lively political discussions ― one of her hallmarks before her disease struck ― with her friends.

“It’s truly amazing,” Susan says. “Mom and I recently went shopping in downtown DeLand — something we thought we’d never do again. She was so close to dying and now she’s doing better than before she got sick.”

Karen says her short-term memory is impaired, but she uses a whiteboard with notes to help her overcome that. Most importantly, she is looking forward to the future. “We have a good history of longevity in my family,” she notes. “I’ve just turned 78, and I feel like I have 20 good years to go.”

“Our family has strong faith,” Jonathan adds. “We believe without God’s timely intervention, much prayer and Mayo Clinic, our mom would not be with us today. We are so grateful and have much hope for the future.”