Neurology – Autoimmune Warrior

Could Alzheimer’s Be an Autoimmune Disease?

Prominent neurologist awarded grant to research Alzheimer’s as an autoimmune disease

Alzheimer’s is the most common cause of dementia; according to the Alzheimer’s Association, Alzheimer’s disease accounts for up to 80% of dementia cases.

Although little is still known about this disease, which causes significant loss of memory and other cognitive abilities, the most well-accepted hypothesis is that Alzheimer’s is caused by the build up of a protein called beta amyloid. When too much beta amyloid is accumulated in the brain, toxic clumps of the protein, called plaques, can form. These plaques are believed to be the culprit for Alzheimer’s; as a result, recent clinical trials have aimed to find a way to target and reduce the amount of plaques in the brain.

However, a prominent neurologist and medical researcher from Toronto, Ontario, Canada has put forth a new hypothesis on the development of Alzheimer’s. Dr. Donald Weaver theorizes that beta amyloid is actually a normal part of the brain’s innate immune system, and is there to kill bacteria and serve as a messenger protein. When the body’s immune response is triggered by an infection, trauma, or exposure to noxious substances, brain cells are triggered to release beta amyloid.

The problem arises, however, when beta amyloid mistakes brain cells for bacteria, and begins to kill these cells instead. This leads to fragments being created in the brain, which go on to trigger the continued release of beta amyloid. The result is a self-perpetuating cycle of releasing beta amyloid and killing more brain cells, resulting in a chronic disease.

Dr. Weaver’s theory on Alzheimer’s as an an autoimmune disease has garnered the attention of the medical community. He has been awarded the silver Oskar Fischer Prize, a grant worth US$400,000 from the University of Texas at San Antonio, to pursue research related to his theory.

Dr. Weaver believes that by exploiting the body’s natural way of controlling the immune system, Alzheimer’s symptoms can be reduced, and the disease could even be prevented. He commented, “If we accept the fact that Alzheimer’s disease is an immune-based disease that has certain triggers, then I think that we need to go back and revisit the risk factors.” Examples of risk factors include air pollution, head trauma, and genetic susceptibility.

Ultimately, Dr. Weaver’s research represents hope for a new way of tackling Alzheimer’s disease. Even more exciting is that Dr. Weaver’s research may have applicability beyond Alzheimer’s to other neurological conditions as well, such as Parkinson’s, Multiple Sclerosis (MS), and Encephalitis.

Jenny Hsieh, director of the University of Texas at San Antonio’s Brain Consortium, believes it’s important to provide researchers the opportunity to pursue ideas that are outside the box. “We just need people to be able to work on different ideas…because the bottom line is all of the current approaches to Alzheimer’s disease [are] not working.”

To learn more about Dr. Weaver and his work, visit: www.weaverlab.ca

Father Battles Kelch-11 Encephalitis, a Rare Autoimmune Disorder

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*Eric Walters works with his physical therapist to regain strength and mobility, after being diagnosed with a rare autoimmune disease (Image courtesy of USA Today).*

Eric Walters was a fit, 45-year-old husband and father, living his best life in Stevens Point, Wisconsin. An avid mountain biker and ice fisherman who embraced Wisconsin’s chilly weather and loved the outdoors, Walters began experiencing some concerning symptoms in January 2020.

He worked as an electrician, and had many busy days on the job. One day when he woke up to go to work, he found himself extremely dizzy. After two weeks of dizziness, he decided to go to urgent care, thinking that he had an ear infection.

Unfortunately, Walters never made it to the clinic. Instead he passed out on the job, and was transported to the ER. After receiving a steroid injection and told he was suffering from vertigo, he was discharged without further explanation. Doctors at the time didn’t know it, but Walters was suffering from a much more dangerous condition than vertigo.

It turns out that Walters had developed testicular cancer, but even he didn’t know it. His immune system had gone after the cancer and eradicated it, leaving behind a non-cancerous mass of cells. But, even after the cancer was gone, Walters’ immune system went on the hunt for more KLH11, also called Kelch proteins, which are the cells associated with testicular cancer. Because Kelch proteins are also located in the brain stem, his immune system went after his brain as well.

When Walters began experiencing more dizziness, his doctors performed an MRI, revealing a lesion on his brain stem. At the time, his physicians thought he was suffering from multiple sclerosis (MS), a reasonable assumption given that this autoimmune condition also causes scarring lesions on the brain.

Walters was put on a treatment for MS, but continued to experience scary symptoms like double vision, dizziness, and a locking jaw. His facial muscles began to degrade, and just breathing took considerable effort. He received another MRI, which revealed that the single lesion on his brain stem had grown even larger. However, this was inconsistent with typical MS symptoms, which would result in multiple lesions.

At that point, Walters’ medical care team realized that they were dealing with something other than MS. He was then transferred to the Mayo Clinic’s Rochester, New York campus, where a friend of his had received excellent treatment. There he underwent a full battery of new tests, including an ultrasound and CT scan, which revealed the non-cancerous mass indicating that he had had testicular cancer. Combined with his symptoms, Walters was diagnosed with testicular cancer-associated paraneoplastic encephalitis, also known as Kelch-11 encephalitis for short.

Relatively little is known about Kelch-11 disease, which was only discovered by researchers in 2019. It is, however, known to be an autoimmune disease that causes severe neurological symptoms in men diagnosed with testicular cancer, affecting their limb movements, vision, and speech.

With his new diagnosis, Walters’ doctor prescribed him stronger steroids and chemotherapy to tamper down his rogue immune system. He also was inserted with a diaphragmatic pacer, which helps send signals to his lungs to keep breathing, along with a ventilator. Though living with Kelch-11 hasn’t been easy, Walters’ son Sam and wife Mary are what keep him going.

“We’ll become the poster child of Kelch if it means that other people don’t have to go through this,” says his wife Mary Walters. She wants to raise awareness for Kelch-11 disease, so others can get an accurate diagnosis and the treatment they deserve. According to Walters’ physician, Dr. Divyanshu Dubey, there are only 60 known patients who have been identified with this disease in the past few years.

As for Walters, he and his wife have faith that he will recover. “I’m just starting the healing process now,” he said. “Now I really get to fight.”

If you would like to contribute to helping Eric Walters and his family fight this devastating autoimmune disease, his brother has set up a GoFundMe fundraiser with the objective of raising $25,000.

Woman Describes Battle with Neuromyelitis Optica (NMO)

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Cealie Lawrence (right) has been battling a rare autoimmune disease affecting her eyes, spinal cord and brain. The symptoms were so debilitating, she moved in with her son Robert (left) to cope. Image courtesy of *The Columbus Dispatc*h.

60-year-old Cealie Lawrence was working as a server at a local restaurant in the Columbus, Ohio area when she experienced a sudden change in her vision.

“I couldn’t see anything but darkness and a little light,” Lawrence said. “I panicked.”

Essentially blind in both eyes, she was taken by her co-worker to a local hospital where healthcare workers ran numerous tests on her, including a spinal tap. Unfortunately, the cause of her sudden blindness couldn’t be found – so she spent a week in hospital.

Lawrence was eventually diagnosed with neuromyelitis optica spectrum disorder (NMOSD), a chronic autoimmune disease in which the body’s own immune system attacks the optic nerves, spinal cord, and the brain. The condition can lead to blindness and even paralysis. It is also known as neuromyelitis optica (NMO) and Devic’s disease.

Dr. Geoffrey Eubank, Medical Director of the Mid-Ohio MS Center at OhioHealth Neurological Physicians, stated, “We know how bad [neuromyelitis optica] can be. We know it can put people in wheelchairs, make them blind, really impact them…This is a disease that frightens us.”

According to the National Multiple Sclerosis Society, there are an estimated 4,000 people living with NMOSD in the United States, and 250,000 living with the condition worldwide. Neuromyelitis optica is similar to multiple sclerosis (MS), since it’s also an autoimmune disease that impacts the central nervous system and disrupts the flow of information between the body an the brain, leading to permanent damage and deterioration of the nerves.

Eighty percent of those diagnosed with NMO are women. It occurs most commonly between the ages of 40 and 50, however, it’s been discovered in children as young as 3 and adults as old as 90. Research has found that demyelinating diseases are more common among certain populations, such as Africans, Asians and Native Americans.

As for Lawrence, her eyesight did slowly return after her stay in hospital, but she started suffering paralysis from the neck down months later. She then started physical and occupational therapy, which eventually allowed her to walk again. Despite this win, Lawrence’s NMO continued to relapse, and over a period of seven years, she made over 100 hospital visits.

“It was really bad,” she said, noting that the symptoms of her chronic illness were so debilitating, that they caused her to move in with her son Robert for help.

Five years ago, however, Lawrence found a ray of hope; she was enrolled in a clinical trial at OhioHealth for a new drug called Enspryng, a promising treatment for NMOSD, that’s been shown to reduce attacks of the disease. Since receiving the treatment, Lawrence says she hasn’t experienced a single NMO relapse.

“It’s a miracle,” she said of the drug Enspryng, which was officially approved by the US Food and Drug Administration in August 2020 for the treatment of NMOSD. This makes the drug the third approved treatment for the disorder, in addition to Soliris, which was approved in June 2019, and Uplizna, approved in June 2020.

“Thank God for the development of this medication because I truly believe it’s going to help a lot of people in my situation,” she said. “This is my second chance at life and [to live] more abundantly.”

Lawrence has since been able to move out of her son’s place and is now living independently.

“I was just existing before. I take care of me now,” she said proudly, noting that she is now enjoying her passion for cooking, playing with her grandchildren, and is even going back to school to pursue a degree in counseling.

“That’s a passion of mine because a lot of individuals, especially my age, that are suffering in silence,” she said. “I believe I could be a big influence and a big help to them.”

Lawrence credits her recovery to having a determined attitude and her faith in God.

“If I didn’t have God in my life, I truly feel that I wouldn’t be here right now,” she explained. “I had faith all along that even when I was paralyzed, lying in that hospital bed on my back, not being able to feed myself or do anything for myself…I maintained that I was not going to be flat on my back for the rest of my life.”

To learn more about Lawrence’s remarkable journey with NMO, read her full story in The Columbus Dispatch.