A bolt out of the blue: when Autoimmune Encephalitis strikes, it brings an array of confusing symptoms that confuse doctors as well as patients

Imagine an entire year of your life was missing from your memory: this is just one of the many and varied symptoms that can affect people with autoimmune encephalitis (AE), a condition in which the immune system attacks the brain, leading to seizures, issues with cognition, memory loss, and psychiatric symptoms.

At a recent webinar hosted by Monash University, experts and community members came together to raise awareness about AE, its challenges, and the urgent need for better diagnosis and support.

Associate Professor Mastura Monif, a neuroimmunologist and clinician researcher at the Monash School of Translational Medicine and Alfred Health, first encountered AE early in her career after seeing a patient whose relentless seizures didn’t respond to standard epilepsy treatment.

“These were not the usual type of seizures we see commonly,” she recalled. “Something else had to be happening.” Her patient was later diagnosed with a type of AE known as anti-LGI1 antibody encephalitis. That encounter led her down the path of researching the condition.

Mistaken Identity

Misdiagnosis of AE is rife. Symptoms can vary greatly from person to person, and often mimic more common conditions such as dementia or delirium. Compounding this is its status as a rare disease, affecting an estimated 15 per 100,000 population. Professor Monif says because there’s no one telltale biomarker, and the symptoms are shared with so many other conditions, it’s crucial that clinicians, from GPs to Emergency physicians, have it on their radar.

Amanda Wells, a longstanding advocate for AE awareness, fought for two years to get her daughter Hannah diagnosed after she had a sudden first psychotic episode at age 35. “She was paranoid, delusional, and she had auditory hallucinations. When I finally got her to a local hospital, she couldn't turn a computer on … She didn't know how to shower. She knew that clothes went on her, but she didn't know which way to put them on.”

Hannah’s breakthrough came only after seeing a specialist endocrinologist, who referred her to a neurologist. Once correctly diagnosed and placed on the right treatment, the transformation was astonishing. “Within weeks, she was talking again. It was like she was back,” Amanda said.

There is hope, and you have a voice. – Amanda Wells

"Who Am I If I Can't Remember My Life?"

For Amber Cason, who was diagnosed in her early 20s while studying music at university, AE struck at the core of her identity. “It makes you question who you are,” she said.

One of the biggest challenges is the condition’s invisibility. “I lost friends who thought I was making it up,” she says. “But I’ve learned that I don’t need to be who I was before. I can still reach my dreams.”

Amber lost an entire year to the disease, a gap in her memory that her mother, Martine, has had to help her fill. Martine remembers the first signs: “She put her bags in the car, then got in and asked, ‘Where are my bags?’ That’s when I knew something was wrong.”

Who are you if you can’t remember the things that you’ve done? – Amber Cason

Amber’s experience highlights a painful reality for many patients with AE: delayed diagnosis and misattribution of symptoms. Before receiving the correct diagnosis, she was told she had anxiety and stress-related issues. “Doctors didn’t put two and two together,” she said. “They didn’t think about the anxiety, the incontinence, the stress, and the fatigue as being one thing.”

Navigating the health system

Speakers shared their sense of isolation about living with a relatively newly recognised disease, and not being able to tap the expertise and resources of the supports available for better-recognised conditions such as diabetes or cancer. These not-for-profit organisations for communities and advocate for policy changes and raise money for research: everything from fun runs, to specialist nurses and allied health practitioners who can be contacted on a phone line, and peer support and education. From Australia, Amanda Wells helps run the International Autoimmune Society facebook group, a first step in that direction.

Then there were the experiences of not being heard by police and clinicians.

The doctors who first assessed Amanda Wells’ daughter Hannah assumed she was drug affected or mentally ill, and admitted her to a closed psychiatric ward. “They took her away from me in an ambulance with a police escort because they said it was mental health,” Amanda recalled. “They never did any neurological tests.”

Michelle M’s son was lucky to be diagnosed quickly with AE, when he became ill as a fit and healthy 21-year-old - but there were other challenges. Having lost about 15kg in a matter of weeks, he looked scruffy and gaunt when he absconded from a Melbourne hospital. “We herded him back into the hospital, but in the meantime, the hospital staff had rung the police and the police van arrived with four really burly police officers … he was being held down.

“I spoke to the Senior Sergeant, and I explained the illness. I thought I did it carefully and considerately. And he said, ‘So it's drugs’... At that point, a neurologist or psychiatrist was walking past to go in and see our son, overheard, stopped, and explained it. Suddenly, his whole attitude towards our son and to us changed: it was caring. It was empathetic.”

Years later, when Michelle accessed her son’s medical records, she discovered she had been labeled a “difficult parent”. Her response?...

No regrets. We had to advocate. With AE, you have to fight to be heard. – Michelle M

Research directions

The Australian Autoimmune Encephalitis Consortium, led by A/Professor Monif, is working to  raise awareness so people don’t miss out on crucial early treatment.

From its beginnings with that one patient, this effort has grown and is now across 14 sites nationally and in New Zealand, with 90 clinicians and researchers studying the different types of AE and their impacts. They’re examining everything from brainwave patterns, to molecular biomarkers, changes to the soluble proteins or other cells in cerebrospinal fluid and the blood. They are also trying to create a picture of what happens after the acute phase, to gain a deeper understanding of how the disease progresses.

The consortium aims to generate the evidence needed to develop integrated clinical guidelines, and generate the evidence needed by others to provide the sort of support that is available for people with conditions like cancer and diabetes - whether that’s NDIS recognition or advocacy groups providing service such as specialist nurses to give advice on the phone.

“It's not just the ED physician, not just the neurologist,” A/Prof Monif says. “This requires all of us to come together: so if a GP sees a patient in a country town, they can go to the integrated guidelines and see the tests they need to run. Or if they see someone in the chronic phase of the illness, they can look through the integrated guideline and see which supports might be needed.”

*If you have a diagnosis of AE or another neuroinflammatory condition, consider joining the National Study. Email neuroimmunologyResearch@monash.edu.

The Autoimmune Encephalitis consortium is also seeking community members (people living with AE or caregivers) for its Advisory Panel. To find out more, contact the team on neuroimmunologyresearch@monash.edu

The IAE Society facebook group is open to anyone with a confirmed AE diagnosis.

About Monash University

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With four campuses in Australia and a presence in Malaysia, China, India, Indonesia and Italy, it is one of the most internationalised Australian universities.

As a leading international medical research university with the largest medical faculty in Australia and integration with leading Australian teaching hospitals, we consistently rank in the top 50 universities worldwide for clinical, pre-clinical and health sciences.

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