Solving the Puzzle of Autoimmune Neurological Diseases

Imagine how lonely it must feel to be sick – the kind of sick that doesn’t get better with rest or time – and not having a definitive diagnosis. Despite multiple specialists and extensive tests, from blood draws to brain scans, doctors can’t tell you what’s wrong or how to get better.

These are the patients Amanda Piquet, MD, professor of neurology at University of Colorado Anschutz School of Medicine, sees every day. Many patients find her after long diagnostic journeys and sometimes even after being misdiagnosed. Many have spent months, years, even decades looking for answers to problems that include difficulty with coordination and speech, muscle weakness and fatigue, numbness and tingling and memory impairment.

Never Dream Alone, a newly launched advertising campaign, highlights the work of Amanda Piquet, MD, and her team along with other members of the CU Anschutz community. A special project done in collaboration with the Colorado Symphony, the ad campaign underscores how great things come when people work together. See related stories:

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Piquet wants people with autoimmune neurological disorders to know that they aren’t alone. Through patient care, research and collaboration, Piquet dreams to improve life for everyone impacted by the diverse types of autoimmune disorders that affect the brain and spinal cord.

Known for treating singer Céline Dion for stiff person syndrome, read how Piquet is advancing medicine for all people who suffer from life-altering neuroinflammatory diseases.

Tell us about yourself and your work.

I’m curious, and I love puzzles. In medical school at Penn State, I studied neurology because I love science and the brain.

When I started my residency in 2012 there was only one fellowship in autoimmune neurology in the country. Yet there was this huge unmet need. The field of autoimmune neurology was just being born, and I felt I could make a difference. There was so much research that could be done. And I loved that part of medicine – putting clinical care and research together.

Eight years ago, I came to CU Anschutz and started the autoimmune neurology program. I wanted to do research and see patients with autoimmune encephalitis and stiff person syndrome. Today our program sees any patient with an inflammation causing an attack on brain, spinal cord and nerves.

Who does your work impact?

Autoimmune diseases – neurological and rheumatological – impact women more than men. It’s an important aspect of women’s health. Unfortunately, many patients get dismissed by the medical system. We don’t appreciate the prevalence of autoimmune disease, and they aren’t easy to diagnose. We don’t have perfect diagnostic criteria. Diagnosis and treatment take into context how the patients look and present, in addition to clinical findings. It’s about listening to their stories and histories and putting the pieces together.

Why is this work important?

It’s so hard for patients to have these serious symptoms and not get an answer. It’s hard for us as providers to tell people we don’t have a good answer for them. Patients are left asking themselves: Is this all in my head? Am I crazy?

Often the patients I see have been misdiagnosed. This can be detrimental because they get put on therapies that can be harmful. As an expert in this field, I can say that we don’t truly understand the prevalence of neurological autoimmune disease. For example, we recently worked as a cohort to examine the prevalence of stiff person syndrome. We did a chart review applying the criteria used in our clinic. Then we applied it to what’s been published at other institutions and compiled the data. Now, we can say that the prevalence of stiff person syndrome is 1-2 per 100,000 people. And we say “1-2” because it depends how the disease is defined. Even as experts, we can’t agree on criteria. It’s a disservice to our patients.

What are you most excited about?

When I started my career in autoimmune neurology, no clinical trials had been completed in autoimmune encephalitis. Now, we’re running two major trials in autoimmune encephalitis and in stiff person syndrome, including a chimeric antigen receptor (CAR) T-cell therapy trial, which I believe is the next frontier for autoimmune disease. If our trial is successful, we could get the first FDA-approved therapy for stiff person syndrome. This would be pivotal for all autoimmune diseases, with a much broader application.

After the CAR T-cell trials, we hope to launch another trial that focuses on movement and music therapy in stiff person syndrome. I witnessed how a patient with stiff person syndrome was having problems with coordination, but once they started to sing, they were able to tap their foot. Having data to support the ways we can help patients with their mobility and walking issues would be huge.

With rare diseases such as stiff person syndrome, you need to collaborate with others to benefit patients. I recently presented at the Stiff Person Syndrome Research Foundation’s patient symposium. It’s incredible to work with patient-based foundations because they can bring all the experts in our field together. Right now, they are funding an initiative that brings global collaborators together so we can come to an international consensus on criteria for diagnosing stiff person syndrome.

What does it mean to you and those you serve to be part of the CU Anschutz community?

Being here at CU Anschutz has been incredible, because I have so many resources to tap into and collaborations across different disciplines. It helps me ensure patients are being treated as a whole person, which is incredibly important for my patients. We work with physical therapy, cognitive therapy, occupational therapy and psychology. Some of my patients have co-existing diseases, so we often work with cardiology, rheumatology, gastroenterology, among others. Having the ability to find people in these different disciplines with high levels of expertise is what has made me successful here.

Note: This interview was edited for length and clarity.