A patient presents with severe encephalopathy and new-onset seizures with no apparent cause. They've had no stroke, no new medications, and no detectable tumor. The symptoms progress rapidly over a few days to weeks, putting the patient in the ICU with debilitating seizures. Maybe there are signs of neurological impairment due to the immune system’s response to a cancer. Or perhaps there are bewildering symptoms such as severe rigidity starting in the back and abdominal muscles, often mistaken for back spasms before spreading throughout the body. These are all symptoms that can signal a rare autoimmune neurologic disease, which are challenging to detect and even harder to manage.
Kyle Blackburn, M.D., Assistant Professor of Neurology at the Peter O’Donnell Jr. Brain Institute of UT Southwestern
Yet, just like the most common diseases, early detection is crucial. Kyle Blackburn, M.D., Assistant Professor of Neurology at the Peter O’Donnell Jr. Brain Institute of UT Southwestern, emphasizes the urgency: “It is important to treat as soon as possible. But because they are rare, and most doctors will only encounter one or two cases in their lifetime, they’re just not on their radar.”
The path to specialization
During his residency, Dr. Blackburn was drawn to the intersection of neurology and the immune system. He realized a wide spectrum of newly recognized autoimmune disorders required dedicated care. Inspired by other UT Southwestern pioneers such as Benjamin Greenberg, M.D., and Steve Vernino, M.D., Ph.D., he spent two years after his residency caring for patients with rare autoimmune disorders and learning to conduct clinical research. Today, under Dr. Blackburn’s leadership, the Autoimmune Neurology Clinic at UT Southwestern treats a variety of rare conditions, including autoimmune encephalitis, stiff person syndrome, and paraneoplastic neurological disorders.
Education and advocacy
Many of these autoimmune neurologic disorders have been discovered in the past few decades, driven by new methods to detect antibodies targeting the nervous system. These antibodies help doctors diagnose the condition and can help determine the best treatment approach and predict the long-term prognosis.
Experience is crucial in accurately diagnosing these complex conditions. Dr. Blackburn’s work includes raising awareness about the clinic, so physicians who suspect a patient may have one of these disorders can promptly refer them to the clinic for evaluation. Early recognition and referral can also facilitate hospital admission for inpatient treatment, if necessary. The clinic's efforts extend beyond patient care to education and advocacy, with Dr. Blackburn speaking at events such as neurology’s annual Brain Summit symposium and never missing an opportunity to connect with colleagues about a case or answer their questions about these diseases.
Pushing the boundaries with research
The clinic is also committed to facilitating clinical research on rare autoimmune disorders to better inform patient care. Gathering better evidence to guide treatment approaches for patients with autoimmune encephalitis and MOG antibody disease is one of the biggest needs in the field. The team at UT Southwestern is bridging this gap by participating in large multicenter trials investigating new treatments. “Conducting trials in rare diseases requires a lot of effort on the part of families and researchers, but it’s critical to advance our understanding,” Dr. Blackburn explains. In addition to clinical trials, the clinic also seeks to better understand the long-term outlook for patients and identify new biomarkers that will inform clinical care.
Patient-centered care
During a typical clinic day, the team will evaluate new patients and check in with follow-ups as well. The team’s process includes reviewing extensive medical records, collecting a detailed history, and administering tests to detect subtle cognitive deficits. “Around once a month, a patient comes to the clinic and I immediately have to send them to the hospital because they require acute treatment and extensive rehabilitation,” Dr. Blackburn said.
Once the disorder is under better control, the focus shifts to educating patients and families – discussing the results of testing, what they mean and what to expect in the future. “For many of our families, they just made it home a couple of weeks ago, and life is quite different, as their loved one has significant cognitive impairment, becomes agitated easily, or has significant motor impairments. They’re having to adjust to this new reality.” There is an intentional focus on counseling families on the plan going forward, including the need for immunotherapies and adjustments to medications for seizures. The visits are short, but they are thorough.
A multidisciplinary approach
As patients recover from their condition, the clinic team collaborates with rehab teams across Dallas and Fort Worth, helping address whatever accommodations are needed at home or developing treatment plans for symptoms that are impeding recovery. To manage severe cognitive and behavioral symptoms in patients with encephalitis, the clinic partners with colleagues in the UT Southwestern Memory and Cognitive Disorders Clinic. Mental health professionals, including psychiatrists and counselors, are also valued members of the clinic team, as they help manage symptoms like anxiety and help patients and families cope with life after encephalitis.
Hopeful outcomes
Disorders such as anti-NMDA receptor encephalitis tend to affect people in adolescence or early adulthood, but despite how rare and traumatic the disease can be, patients can make remarkable recoveries. “It's always remarkable to see people that have been in the hospital for several months, some of them on ventilators, start to make a slow and gradual recovery and, despite this setback, start living their lives again,” Dr. Blackburn said.
This emerging field highlights the importance of early detection and specialized care. With ongoing research, patient advocacy, and a dedicated clinical team, the future for patients with autoimmune neurologic disorders looks increasingly promising.