February 23, 2021 | By Dominic McDonald
Message from the IAES blog staff: As the 4th and final of the IAES blog series for AE Awareness Month 2021, we are honored to present and hope you enjoy the compelling story of the AE journey, thus far, of one of our AE Warrior members, Dominic McDonald and his guide dog Captain! This includes an interview Dominic had with one of his doctors regarding his thoughts about AE and rehabilitation.
Hi, my name is Dominic McDonald and a Sydney, Australia based Autoimmune Encephalitis Warrior. I was first diagnosed with AE in 2012. Prior to my first acute episode I lived a very full life studying economics and I was a competitive rower. Nearly nine years later, I have discovered just how difficult life as an AE Warrior can be.
I have had six acute relapses. Four of the relapses occurred between 2017-2018. I have endured the fluctuations of this horrible illness and the evolving nature of rehabilitation. I have learned to adjust and live with different expectations and contentment. Recovering from a chronic autoimmune illness that is still not yet very well understood requires more than just individual willpower (although it certainly helps) but the AE Warrior has a much greater success rate when the outpatient rehabilitation care can be well defined.
The past two years of my rehab have been the most successful of my journey. I feel as though this is because I have been able to thrive under a well-structured and defined rehab program. As part of my recovery and rehab I now have a trained guide/service dog named Captain. Captain is a 3-year-old black lab that is a trained guide dog and now my therapy dog. Captain accompanies me everywhere including all of my doctor and infusion appointments. He has made an incredibly positive difference in my life and recovery.
I was introduced to Dr. Robert Perna by some very helpful people within IAES. Dr. Perna is both a neuropsychologist and nurse. He graciously agreed to be interviewed by me and answer several questions regarding both AE and rehab. It is my sincerest hope that you enjoy the interview that follows.
Early Stage Diagnostics and the Relationship to Outcome:
1) Your research has identified four distinct stages of autoimmune encephalitis; how do you expect this evidence to impact clinicians and the accuracy of their decision making? Will this improve the speed of proper diagnosis for AE patients?
Dr. Perna: AE can be divided into phases and the symptoms in each phase may vary significantly. Phase one, often does not cause a constellation of clearly diagnostic symptoms and it may be difficult for a definitive diagnosis at that time. Ideally, a definitive diagnosis is made early in the next phases.
2) Case studies have also illustrated permanent modification to synapses (working memory, cognition, dual tasking etc). What improvements can a patient expect recovering from an acute phase encephalitis? Will these outcomes vary for known and unknown antibodies?
Dr. Perna: Synapses are malleable and plastic, but some people have long lasting symptoms tied to AE/LE related to brain inflammation and resultant atrophy. This is a disorder which has highly variable outcomes, so its hard and potentially highly inaccurate to make generalizations about recovery during the acute phase. That said, most people exhibit less emotionality, better self control, and more ability to complete self-care as they recover from the acute stage. This clearly doesn’t mean people are nearly back to their baseline though they are much more manageable.
3) Importantly, the evidence of these studies has demonstrated the critical need for early detection and proper diagnosis, for long term patient outlook. Do you see this as the significant discrepancy in the divergence of recovery and rehabilitation of autoimmune encephalitis patients, particularly for patients with lingering synaptic modifications and hippocampus impairments?
Dr. Perna: I’m not sure I fully understand the question, but earlier diagnosis usually means earlier and appropriate focused treatment and that usually is associated with more positive outcomes. One plausible reason for this is that the brain inflammation will be reduced sooner, and this will decrease the likelihood that the inflammation will lead to atrophy. The cases I have worked with, in general, have shown a clear pattern of early diagnosis being associated with more positive outcomes. Interestingly, even when diagnosed early, the course of recovery is often not linear and simple.
4) The results from your research have shown a mean age of 23, however there is quite a dispersion in the age of cases outside this median. How does detection protocol change between age groups to ensure proper hospitalization at the critical A/B stage ? Do you expect significantly varied rates of recovery between age groups?
Dr. Perna: Age is a potentially important variable when considering recovery from all types of brain injury. We have something called cerebral/cognitive reserve and this is the brains ability to resume functioning or recovery following neuronal loss or injury. More reserve is strongly associated with more recovery, though is just one of many important variables. In terms of age, young adults have the most reserve and this declines over time. Prior brain health and how well someone functioned before the AE/LE is also associated with reserve, so it’s not just age. Anyway, early diagnosis, appropriate treatment, and ongoing rehabilitation until someone is very functional again is the gold standard.
5) Typical detection of autoimmune encephalitis is done through the CSF fluid with up to 80% patients presenting abnormal levels of an antibody, often when MRI and EEG can be inconclusive. If this is the critical diagnostic marker, what is the correlation between a positive prognosis and a seropositive test result?
Dr. Perna: If CSF testing is done early, is positive for specific antibodies, and the treatment is early and focused then that should be associated with a positive prognosis. However, its not often that simple. The treatment regimes are complicated by medications with various side effects. People often need multiple rounds of treatment.
6) Furthermore, “Rapid diagnosis and Prompt treatment” are considered essential for long term outlook. How does a patient with a known antibody (NMDA for instance) and a tumor compare with a patient with an unknown anti body and without a tumor in long term recovery? If both patients are detected at the early stage in the disease phase would you expect similar outcomes?
Dr. Perna: Great question. I think its not likely they would both be diagnosed as early, but the person with the known tumor (which would be resected) would most likely recover better because of the specific known cause (the tumor) of autoantibodies and perhaps less of a need for immune response. The whole issue of a lesser known or unknown antibody raises the risk of diagnostic and treatment delays, trial and error treatment strategies, and a much less clear expected course of recovery.
Recovery and Relapse:
1) As discussed, there is an increasing number of AE cases, a growing number of antibodies types, and seronegative antibodies. Considering these growing health trends, what is your view on the likelihood and frequency of an AE relapse? Dependent upon antibody (both seropositive and seronegative), timing of diagnosis, promptness of treatment, and ongoing preventive treatment?
Dr. Perna: I believe the research suggests that there is a 10 to 25% relapse rate during the first two years. Relapse may occur from months to years post initial episode for cases of anti-LGI1 or anti-NMDAR encephalitis. Relapses often occur when immunotherapy is reduced or discontinued so the person should be closely monitored at those times.
2) The Hippocampus is often referenced as having lingering impairments, what improvements will a patient see after a strategic rehabilitation plan? Will these outcomes vary for known and unknown antibodies?
Dr. Perna: The hippocampi are often areas of acute brain inflammation in AE/LE. For some people to get reasonably quick treatment they may not develop atrophy/damage to these structures, but other people may develop damage here and this will likely measurably affect their short-term memory. The hippocampi are structures in the brain that have significant neurogenesis, but recovery from an injury to these areas is difficult. Those individuals who have been found to have specific antibodies often do better, but to be honest the empirical research on outcomes is very limited. Even when talking about outcomes, not all outcomes have been well researched for these individuals.
3) Describe your ideal professional expectations, of what patients require to become independent? 85% of patients continue to experience cognitive and behavioral abnormalities at discharge, what is your recommended outpatient support and care?
Dr. Perna: I think every patient with this disorder has a unique recovery course that is much less predictable than other causes of brain injury. As a result, I think care for people with LE/AE needs to be very individualized. Many people are not fully functional after acute care and appear to need some post-acute rehabilitation. This care can be very beneficial but is often prematurely discontinued for a variety of reasons. This fact causes me a lot of concern about the long-term recovery of people with this disorder. Some people clearly need several months or post-acute rehabilitation.
4) A two-year recovery period is often referenced as a guideline for recovering patients, however, it can be very difficult to know the long-term outlook for an autoimmune encephalitis warrior and gauge their ability to return to normal activities. For example: work, study, social, sport. For a patient in the midst of the 2-year recovery, what do you consider to be most productive and beneficial for rehabilitation? How do you suggest patients who have reached the two-year guideline begin to commence a return to normal life activities and still be mindful of their underlying condition?
Dr. Perna: This is a great question. There is good empirical evidence of what can be done to help our brain functioning though many people with AE/LE and many other people are also not doing what’s needed to maximize brain functioning. There is great evidence that physical and cognitive exercise produces measurable benefits to brain health and functioning in a dose-response manner (in general, the more the better). Stress management is also good for brain health and eating a healthy diet has many health benefits as well. So, these should all be part of the persons daily/weekly like, but additionally, they will likely need focused treatment program based on what their specific symptoms are. There are specific rehabilitation exercises for specific impairments. For example, if someone has short—term memory loss, there are internal and external memory strategies that can be practiced and utilized to help the person maximize their recovery. When people leave rehabilitation, they frequently still have symptoms, but often don’t have a good understanding of the exercises they can independently do to further their recovery.
5) What therapies should a patient be targeting in outpatient recovery? Evidence suggests improved results in multi-therapy rehabilitation. Should this be included in all outpatient plans? Typical side effects of AE may include weight gain, working memory difficulties, cognitive deficits etc. How does a patient best strategize a rehab plan, under an individualized symptomatic approach?
Dr. Perna: Multidisciplinary or interdisciplinary treatment involves each therapist working or communicating together to help the patient recovery. That’s the ideal when someone needs multiple disciplines to provide their treatment. Not all outpatient care is that well coordinated. What’s likely most important in outpatient care is that the therapists are working on the goals that are most important to the patient. Also, its important that there be good communication between therapist and patient and whoever the patient lives with or is involved in their care outside of treatment. The most important outcomes concern how well someone is functioning in their home or community, which is not the same as how well they are doing in the treatment facility.
6) AE patients in the last 10 years have benefited significantly, from the growth and acceptance of immunotherapies, importantly rituximab and IVIG. From your research and professional experience, where is the main growth area to further developments in AE therapies?
Dr. Perna: I’m a clinical neuropsychologist and nurse, not a neurologist so I think I will defer on this question to people who have more expertise in this area.
7) At present treatment protocols (rituximab and IVIG) may not be a cure for some, but an effective management tool to stabilize their condition and minimize any exacerbation of symptoms. What do you recommend as effective ways to support these treatments? – specifically patients looking for daily activities to better manage the fluctuations of their condition.
- Regular exercise (healthy weight)
- Set sleep and rests
- Set Routine
- Cognitive challenges
- Meditation/relaxation therapies
Dr. Perna: I will provide a brief response to this question though I believe the aforementioned issues are very important in promoting brain, immune, and overall health. Considerable empirical research suggests that exercise benefits many aspects of our health including the brain and that about four or more hours of exercise per week can often produce measureable benefits to brain functioning and mood management. Adequate sleep and an adequate and balanced diet have also been shown to be very important though these are things that often are not well managed. Having relaxation time or medication can also bestow various health benefits, but unfortunately people don’t always allow themselves time for these activities. Many people mistakenly assume sleep and these other activities are the same and they are not. Your list also includes having routines and structure. These can be very helpful and not only allow people to more efficiently use their time and feels a greater sense of control, but make life feel less chaotic and less stressful. The list also mentions diet and a diet high in certain things may increase risks, for example heavy alcohol or caffeine may since the risk of seizures and a diet heavy is salt and sugar may have a negative effect on the immune system. So, my short answer is that someone trying to recover from AE should take control of all these to optimize their health and give them the best chance to overcome AE.
8) Are you aware of common triggers that may have a negative effect on rehab within AE patients? Should patients actively avoid any activities that can trigger symptoms? Or should they be creating adaptive strategies to manage these potential triggers? – examples: noise, light, screen time, driving, physically exhausting activities etc.
Dr. Perna: This is a complex question in that there are some common triggers for seizures in people with an altered seizure threshold (like many people with AE/LE) and there are some common factors that are associated with relapses and there are factors that negatively affect the bodies immune system and obviously that may affect AE. As for the seizures, some significant triggers are lack of sleep, fatigue, significant stress, alcohol use, heavy caffeine use, and flashing lights. Potential triggers for AE relapses are reducing or discontinuing medications for it.
9) Autoimmune Encephalitis remains a relatively unknown illness amongst the general population, even throughout the medical community. Despite the relative unknowns, do you see rehabilitative connections between AE and other brain injuries as these patients may often encounter similar problems?
Dr. Perna: This is a good question in that AE/LE often causes a brain injury that is (after the acute stage) treatable by many of the same strategies/interventions. However, the onset, initial presentation, waxing and waning of symptoms, exacerbations, and range of psychiatric symptoms make this a much more complex disorder to treat than many of the more common types of brain injury.
10) What therapies used in other neurological conditions and brain injury patients do you consider relevant for autoimmune encephalitis rehabilitation?
Dr. Perna: Once someone has recovered from the acute phase of this disorder, many of the evidence-based rehabilitation strategies used to treat other kinds of brain injury can be very effective. Multidisciplinary rehabilitation involving many hours of cognitive rehabilitation may be necessary. A home safety evaluation, therapeutic driving evaluation, ongoing psychology and psychiatry consultationsand ongoing follow up with the person writing prescriptions
Caregiver Education and Ongoing Support:
1) What would you consider necessary support to family and carers of AE?
Dr. Perna: This is a very important question that I think more people should talk about. What’s tricky about this is that early on many caregivers don’t really understand what they may be in for. I always try to educate the caregivers as much as possible about AE and also about caregiver burden and self-care. I think caregivers often need ongoing support and assistance and I often try to respectfully suggest this.
2) Is there a need for further education, resources and support for families and caregivers?
Dr. Perna: This is a disorder that requires that family receive a significant amount of education. Early appropriate education will allow the person and their caregiver family know what to expect and how to plan.
3) Ideally what would you like to see as the rehabilitative and therapeutic medical standards and expectations for patients when recovering from encephalitis?
Dr. Perna: I think the rehabilitation for these individuals should be more comprehensive and include AE/LE education, counseling, cognitive rehabilitation, and the development of a plan for rehab and also a home exercise and recovery plan.
4) Scientific development over the last decade has made significant progress in terms of identifying and understanding autoimmune encephalitis, as a patient first diagnosed in 2012, I have experienced these remarkable improvements firsthand. There are obviously still a lot of unknowns about the illness, what path does research seem to be following at the moment?
Dr. Perna: It’s hard to talk about the research in a cohesive manner because there are different bodies of research on this condition. Moreover, it takes a long time to collect enough data to have reliable outcomes and this delays publication of findings that may be helpful to people. I am a clinician, and most interested in rehabilitation and trying to get people back to their life activities. There is very limited research concerning these issues since many people run out of insurance funding or stop attending treatment before they fully resume all their instrumental activities of daily living. It looks to me like there is some interesting research on diagnostics and acute treatment strategies and very limited research on rehab and long-term outcome.
5) How do you envision treatment options changing over the next decade?
Dr. Perna: My hope is that the CSF and serum testing will get more specific and efficient at finding autoantibodies and that the medications used for immunotherapy will evolve. For example, B cell depletion therapy sounds like it may have some promise.
Thank you Dr. Perna and Dominic ( + Captain)!
Your generous Donations allow IAES to continue our important work and save lives!
Become an Advocate by sharing your story. It may result in accurate diagnosis for someone suffering right now who is yet to be correctly identified. Submit your story with two photos to IAES@autoimmune-encephalitis.org
International Autoimmune Encephalitis Society (IAES), home of the AEWarrior®, is the only Family/Patient-centered organization that assists members from getting a diagnosis through to recovery and the many challenges experienced in their journey. Your donations are greatly appreciated and are the direct result of IAES’ ability to develop the first product in the world to address the needs of patients, Autoimmune Encephalitis Trivia Playing Cards. Every dollar raised allows us to raise awareness and personally help Patients, Families, and Caregivers through their Journey with AE to ensure that the best outcomes can be reached. Your contribution to our mission will help save lives and improve the quality of life for those impacted by AE.
For those interested in face masks, clothing, mugs, and other merchandise, check out our AE Warrior Store! This online shop was born out of the desire for the AE patient to express their personal pride in fighting such a traumatic disease and the natural desire to spread awareness. Join our AE family and help us continue our mission to support patients, families and caregivers while they walk this difficult journey.