As we look to the future, it is essential to examine current impediments to improved patient care and recovery. Though any disease takes a toll on its patient community, AE patients are presented with particular challenges unique to rare disease. For example, the financial burden of AE on those diagnosed with the condition is not only substantial but often misunderstood even within the medical community. Patients frequently struggle to find local physicians familiar with the disease, much less able to treat it. Inevitably patients deal with logistical challenges in accessing qualified specialists and ongoing care via remote centers and professionals. The need for travel, alone, can present a significant financial burden, and treatment often requires a frequency that complicates these patients’ lives and magnifies their stress in seeking and maintaining necessary care.
Rare disease patients like those suffering from AE need access to affordable and accessible health care coverage to maintain their health. More than 95% of rare disease patients lack an FDA-approved treatment for their condition, and AE is no different. All too often, AE patients struggle with insurance coverage for off-label use of certain medications or treatments often characterized as experimental by insurance providers. In the absence of insurance coverage, the high out-of-pocket cost of some of these drugs can impede access for the AE patient. Not only is it important to address the affordability of medicines and other medically necessary treatments for AE, it is imperative that we work toward insurance reforms to alleviate the burden placed on our patient community.
In addition to the significant impact AE has on the patients suffering from it, healthcare systems deal with a serious disease burden. An estimated 55% of AE patients are admitted to intensive care units in the US. These patients require significant inpatient health care resources. Those admitted to the ICU account for a substantially higher financial burden on hospitals than those non-ICU admitted patients. This data underscores the need to develop novel diagnostic and therapeutic modalities to improve patient outcomes and decrease hospital burden in AE.
Unlike many diseases that have developed comprehensive frameworks of institutional support, expertise, funding, and research partnership, AE is in the early stages of building a disease management and research infrastructure. Developing a comprehensive community of clinicians and researchers with shared interests and aligned vision is a critical building block in this effort. Investment in communication and partnership platforms is imperative in developing multi-institutional collaboration that catapult disease diagnosis, treatment, and recovery protocols.
I believe that the next few years will witness the first randomized clinical trials in AE mirroring the recent trials in neuromyelitis optica – a related antibody-mediated neurological disorder. I envision several multicenter international collaborations testing different immunotherapeutic agents and evaluating outcome predictors in AE. I’m also hoping for a bigger focus on residual symptoms and long-term management of AE, including a better understanding of rates and predictors of recurrence. I also believe that newer antibodies will continue to be unveiled in patients with seronegative AE.
– Dr. Hesham Abboud
Among the many needs of the AE medical community is a comprehensive multi-center biorepository to collect and store relevant biomaterials such as serum and cerebrospinal fluid useful in identifying novel biomarkers and accurately diagnosing patients without biomarkers. Technology is in place to evaluate serum and cerebrospinal fluid. Still, in the absence of a comprehensive system for collecting and storing these biomaterials, each institution involved in treating or researching AE is frequently limited to the samples collected in their patient groups. Currently, the most extensive collection of AE related biospecimens is housed at the Mayo Clinic.
If the objective is to identify novel biomarkers and to be able to make more accurate diagnosis in patients that present with encephalitis that are negative for antibodies, discovery is generally built upon biorepository infrastructure… The potential to fund a biorepository – the collection of samples – would be revolutionary. Remember these are rare diseases. It’s not like we are focusing on patients with Alzheimer’s where we can collect hundreds of samples from the five counties surrounding. These are rare diseases where only one patient may turn up in the course of a year.
– Dr. Sean Pittock
Equally critical to the advancement of research in AE is developing a comprehensive patient registry from which to build a natural history study. A natural history study is a specific kind of patient registry that uses information collected to describe the disease over time, identify demographic, genetic, environmental and other variables that are associated with the disease, and define the disease population, including a description of the full range of disease manifestations and subtypes.
Natural History of Disease
The natural course of a disease from the time immediately prior to its inception, progressing through its pre-symptomatic phase and different clinical stages to the point where it has ended and the patient is either cured, chronically disabled, or dead without external intervention. Posada de la Paz M; Groft SC Adv Exp Med Biol 2010; 686: 3-14
There are many beneficial uses for a natural history study. Perhaps the most compelling of these is its significance in examining patient care and outcomes and identifying research priorities. A natural history study contributes to understanding a disease, to inform patient care and best practices, and assess patient and caregiver experiences and preferences. It also helps estimate the number of affected patients with a disease and those available to participate in research. And a natural history study provides essential information in evaluating the individual and global economic burden of disease.
A natural history study can be an important element in facilitating NIH funding for research so critical in changing this disease’s trajectory. Further, information obtained from a natural history study plays a vital role in every stage of drug development, from drug discovery to the design of clinical trials intended to support approval of a drug. While there are several institutional efforts to develop local AE patient registries, a nationwide registry to establish a natural history study has yet to be achieved. This is a critical initiative in building the infrastructure needed for patient care, disease management, and AE research.
Finally, patients living with AE may require ongoing support for their disease long after their treatments. Patients may need rehabilitation services or disability assistance. Services from an occupational or physical therapist, speech pathologist, psychiatrist or neuropsychologist, and other specialized rehabilitation areas may be useful to an AE patient in recovery. And following recovery, developing healthy survivorship skills is imperative.
Given the severity of the disease, patients recover very well. However, we should not be satisfied too soon and aim for better recovery, not only with immunotherapy and other treatments, but also with better rehab programs aimed at disabilities in real life.
– Dr. Maarten Titulaer
Good nutrition, exercise, naturopathic and complementary therapies are all tools in the toolkit. Health coaching is a rapidly developing field that compliments and supports the ongoing wellness of individuals seeking to make long-lasting, meaningful steps towards overall health and self-care. Making lifestyle changes to support health and wellness is an important focus that is all too often overlooked in an AE patient’s care.
Changing health behaviors is challenging, but wellness coaching can help patients identify manageable ways to improve them. – Dr. Russell Phillips, Director of the Center for Primary Care at Harvard Medical School.