Stronger Together: Connecting the Rare Neuroimmune Disorders

We are all stronger together. But what does that mean, and why does it matter? One of the things that sets SRNA apart is our effort to be inclusive and welcoming to everyone impacted by rare neuroimmune disorders, including Acute Disseminated Encephalomyelitis (ADEM), Acute Flaccid Myelitis (AFM), MOG Antibody Disease (MOGAD), Neuromyelitis Optica Spectrum Disorder (NMOSD), Optic Neuritis (ON) and Transverse Myelitis (TM). The words and letters we use to name these disorders may feel distinct and unrelated, and it can be challenging to understand how they are all connected.

At the foundation, these are neuroimmune disorders of the central nervous system – the brain, spinal cord, and optic nerve. Each of these conditions is rare, which in the United States means the condition impacts less than 200,000, or in the European Union, a rare disease is one that affects no more than 1 person in 2,000. Beyond these simple facts, there is a lot of overlap, including many of the symptoms, etiology, and continuing management for those with a rare neuroimmune diagnosis.

Grouping these conditions together is incredibly helpful in the diagnostic journey, or pathway to receiving a diagnosis. A patient’s journey to a rare diagnosis can vary and depend on a range of factors – location, access to specialists, healthcare coverage, proximity to acute and rehabilitation facilities, awareness of the symptoms and treatments, and other factors. Covering all these disorders together is incredibly helpful in enabling us to help patients seek the most accurate diagnosis possible. Someone may reach out and inform us that they’ve recently been diagnosed with TM, but among their symptoms is visual issues. We can support them with information about Optic Neuritis and related conditions that they can use to evaluate whether further investigation with their medical provider is needed. Assisting the rare neuroimmune community with efficient and medically accurate information can make a huge difference in pointing them toward better treatments and more helpful guidance on recovery.

For some of these conditions, the exact same organ or part of the body is affected by the same impact on the spinal cord due to an attack triggered by the immune system. The main difference between the two may be the ability to name the exact antibody in one person and not the other, while acute treatments for both might be the same. Beyond diagnosis, everyone can benefit from coming together and sharing about their experiences. People with ADEM, AFM, MOGAD, NMOSD, ON, and TM can join a support group and all connect on how they manage different symptoms that they all share in common. This same group of people might be seeing the same healthcare providers, or types of healthcare providers, because many treatments and specialists are the same across these diagnoses. Those with relapsing conditions might discuss the ways they evaluate the difference between a relapse and worsening symptoms, and the accompanying anxiety that may arise. Ultimately, many people diagnosed with a rare neuroimmune disorder, or their care partners, can connect over the experience of having a rare condition that few have heard of and even fewer deeply understand.

When it comes to rare diseases, there is strength in numbers for conducting research to better understand the causes, treatments, and recovery for each of these disorders.
By researching rare neuroimmune conditions together, we can collect more meaningful data and understand better for the next generation of patients affected by similar disorders and symptoms. There is a web of ways that these disorders are interconnected, and we are always seeking to understand them more deeply through our efforts with the SRNA Registry and other research. We can go further in research if we have more people involved. In a talk from our Rare Neuroimmune Disorders Symposium in 2019, Dr. Greenberg described the importance of including everyone in studies on these disorders. In it, he described ways that silos can result when patients are diagnosed with a specific disorder. A provider may diagnose someone with TM and refrain from digging deeper into any other possibilities. In research, Dr. Greenberg pointed out that including everyone in studies on rare neuroimmune disorders improves the quality of the analysis. For example, in studies on NMOSD, it was essential to include those with a TM diagnosis to help determine if the AQP4 antibody was actually connected to the disease. As Dr. Greenberg said, “including patients under a big tent changes our understanding of the disease.”

We have not always had the words to differentiate these conditions, and over the years we have learned about NMOSD, MOGAD, AFM, and others. Perhaps in the years to come, we will expand even further beyond the six diagnoses as we research and learn about different names for the medical conditions that impact our community. SRNA founder and board president Sandy Siegel said it best when he described the importance of including ADEM, AFM, MOGAD, NMOSD, ON, and TM under one umbrella: “Together we are stronger, because education, support, clinical care, and research are more effective by sharing experiences, knowledge, and the power of numbers.”