President’s Column

The Siegel Rare Neuroimmune Association has always been about connecting people, offering care, and seeking a cure. In the previous magazines this year of our 30th anniversary, we’ve discussed both the connecting and caring in our mission. In this issue of the magazine, we will address the most difficult and, perhaps, consequential aspect to our mission: finding a cure for these disorders.

What does a cure for ADEM, AFM, MOGAD, NMOSD, ON, and TM really mean? From my perspective, a cure means that inflammatory attacks never happen. Period. Medicine assumes that people who have any autoimmune disorder possess a genetic predisposition to autoimmunity. Having an inflammatory attack means that the person possessed the genes in combination with exposure to environmental factors. There is an assumption that for a person to have an autoimmune disorder, they would have to possess the genetics that predispose them for autoimmunity and be exposed to certain environmental factors. As to the environmental factors that could be involved, we know very little.

Autoimmunity comes in numerous forms, depending on the parts of the body involved. In the case of our rare neuroimmune disorders, the immune system becomes dysfunctional and attacks the central nervous system.

So, what genes or gene mutations are involved? We don’t know it all. There is research being done, including the work of neuroimmunolgist, Dr. Michael Levy at MGH. Through this research, a mutation of the gene VPS37A has been found to be linked to transverse myelitis. SRNA has been supporting Dr. Levy’s important work. But his work is at the early stages. It is safe to say that today, we don’t understand the genetics of autoimmunity for any of our rare neuroimmune disorders.

A possible cure for the rare neuroimmune disorders might involve the screening of infants for the genetics for autoimmunity and then some medical intervention to in some way alter those genes to make them harmless. I can imagine this happening. I can also imagine world peace. This cure and world peace are not going to happen tomorrow.

So, the cure is not imminent. But that doesn’t mean that research isn’t critically important. We initiated two important programs to pursue research on the rare neuroimmune disorders. The James T. Lubin Fellowship is designed to train clinician-scientists in our discipline. There is both a clinical and research component to the fellowship. The fellows submit a research project to conduct during their two-year training, with the hopes that they will pursue research as a part of their medical careers. We also established the Pauline H. Siegel Eclipse Fund for Research after Pauline died. Pauline was a strong advocate for research on our disorders and she was always hopeful about how this research would result in improved quality of life for herself and for people in our community.

While the cure for these disorders isn’t on the horizon, there is so much important work that needs to be done and is happening across many academic institutions. While the Q cell trial to remyelinate the spinal cord currently being conducted by Dr. Ben Greenberg isn’t a cure, it has the great potential for significant quality of life benefits for people who have experienced a demyelinating attack in their spinal cord. At its most significant potential, it could possibly improve all of the symptoms that emanate from this damage to the cord.

We need to better understand the acute treatments for these disorders. If we could more effectively arrest the inflammatory attack, we would minimize the damage done in the central nervous system. We don’t understand all these disorders well enough to target the culprits that cause the inflammatory attack. We need more basic research to understand these disorders, and we need to find the targets for treatment. Better understanding the disorders would also result in more effective long term therapies for the recurrent disorders. So far, some significant strides in long-term therapies have been developed for NMOSD and MOGAD, both of which are relapsing conditions. Use of these therapies has been relatively effective in preventing relapse for those with these rare neuroimmune disorders, with 4 FDA-approved therapies for NMOSD specifically releasing to the market in the last decade, and long-term treatments in trial for MOGAD.

We also need to find more effective ways to treat all the very complicated symptoms from these disorders. There are too many people who suffer from nerve pain who never find an adequate treatment. The same can be said for people who have bowel and bladder dysfunction or depression or blindness or fatigue. There are so many issues, including cognitive and behavioral problems, that are not fully understood. Research on symptom management specifically related to the rare neuroimmune disorders is underway in some academic institutions, and a lot more investment is needed.

The burdens of the financial, social and psychological issues that are associated with the rare neuroimmune disorders are understood only through anecdotal experience. These issues involve the most intimate kinds of quality-of-life problems for people, and much more research needs to be done.

When Pauline and I first began this work, we knew that research needed to be done. We didn’t know what specific research needed to be accomplished and we didn’t know a single human being who might do it. That world has changed dramatically. I could create a long list of research projects that need to be done, and I’m a cultural anthropologist. As to the researchers, the SRNA now has an extensive network of clinician-researchers, a number of which we’ve supported in their training. We know who would do this work, and I know how to find most of them.

So, why doesn’t all this important work happen now? The largest funder of medical research is the federal government. Our disorders have received a relatively negligible amount of federal funding. First, we’re very rare and second, the competition for these dollars is fierce. The surest way for our organization to make this research happen would be for us to fund it ourselves. Thus, the difference between what research we would like to see happen, and what actually happens is money. That is the reason I am regularly involved in making the case for financial support from our community.

If you can, please do. If you can’t, please ask your family and friends to support your cause. You can designate your donations to either the James T. Lubin Fellowship or to the Pauline H. Siegel Eclipse Fund for Research. Either of these programs will support research on rare neuroimmune disorders. To see some of the recent research we’ve been able to accomplish through our members’ donations, click here.

Thank you so much for all of your support and generosity on this remarkable 30 year journey.

Please take care of yourselves and each other.
Sandy