Dr. Farrah Mateen’s NMO Story – A Global Perspective on NMO

Like many physician-researchers in my field, I spend a lot of time thinking about NMO, both inside and outside of the clinic.

The science of NMO is fascinating to me and I have been very excited to see how much the field has changed over the past decade. I have been inspired by many patients along the way, and I consider each of them essential in the fight to understand, treat, and one day cure NMO.  

I interviewed for my neurology residency when the aquaporin-4 antibody was being described and understood as an important piece of the puzzle of NMO. I wanted to become a neurologist because of the importance of diagnosis to the field and the careful work a neurologist must do to understand what the diagnosis is, even with incomplete information on the nervous system. The emerging treatment options coming through the “therapeutic pipeline” for several neurological diseases were also very encouraging to me and remain so.  NMO was being recognized as a distinct entity with a new and accurate biomarker that could be tested in the blood. That has changed the way we understand and think about the pathogenesis and treatment of NMO over time.

After my residency in neurology, I studied NMO during my neuroimmunology fellowship and pursued a PhD in International Health Epidemiology. Over time, I moved from being a helper and collaborator on NMO studies to also designing and developing my own studies.  Now, as faculty at Massachusetts General Hospital, I pursue both research and advocacy for NMO.

I am originally from Saskatchewan, in Canada, where there are many First Nations communities.  It is widely thought that First Nations communities are at a lower risk of multiple sclerosis and at a higher risk of NMO. This is also true in other populations globally. The reasons remain unclear, but there are clues to NMO right in front of us but we still need to put them all together across populations.

Presently, I am working on several intersecting lines of investigation. I have mentored a graduate student, named Diederik Koelman from the Academic Medical Center in Amsterdam to work on a large multi-center study of fulminant demyelinating diseases, originally diagnosed as ADEM (acute disseminated encephalomyelitis). In some cases, patients were ultimately diagnosed with NMO through later antibody discovery. I have also been very excited about new research ideas based on the inspiration of a patient story or sequence of events.  These cases become part of the published understanding of NMO.

Most recently, a project that I am very excited about is a Global Atlas of Availability and Affordability of NMO Testing and Treatment. This project was funded by The Sumaira Foundation for NMO and I am pleased to say the results we found could serve as a platform for advocacy for NMO research and care delivery to some of our poorest patients with NMO worldwide.

Every time I travel to a lower income setting, where I work closely with collaborators, I encounter a patient who has a history of transverse myelitis or blindness and who I suspect has NMO.  However, testing for the requisite antibodies isn’t possible and the imaging is expensive or impossible. I am certain there are many people with NMO who don’t know they have it or what the diagnosis is in many countries.  I also hope to continue my work in NMO by extending the major progress achieved by NMO research and treatment in the USA and higher income countries to these patients in low income settings. In some cases, patients move to rehabilitation measures without a diagnosis and that can be difficult for families. When there are few resources for people with NMO, we need to think highly creatively – focusing on aquatherapy in the ocean for post-myelitis patients for coastal towns and working with philanthropic partners to get an aquaporin-4 testing facilely in locations without central labs.

I am proud to work with the Boston-based Sumaira Foundation team on the Global Atlas project, and the work they have done to date is very impressive to me.  

I hope my voice is one of the many that continues to illuminate NMO.

Farrah Mateen, MD, PhD is a neurologist at Massachusetts General Hospital, Principal Investigator: Global Neurology Research Group, Associate Professor, Massachusetts General Hospital & Harvard Medical School

Published February 27, 2019