Q&A: Importance of Raising Awareness of NMOSD

NMOSD advocates share how their work helps people find the right diagnosis and builds the patient community.

Have you ever heard of neuromyelitis optica spectrum disorder, or NMOSD? NMOSD is considered a rare disease because just 15,000 people in the United States are diagnosed. Historically, NMOSD was thought to affect between one and four in every 100,000 people. Today, it is estimated to affect up to 10 in every 100,000. Innovative research, new diagnostic tests and increased awareness have all contributed to a growing number of diagnoses - but the condition continues to be overlooked and misunderstood.

Is it Multiple Sclerosis or Something Else?

NMOSD is an autoimmune disease involving the central nervous system that primarily affects women in their 30s and 40s. It causes the immune system to mistake proteins in the optic nerves and spinal cord as foreign and targets them with inflammation. As a result, NMOSD can cause severe disability, including blindness, muscle weakness, paralysis, and more. NMOSD shares several symptoms with multiple sclerosis (MS), and many people are often misdiagnosed because the two conditions share some overlapping symptoms, so NMOSD may be more prevalent than we realize. This is why it’s important to raise awareness of how NMOSD differs from MS and encourage people to advocate for their health to find the right diagnosis and early treatment.

We recently spoke with Victoria Jackson, founder of the Guthy-Jackson Charitable Foundation whose daughter Ali was diagnosed with NMOSD at age 14, and Sumaira Ahmed, founder of The Sumaira Foundation, who was diagnosed with NMOSD when she was 25, about their experiences with the disorder and the importance of building community when faced with an NMOSD diagnosis.


Victoria Jackson, Founder, The Guthy-Jackson Charitable Foundation

Victoria: When one person is affected by NMOSD we are all impacted by NMOSD. It is often misdiagnosed and misunderstood. For example, some patients are misdiagnosed with MS, even though they have NMOSD, as they share some similar symptoms. The good news is that there is now a blood test and detailed diagnostic criteria to differentiate NMOSD from MS and other related conditions, such as myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). The autoantibody against aquaporin-4 (AQP4) was discovered in 2004, but recent improvements in the way laboratories can test for it have increased the accuracy of the results. Rapid and accurate diagnosis is key, because some medicines used to treat MS can actually make NMOSD worse.

Sumaira: Because NMOSD is a rare condition, it can be hard to find others going through what you are going through. When I was diagnosed nine years ago, I searched and searched for others with the condition. I even looked for celebrities who might have it. Know that you’re not alone and a community of people are supporting and fighting with you.


Sumaira Ahmed, Founder and Executive Director, The Sumaira Foundation

Victoria: People with NMOSD face unpredictable relapses, which can occur without warning at any given time. This can cause fear and uncertainty. You must make choices about how you are going to live your life. My daughter decided not to let NMOSD define her. Have faith and hope and educate yourself on the condition. It’s so important to maintain a positive attitude and be an advocate for your own health. But beyond your own knowledge, it is essential that the medical community knows NMOSD. An important goal of our work is to inform doctors as well as patients.

Sumaira: Uncontrolled NMOSD has the potential to cause devastating consequences. People with NMOSD may not recover from an attack, leading to irreversible damage. That’s why seeking clinical care as soon as possible to enable diagnosis and treatment is so important.


Victoria: What we thought was an eye issue that would be short-lived and easily remedied turned out to be the first sign of NMOSD. I was told Ali had about four years to live and to enjoy our time together while expecting bouts of blindness and paralysis.

Her out-of-the-blue diagnosis changed everything. Yet, accepting frustration and despair wasn’t an option. When Ali was first diagnosed, we found little information on the condition. I took her to a specialist researching NMOSD and told him, “I’m a mom whose child has this and I’m going to cure it.” I then set up the Guthy-Jackson Charitable Foundation, assembled key stakeholders – people living with NMOSD, caregivers, healthcare professionals, and researchers – and started to fund research to solve the mysteries of NMOSD and pioneer solutions.

Community is also such a critical part of the work that we do. Every year we host an NMOSD Patient Day, bringing patients and their families together to share stories and support each other. It’s an incredible feeling to walk into that room and meet others who can relate to and understand one’s NMOSD journey, it really pulls on your heart strings.

Tree of Life, Guthy-Jackson NMO Patient Day 2019

Partnering to Further Advance NMOSD Care and Treatment

Sumaira: I had my first NMOSD attack in 2014 and was diagnosed six weeks later. I went from being a 25-year-old socialite in Boston, to suddenly being blind, unable to walk, and told I wouldn’t live long. I wasn’t ready to accept that fate – it changed the course of my life.

I mentioned how difficult it was to find anyone with NMOSD when I was first diagnosed. I needed connectivity, community, and support. I googled how to create a foundation to build a community myself – and I had it in place just four months after my diagnosis. I’m proud of what The Sumaira Foundation has become and how our global network supports others living with this condition.


Victoria: We have invested about $75 million into research, catalyzing more than 100 innovative studies to understand NMOSD, identify therapeutic targets and define biomarkers. These efforts enabled clinical trials which led to the development of the first three U.S. Food & Drug Administration (FDA)-approved therapies for NMOSD. None of these were available when Ali was diagnosed in 2008. After over 100 years with no clinical trials or approved treatment, these medicines were all approved within a year of one another, starting in 2019. To do this so quickly was an incredible accomplishment that required every stakeholder’s involvement. But just as important to these achievements was our dedication to always keeping patients first and foremost in our minds.

Sumaira: Since my diagnosis and the founding of The Sumaira Foundation, there have been so many more resources created to help support the NMOSD community, fund research and move the needle on treatment. I believe the key to living with this condition is community, and that if we all work together, we’ll find a cure someday.


Victoria: The head of our scientific team always says, “Hope without a plan is really just a wish.” The plan right now is to find more therapies and, ultimately, a cure. Our foundation and the community – so brave with so many heroes – will carry the light forward until a cure is found. And even though our mission today is focused on NMOSD, the science of predicting and stopping relapses and the medicine to cure NMOSD through tolerization we are leading today is opening doors to help cure all autoimmune diseases tomorrow.

Sumaira: Getting diagnosed today is very different from when I was diagnosed. It is exciting to see how far we have come. I’ve seen all this happen in just nine years since my diagnosis. Imagine what will happen in the next nine – hopefully a cure – the future is bright.

To learn more about the work that Victoria and Sumaira do, you can visit The Guthy-Jackson Charitable Foundation and The Sumaira Foundation, respectively. You can also learn more about other NMOSD advocacy groups here.