Nov. 2, 2015
TOPIC: Featured News
Posted by Lisa Sencen
The Guthy-Jackson Charitable Foundation (GJCF) is dedicated to funding basic science research to find answers that will lead to the prevention, clinical treatment programs and a potential cure for Neuromyelitis Optica Spectrum Disorder (NMO/NMOSD).
A rare orphan disease, individuals with NMO develop optic neuritis (ON), which causes pain in the eye and vision loss, and transverse myelitis (TM), which causes weakness, numbness, and sometimes paralysis of the arms and legs, along with sensory disturbances and loss of bladder and bowel control.
NMO has been reported to be misdiagnosed as multiple sclerosis (MS), and has also been reported to be diagnosed in people with lupus, Sjögren’s, and other autoimmune diseases.
For those who want to donate to NMO research, we dedicate 100 percent of all funding gifts to basic science research. Click here to find out more about NMO and GJCF.
1.) What does it mean to you personally to be a patient organization serving the rare community?
The decision to create The Guthy – Jackson Charitble Foundation came from a personal family crisis. In June 2008, Ali Guthy, daughter of Victoria Jackson and Bill Guthy, was officially diagnosed with Neuromyelitis Optica Spectrum Disorder (NMO / NMOSD). Searching for a cure for Ali means searching for a cure for everyone living with NMO.
Howard Weiner, M.D., who is a Professor of Neurology, at Harvard’s Brigham and Women’s Hospital says, “A disease may be rare, but if it’s in your family it’s not very rare.”
As a small team with a big responsibility, we have the privileged opportunity to make a positive impact for NMO patients. Not one day goes by when we don’t appreciate the importance of our role. We are in contact with many people who are in difficult situations because of NMO. Yet, amidst the struggle, we have the rare chance to see so much courage displayed by the entire community. Serving such an impressive and inspiring group of people is an incredible experience for us.
2.) What do you find your patient community values most from your organization?
Our primary mission is to fund research to find the ultimate answer to NMO: a cure. We have invested $40 million, funded 50 research projects, and established the only NMO-dedicated biorepository supporting scientific and clinical research, as well as other projects dedicated to NMO research.
We are also committed to providing information about and resources for NMO. We host annual international Roundtable Conferences, Patient Days and Symposia. We sponsor an International Clinical Consortium (ICC) and an International Panel on NMO Diagnosis (IPND). Our website offers information about NMO, along with an online media library featuring NMO research papers and abstracts, over 100 videos, literature, and ways to advocate for NMO.
Our resources and events offer information and unique insight to NMO that never existed. We receive emails and calls from people all over the world letting us know that we give them hope. Simply knowing we exist, that people are not alone on their journeys with NMO, gives strength and determination to keep fighting. They know we’ve brought NMO research back to life, and we’ve been told that where they had lost hope, their hope is renewed.
3.) What are some of the challenges your organization has faced?
When we started in 2008, we had to build from the ground up. There wasn’t a centralized source of information, and research was as rare as the disease. Simply finding clinicians or researchers who knew anything about NMO proved extremely challenging. Patients were fragmented, living in pockets, separated by its rarity and lack of support. We have had a global vision: to foster a working environment to work toward finding a cure, while ensuring the science was critical path. To accomplish this, we had to find clinicians and researchers, gain their trust and provide opportunities for them to work with each other. We provided the springboard to unify patient communities worldwide, while offering them unique access to expert NMO researchers and clinicians.
Diagnosing NMO is not easy. In fact, research is developing at an accelerated rate. Recently, the diagnostic criteria was recently updated by an International Panel of NMO Diagnosis made up of 18 NMO experts from around the world. Mayo Clinic clinicians Drs. Dean Wingerchuk and Brian Weinshenker state that “it is likely that compared to using previous NMO criteria, the incidence and prevalence of NMOSD will roughly double the number of patients with NMO-like illness.”
NMO is a tough disease. Symptoms can develop over a period of just a few hours, leaving people blind, paralyzed, or both. The sense of urgency is palpable throughout the entire community. Patients need to receive proper diagnoses and appropriate treatment in order to increase the chances of best possible outcomes.
There are still many medical professionals who have not heard of NMO and don’t know how to diagnose, much less treat it. Until recently, NMO was thought to be a variation of MS. However, recent discoveries indicate that NMO and MS are distinct diseases. Many still do not know that there is a biomarker test for NMO called the NMO Immunoglobulin Antibody test (NMO-IgG) that clinicians can order. We’re faced with the challenge of educating the medical community about NMO. Many NMO Advocates have joined the cause educating clinicians, nurses and physical therapists all over the world.
We still have a long way to go in this disease regarding research and advocacy, and we face each challenge with one foot in front of the other, staying the course to a cure.
4.) What has been your most successful awareness campaign and/or fundraising event?
When we established our foundation, NMO was largely referred to as Devic’s Disease, and the research landscape was nearly barren. We needed to ignite scientific discovery to make a meaningful impact for NMO patients. Forward progress in the labs meant forward progress for the disease. To that end, we didn’t begin with advocacy, we began targeting clinicians and researchers. We hosted our first NMO Roundtable Conference just five months after we were up and running. It was in a small conference room in Los Angeles, CA, with about 30 attendees, only half of which were actual researchers and clinicians. These NMO and MS experts from all over the US were in the same room talking with each other, starting the process of working together. Some of them had heard of each other, but had never met before. That meeting created the spark of research possibilities for NMO and established us as a foundation dedicated to curing this disease.
In 2009, we hosted our first NMO Patient Day that aimed at educating the patient community about the latest basic science and medical research. It was the first time people living with NMO had ever met others with NMO, offering day-long access to dialogue with NMO experts. It was very emotional for everyone in the room.
Those first conferences marked a new beginning for the entire NMO community. We think of NMO as “the little disease that could.”
5.) Do you have any stories from NMO patients that you would like to share?
There are so many courageous and amazing people who face NMO who are not just surviving, but really living with the disease and making life work for the better. They range from patients and caregivers to family and friends. Our website features inspiring stories of the NMO experience.