Creating Community in Rare Disease

Imagine waking up to experience vision impairment or numbness in your arms and legs, and then going to see a doctor only to find they’re unsure of your diagnosis. This is a common experience for people living with neuromyelitis optica spectrum disorder, or NMOSD, a rare, lifelong and debilitating autoimmune disease that attacks the optic nerves and spinal cord. Affecting up to 15,000 people in the United States and 200,000 people worldwide, it is often misdiagnosed and misunderstood, and until recently, not widely researched.

But over the past several years, NMOSD advocacy groups have brought attention to the disorder. These organizations have played a critical role in creating a community that supports people living with NMOSD, collaborating with academia and industry to drive research, and educating health care professionals and the public about what people living with the condition experience.

“Advocacy groups provide a window into patients’ experiences so that we better understand their perspectives and needs, and helps people living with these conditions find a sense of community,” says Sonali Chopra, Genentech’s Director of Patient Advocacy Relations. “These groups keep us living our principle of always putting patients first.”

Advocacy groups are particularly important for people living with rare diseases. “People with rare diseases, through advocacy groups, have become experts in their diseases, and are very interested in learning from manufacturers,” Sonali says. Genentech works with these groups by offering financial grants to support educational programs and resources, participating in conferences and events, and sharing information about our support services to help people ensure people have access to the medicines they’re prescribed.”

The NMOSD advocacy groups are especially collaborative with each other to support the needs of the community. “These groups focus on things they do best, so patients know which group to turn to when they need research, patient support, or want to get involved in political advocacy.”

The Guthy-Jackson Charitable Foundation

Victoria Jackson, once head of a successful cosmetics brand, pivoted “from mascara to medicine,” as she puts it, when her daughter, Ali, was diagnosed with NMOSD in 2008. Victoria found little information on the disease. She took Ali to a specialist in autoimmune diseases who was doing research on NMOSD. “I'm a mom whose child has this and I'm going to cure it,” she told him. “We're going to be working together.”

Victoria Jackson has been instrumental in connecting people living with NMOSD, scientists, and researchers worldwide to help find a treatment.

Victoria set up the foundation, funded with her husband, Bill Guthy. “At the time there were no treatments, no clinical trials, and no advocacy groups for people with NMOSD,” she says. She wanted to bring people with NMOSD worldwide together for educational conferences, and to build a biological repository of samples from them to help researchers. “You can't cure a disease without the people who have it,” Victoria says. The foundation supports innovative research and partnerships to push forward promising treatments. Victoria hopes their research will not only benefit people with NMOSD, but expand the understanding of other autoimmune diseases. “Everything is about results and collaboration, which are critical for success.”

The Sumaira Foundation

Sumaira Ahmed has brought together people living with NMOSD for support and education, connecting them to an online community through social media.

When she was 25 years old, Sumaira Ahmed was in the hospital enduring an NMOSD attack when she got the news that she had been crowned Miss Bangladesh USA. “It was bizarre,” she says. “I was sick, balding, having thoughts of suicide, and just had an injection in my eye.” The day before, because of her relapse, she’d had to cancel a bucket-list trip abroad she’d wanted to take while she felt she still had time. Her bags were packed, but she went to the hospital instead. “I hit rock bottom.”

But she was unwilling to give up. “I knew there had to be something I could do to help,” she says. “There had to be other patients like me."

That’s when she decided to start a foundation for people living with NMOSD. “Now I have a community of patients who are supporting me, and people all around the world whose fight is now my fight,” Sumaira says. Her goal for the foundation was to build a supportive community for patients and caregivers, through social media events, conferences, and a podcast. She’s also focused on educating the medical community, since, as with many people with NMOSD, it took a long time and some medical misfires to correctly diagnose her condition. “We want to educate doctors so people with NMOSD can be treated as soon as possible.”

For Sumaira, the key to living with the disease is community. “I’m convinced that if we all work together, we'll find a cure someday.”

The Connor B. Judge Foundation

The Connor B Judge Foundation strives to share a positive outlook and optimism with those battling rare diseases.

In 2014, at the age of 22, Connor Judge, who had always been healthy and athletic, suffered a severe attack of NMOSD that left him blind and paralyzed from the waist down. Eventually, with intense physical therapy–and determination–he recovered both his eyesight and his ability to walk. However, Connor, like many others living with NMOSD, still endures daily neuropathic pain and complications related to the disease.

His mother, Pam, frustrated with the lack of information about the disorder, started a foundation. “We felt an obligation to promote awareness and more biomedical research focusing on the disease,” she says. “Connor has been optimistic throughout this, calling himself the ‘confident cripple,’ and we want to spread his positivity.”

Today, Pam is dedicated to sharing Connor’s positive outlook with others battling rare diseases. Her mission for the foundation is to spread understanding of NMOSD and autoimmunity, and implement a stronger approach to NMOSD treatment, all while creating a greater stride toward a cure. The foundation continues to drive fundraising efforts to help find a cure and has partnered with other NMOSD advocacy groups on several projects, including educational podcasts created with both The Sumaira Foundation and Siegel Rare Neuroimmune Association, to continue to increase awareness of the condition.

The family’s efforts have paid off for Connor and many others. Connor’s sister, Chelsey, is a Ph.D. immunologist who has been a liaison with the medical community. “Compared to when we started, there is much more understanding of NMOSD in the medical community,” she says. With her scientific background, Chelsey was able to encourage Connor to enroll in a clinical trial for a new treatment for the disease. “He’s able to work part-time with his disability, and he’s in a good place, both clinically and personally.”

Siegel Rare Neuroimmune Association

The Siegel Rare Neuroimmune Association focuses on educating neuroimmune disease communities to help create an accurate understanding of the science behind these conditions.

In 1994, Pauline Siegel, a 35-year-old kindergarten teacher, suffered an attack that left her lower body paralyzed. She was diagnosed with transverse myelitis, a rare neuroimmune disease. Her husband, anthropologist Sandy Siegel, set out to research the disease. “In 1994 there was no research on transverse myelitis, so it was a wasteland for us.” When he found a family in Tacoma, Washington whose 18-month-old had the same diagnoses, they founded the Transverse Myelitis Association, now known as the Siegel Rare Neuroimmune Association (SRNA).

The association, which has focused on improving education, research, awareness and diagnosis of neuroimmune diseases such as NMOSD, has grown over the years to 13,000 people from more than 80 countries. “By cross-pollinating the medical understanding of all of these autoimmune disorders, we're helping to understand more about each of them, and help people get an accurate diagnosis as early as possible, which is very important for their overall course of care,” says Sandy.

“Our core mission is educating the community–those who have been diagnosed, families, caregivers, medical professionals–to provide an accurate understanding of the science as it evolves,” says Chitra Krishnan, SRNA’s executive director.

As a result of the work of all these advocacy organizations and their partners, Chitra says great strides have been made in treating these diseases. “We understand so much more than we did 20 years ago–how to prevent relapses, maintain function, and now there are therapies,” she says. “The one thing people who are diagnosed today should hear is that the future is hopeful and strong.”