Copies of Victoria Jackson’s book, “The Power of Rare”—about her teenage daughter’s struggle with neuromyelitis optica spectrum disorder (NMOSD)—are distributed at a recent NORD conference in Washington, DC. Credit: Larry Luxner

In the 1990s, California cosmetics mogul Victoria Jackson turned her makeup and beauty care company into a billion-dollar global brand. But the businesswoman’s life changed in 2008 when doctors diagnosed her daughter Ali, then 15, with neuromyelitis optica (NMO) and said she had 4 years to live.

Jackson and her husband, direct marketing tycoon Bill Guthy, immediately established the Guthy-Jackson Charitable Foundation (GJCF) to fund research that could lead to a cure for Ali. In 2019, after having channeled $68 million of their own money to the cause, the couple saw 3 therapies receive approval from the US Food and Drug Administration (FDA).

Their efforts led to the publication of a book, The Power of Rare: Blueprint for a Medical Revolution, that’s been warmly endorsed by a range of Hollywood celebrities including Ellen DeGeneres, Gloria Steinem, Reese Witherspoon, Maria Shriver, and Dustin Hoffman.


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“I have watched for a decade as Victoria Jackson has been funding and creating circles instead of hierarchies and has brought a new and unprecedented collaboration between NMO researchers, drug companies not prone to collaboration, and otherwise isolated patients,” Steinem said of the 288-page book coauthored by Jackson and Michael Yeaman, PhD, chief medical advisor for the GJCF.

Neuromyelitis optica spectrum disorder (NMOSD), a rare autoimmune disease of the central nervous system, usually affects a patient’s optic nerves and spinal cord. The immune system of people with this devastating, lifelong illness mistakenly attacks healthy cells and proteins in the body, causing eye pain and vision loss. Some forms of it were previously known as only neuromyelitis optica.

In NMOSD, the immune system misrecognizes a water channel protein called aquaporin‑4, which is enriched in the central nervous system. When the immune system attacks that protein, it kills cells such as astrocytes and neurons, which ultimately causes demyelination in the brain and spinal cord. That can lead to paralysis and blindness.

According to the FDA, “individuals also can have attacks resulting in transverse myelitis, which often causes numbness, weakness, or paralysis of the arms and legs, along with loss of bladder and bowel control. Most attacks occur in clusters, days to months to years apart, followed by partial recovery during periods of remission.”

The Power of the Patient

In a recent phone interview, Dr. Yeaman—chief of molecular medicine at UCLA’s Geffen School of Medicine in Los Angeles, California—said that when GJCF began, the prevalence of NMOSD was thought to be about 1 in a million. However, it’s now estimated at 1 in 20,000.

Michael Yeaman, PhD. Credit: Guthy-Jackson Charitable Foundation

“We wrote this book together in a way that tries to blend the humanistic aspects of the experience of the journey with NMOSD,” Dr. Yeaman told Rare Disease Advisor. “On top of a blueprint for medical, scientific, and educational advancement, what we really tried to do was illustrate how each individual who has NMOSD has a tremendous power because of their rarity.”

Worldwide, Dr. Yeaman said, the number of people with NMOSD (which also includes myelin oligodendrocyte glycoprotein antibody disease, or MOGAD, and seronegative diseases) is estimated at 373,000. Dr. Yeaman said the reported incidence of NMO and its spectrum disorders have increased 50-fold thanks to science, research, and clinical trials that have vastly increased knowledge about the disease.

“In fact, it’s the concept that rare is the exception that proves the rule that is really brought to light through the book,” he said. “In many ways, that science has advanced not only in the field of NMOSD but also other autoimmune diseases, and how this new understanding can reach into other categories including cancer transplantation and overall immune health.”

Victoria Jackson and Bill Guthy established the Guthy-Jackson Charitable Foundation (GJCF) in 2008 to find a cure for their daughter’s illness. Credit: GJCF

Among other developments:

  • The US National Institutes of Health awarded $17.5 million toward NMOSD research in its 2020 fiscal year, up from only $1.5 million in its 2008 fiscal year.
  • Since 2008, there have been 6794 peer-reviewed researched papers addressing NMOSD. That compares to just 422 prior to 2008. An average of 522 peer-reviewed NMOSD publications have appeared annually since 2008, up from 3.7 per year prior to 2008.
  • The foundation recently completed the enrollment phase of the CIRCLES longitudinal study, which collected 112,439 biospecimens now available for research. At present, 1146 patients and control participants are actively enrolled.
  • So far, 456 NMOSD patients have volunteered for GJCF’s clinical trials.

Research has led to 3 approved therapies for the disease: Alexion’s eculizumab (Soliris®), Horizon Therapeutics’ inebilizumab-cdon (Uplizna®), and Genentech’s satralizumab-mwge (Enspryng®).

An Increasing Body of Knowledge

Chitra Krishnan is executive director of the Siegel Rare Neuroimmune Association (SRNA), a nonprofit formerly known as the Transverse Myelitis Association and based in Powell, Ohio.

In 2001, when Krishnan began working at the Johns Hopkins Transverse Myelitis Center in Baltimore, Maryland, it was the nation’s only center focused on rare neuroimmune disorders. Doctors referred to NMOSD as Devic’s disease—if they had heard of it at all—and a Google search for the illness turned up virtually nothing.

“Back then, we knew so little. But in the last 10 years, with the identification of a biomarker and now 3 therapeutic interventions focused on NMOSD, it’s been an incredible journey,” Krishnan said. “We know so much more, we have better diagnostic tools and therapeutic interventions, and we’re now at a point where all this knowledge can have a tremendous impact on quality of life.”

The SRNA’s director of research and programs, Gabrielle DeFiebre, MPH, was diagnosed in 2009 at the age of 21 with transverse myelitis. She is paralyzed from the waist down and uses a wheelchair.

“We know how hard it is for someone with a rare disease to find a doctor who knows how to treat these conditions, so we provide information and podcasts, and we do a symposium every year,” DeFiebre said. “We also connect people to one another through our support groups, and we conduct a one-on-one mentoring program where we match people by diagnosis and age.”

In all, the SRNA spent $590,000 on programs, research education, and support in 2020, she said.

Unanswered Questions

Women are more likely than men to suffer from NMOSD, and people of African and Hispanic descent are at much greater risk of the disease than are Caucasians.

“We’re trying to understand why this might be, but to date, the origins of NMOSD, that is, what causes it in the first place, is still a mystery,” Dr. Yeaman explained.

He estimated that the United States alone is home to between 30,000 and 40,000 people with the disease.

“However, that might be an underestimate given that many NMOSD patients are misdiagnosed with multiple sclerosis. That’s true around the world as well,” he said.

Dr. Yeaman warmly praised as “NMOSD heroes” the 450 or so patients who participated in the 4 clinical trials that led to the FDA’s approval of the first-ever therapies for the disease.

“When you think about this, 450 individuals volunteering, and knowing they could potentially be in a placebo group, have enabled approved therapies for hundreds of thousands of individuals around the world,” he said. “That’s an incredible story of determination, courage, and altruism.”