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As the founder of a healthcare charity, the Stem for Life Foundation, I am filled with awe and hope at the remarkable success of the Ice Bucket Challenge and Stand Up to Cancer. Taken together, these events have raised well over $200 million for their causes in recent months alone, providing needed funds for finding and developing cures for ALS and cancer, respectively.
 
As a whole array of new challenges spread across social media, I think it’s important to reflect on this transcendent moment in time. First and foremost, the success of both of these events offers hard proof that in today’s fast-paced, consumer-centered world, we all care deeply about one another — and, given the right opportunity, we will step forward to help those in need. The Ice Bucket Challenge, in particular, is uniquely democratic in its appeal. Rich and poor, famous and obscure, and people of every age, race and religion got involved in this remarkable cause. Facebook reports that over 2.4 million Ice Bucket Challenge videos have been shared on their platform to date, while YouTube has over 2.3 million of their own. Whole companies, whole families and countless celebrities — whether Bill Gates, Lady Gaga or David Beckham — took the plunge.
 
I’ve heard some argue that there was a “guilt factor” involved with the Ice Bucket Challenge. These naysayers claim that many gave because they were shamed into doing so. And while I understand how some might arrive at this conclusion, I simply do not agree with it. In my mind, it was those videos. It was seeing real people, no matter their station in life, step forward, one after another, and do something good for their fellow man. Some videos made us laugh; others made us cry. And in the end, they triggered a feeling of community. We wanted to be part of something that was beyond us. And I think you can find a similar appeal in Stand Up to Cancer.
 
Stand Up to Cancer’s first big TV telethon came in 2008 and generated over $100 million for translational cancer research, and their recent September event repeated that milestone. Nobody was shamed into giving to Stand Up to Cancer. Cancer touches everyone, and this remarkable organization succeeds because they remind us of this fact in a uniquely personal way. Indeed, one out every two men, and one out of every three women, will get cancer in their lifetime. So if not ourselves, cancer will surely touch someone we love. Stand Up to Cancer succeeds because they remind us that suffering from cancer is near and dear, and that, like the Ice Bucket Challenge, we can get involved.
 
In the end, I think there’s a remarkable ice-bucket halo effect rippling across social media, one that is truly exciting for anyone who runs a healthcare charity. Every single day I see a new healthcare challenge popping up somewhere. People are inspired. They feel connected like never before. And whether we’re talking about a disease like cancer that affects us all or a rarer one like ALS, they now understand that by getting involved and collaborating, we can try to create the cures the world desperately needs.

Each year in the United States four million babies are born. Each birth is a time of great rapture and joy because of the tremendous amount of love and laughter an infant brings into one’s life. There’s nothing quite like looking at your baby and marveling at this miracle of life.
 
For some new parents, however, this ultimate happiness in soon tinged with great sorrow. About 3 percent, or 120,000 babies, will be diagnosed with a disorder that is caused by a mutation in a single gene. In the United States, newborns are screened for upwards of 50 different severe single cell disorders, which leads to immediate treatment for about 5,000 babies. But there are more than 1,000 genetic disorders that have already been described, some that are not so well described, and we still don’t have the means to screen for most of these.
 
“We call these rare ailments “orphans,” because they occur so infrequently. These diseases represent a massive collection of disorders that afflict fewer than 200,000 individuals for any single ailment,” says Stephen Groft, a key figure in revolutionizing the care and research of uncommon diseases when he directed the Office of Rare Disease Research (ORDR) in the National Center for Advancing Translational Sciences at the National Institutes of Health (NIH).
 
Current estimates indicate that there are more than 7,000 distinct rare diseases, and that this number increases by about 250 disorders annually. Today, more than 350 million people around the world have some kind of rare disorder. These ailments come with mysterious names and doctors often take a long time to diagnose them, if ever. They range from relatively well-known ailments such as cystic fibrosis and multiple myeloma to obscure and extremely rare conditions with whimsical or hard to pronounce names, including dancing eyes-dancing feet syndrome, lamellar ichthyosis, fibrodysplasia ossificans progessiva, and lysosomal acid lipase deficiency.
 
“Less than 10 percent of rare disorders have an effective treatment, let alone something that can change the destructive and often painful course of the disease,” admits Groft, a tireless advocate for rare diseases research for decades before retiring from ORDR in 2014. His major focus had been on stimulating research with rare diseases and developing information about these rare diseases and conditions for health care providers and the public. Thanks to the tireless efforts, of many scientists and leaders at the Research Institutes and Centers, including the National Center for Advancing Translational Sciences, NIH has now extended current research efforts beyond basic and clinical work to include translational research initiatives so that new treatments and cures for disease can be delivered to patients faster.
 
The Changing Rare Disease Drug Landscape
 
While rare diseases are truly rare—and some like lysosomal acid lipase deficiency have only a handful of people diagnosed annually with the ailment—the people who have them, children especially, and their parents, are not without hope. “Treatments have improved greatly over the years, thanks in part to the heroic efforts of parents, physicians and scientists determined to find the answers to help children born with mysterious and often untreatable genetic disorders,” Groft says.
 
“The Internet, Facebook and Twitter makes it easy to find like-minded people from all over the world to brainstorm ideas on how to raise the profile of the rare medical condition that concerns you.”
 
Groft is quick to point out that drug companies are also playing an important role in the rare disease arena. “Thanks to the scientific advances that have sprung from the decoding of the human genome a decade ago, drug companies are now employing stem cell and gene-based therapies, and using gene editing to target specific genetic mutations to take on the challenges posed by many rare genetic disorders.”
 
In 2015, the U.S. Food and Drug Administration (FDA) set a record when it approved 21 new drugs to treat rare diseases. Okambi, for example, is designed to treat the 8,500 or so cystic fibrosis patients with a specific gene mutation, while Kanuma, which was approved for the treatment of lysosomal acid lipase deficiency, will be used for the 20 new patients expected to be diagnosed this year.
 
The remarkable number of orphan drugs approved by FDA last year underscores the progress that’s finally being made in identifying and studying new therapies, and also points to the willingness of the often risk-averse investment community to fund orphan drug research.
 
“There have been many economic incentives,” Groft admits, “and this has played a big role in making rare disease research and discovery economically feasible. Tax credits, extended patent protection, reduced timelines for clinical development, exclusive marketing periods, and premium pricing have all helped power the recent surge in orphan drug development.”
 
There are now more than 452 medicines and vaccines in development for orphan diseases and many of these experimental drugs represent innovative new ways to target the rare diseases. “Optimism prevails,” says Groft. “Researchers are now considering possible treatments related to the development of traditional small molecules, enzyme replacement therapies, monoclonal antibodies, gene and cellular therapies, RNAi compounds, nanotechnology applications, and precision medicines.”
 
And while cure for many people with a rare disorder may not always be possible, the new treatments in the pipeline could eventually slow the progress of the disease and, possibly, when offered earlier in the progression of the ailment, offer hope not only for a better quality of life but a longer life as well.

Victoria Jackson shuddered uncontrollably when the doctor told her and husband Bill in 2008 that their 14-year-old daughter, Ali, had an extremely rare autoimmune ailment called neuromyelitis optica spectrum disease, or NMO for short. This was a serious illness with no approved medications, effective treatment or cure. The doctor explained that Ali’s eyes would be affected and she would go blind, and that her brain stem and spinal column would be attacked, eventually leaving her crippled.
 
As heartbreaking and demoralizing as the initial prognosis was, it got worse: Ali’s illness was terminal and she only had about four years to six years to live.
 
For people like Ali, the malfunctioning immune system proceeds to seek out and destroy crucial myelin cells, the protective covering around many nerve fibers in the eyes and spinal cord. Symptoms include rapid onset of eye pain or loss of vision, partial paralysis, shooting pain or tingling in the neck, back or abdomen, and prolonged vomiting. Ali Guthy has had 16 NMO attacks over the years, with each assault further damaging new areas of myelin.
 
Like most of the 80 types of autoimmune diseases, NMO typically fluctuates between periods of remission, with little or no symptoms, and flare-ups, where the symptoms worsen. Infants as young as 23 months and adults in their 90s have been affected. With no curative therapy, treatment for NMO has focused on symptomatic relief.
 
Immunosuppressants are the first line of therapy for NMO and these drugs help reduce the occurrence of attacks. But other drugs, including the cancer medication Rituxan, are often used off label to prevent relapses. “Ali swallows two bags of pills a day,” said Victoria, “but the dire prognosis we had originally been given has not come to pass. Her immunosuppressants and other drugs have kept her alive and happy over the years and she recently graduated from college, where she was president of the student body. “
 
Ali, like her two brothers, was a pretty healthy kid, so her NMO diagnosis came out of left field. It all started when she had lost her ability to see color and had trouble with her vision. Victoria thought she had a bad eye infection. After learning of the diagnosis, Victoria immediately went to the Internet. “We found about four sentences written, and the word fatal was in each of them.” Even more distressing: It seemed that Dr. Brian Weinshenker, a neurologist at the Mayo Clinic, was the only person in the world actively researching the disease. As Victoria soon found out, that’s because a medical condition like NMO is considered a “rare” disease.
 
“By definition,” said Steven Groft, the former director of the Office of Rare Diseases Research for the National Institutes of Health, “that’s a disease that affects fewer than 200,000 people. There are approximately 7,000 different diseases that fall into this category and less than 10 percent have an effective treatment.” It is difficult to find the research funding for rare diseases as these obscure diseases have such few candidates for a potential therapy which makes focusing on them difficult for a pharmaceutical or biotechnology company that have investors to consider.
 
Undeterred and infused with a life-and-death urgency, Victoria and Bill began their difficult journey to the front lines to save their daughter from a rare disease that threatened to take her life before her high school graduation. Jackson, the creator of the successful Victoria Jackson Cosmetics line, and her husband, who co-founded infomercial marketing giant Guthy-Renker LLC, have now spent millions of dollars of their own money since launching and funding the Guthy-Jackson Charitable Foundation in 2008.
 
Surprised and then angered to find the relative nonexistence of basic research, these business people-turned-philanthropists had the goal of fostering and catalyzing global research efforts to discover and develop a therapy that will help Ali and the hundreds of thousands of others globally who are affected by NMO.
 
“After Ali’s diagnosis, my focus went from mascara to medicine,” Victoria said. “I had to educate myself about medicine and autoimmune disease, start a national conversation about NMO where there was none and then help find a cure for a disease that had been totally ignored by researchers. Bill was the funder and I became the finder whose job it was to track down the top scientists around the world and then convince them to work on NMO.”
 
Both Victoria and Bill are successful self-made entrepreneurs who applied principles that they had used in creating their respective companies to then help build their new medical philanthropy. Since its launch, their Guthy-Jackson Charitable Foundation has personally backed dozens of NMO research projects at top medical institutions around the globe, created and hosts an annual three-day NMO-dedicated conference in Los Angeles that gathers all leading NMO researchers into one room and pays to fly in patients with NMO to attend the conference. Next month the foundation is sponsoring the first-ever NMO conference in Africa and supports international NMO Patient Days, bringing patients and stakeholders together for a day of education and sharing.
 
Because of increased focus on the disease, there may be up to 250,000 or more NMO patients worldwide. Still, drug companies have less business incentive in finding a treatment for this rare illness. But, as Henri Termeer found out years earlier, treating rare disease can be profitable. Termeer, the president and CEO of Genzyme Corporation, spearheaded his company’s efforts to come up with a drug for Gaucher disease, a rare debilitating genetic ailment that affects the bones and liver. After ten years of researching and testing, Ceredase was developed, and has now earned billions of dollars for the company after its approval by the Food and Drug Administration in 1991.
 
Last year, the FDA approved a record 17 medications for rare diseases. More than 450 other medications are now in development, thanks to philanthropists like Bill Victoria and patient-advocacy groups that are getting better at raising research dollars and using social media to recruit patients for rare disease clinical drug trials.
 
“Thanks to Bill’s and Victoria’s time, expertise and passion, 175 researchers in 30 countries are supported in their NMO work,” said Michael Yeaman, Ph.D., Professor of Medicine at the David Geffen School of Medicine at UCLA. “Many companies are now in pursuit of NMO treatment, including Opexa Therapeutics, Alexion, Chugai and Medimmune, and clinical trials are underway. The idea that we may re-educate the immune system to overcome its loss of tolerance is one of the most exciting directions that we are heading right now with NMO therapy. And if it works for NMO, it may work for other autoimmune diseases as well.”
 
Beyond traditional approaches, the foundation has made it a point to push the envelope in understanding the disease and finding a cure. It has engaged leading-edge companies and collaborators from Verily (Google Life Sciences), to the Immune Tolerance Network and NIH, to other special interest capabilities in its mission to solve NMO.
 
“Our work with the Foundation has been heavy lifting, but I am blessed that Bill and I have the money to pursue a cure. Going from making lip gloss to then spending time with the smartest medical people in the world, and now preparing to go to the Vatican next April to speak at the Conference on the Progress of Regenerative Medicine, has been quite an experience.”
 
“At the end of the day, the power of love drives all of our efforts,” admits Victoria. “We want to cure our daughter.”
 
For more information on the Guthy-Jackson Charitable Foundation please visit www.guthyjacksonfoundation.org or download NMO Resources by The Guthy- Jackson Charitable Foundation on your Apple or Android device. For more information on the Stem for Life Foundation please visit www.stemforlife.org.