What We All Need to Learn From Rare 'Orphan' Diseases: The Path to Progress

researcher in medical lab
researcher in medical lab

The month of February has come to mean much more than romantic Valentine's Day celebrations or the short rainy season we can usually expect in otherwise sunny Southern California. At least for my family and families like ours, it has.

February, officially designated five years ago as Rare Disease Awareness Month, is a sober reminder of the dreaded diagnosis given to our beloved daughter Ali that same year. In fact, it was during February 2008, almost to the day of this writing, that my husband Bill and I were informed that 14-year-old Ali had tested positive for neuromyelitis optica (NMO). A rare, poorly understood autoimmune disorder, NMO attacks can lead to blindness, paralysis, and life-threatening seizures. At the time there was no known cause, no promising treatments, and NMO was often fatal. Ali, whose symptoms included a brief period of nausea followed by a sudden ache in one eye accompanied by blurred vision, was given four to six years to live.

During the nightmarish days that followed, when I first heard NMO (also called Devic's disease) described as a rare "orphan" disease, I have to admit the "orphan" part went right over my head. Too much for my shell-shocked brain. What did that even mean? A fatal condition that had no parent? The "rare" part had already undone me. My first reaction was like -- WTF, nobody has it but her? Well, almost nobody. At the time, NMO was so freaking rare it was then believed to afflict only about 20,000 people around the world. The "orphan" status came from the fact there was very little ongoing research to offer hope of improved chances of her survival.

The journey to defy these unacceptable odds is the basis for Saving Each Other, a book co-written with my now 19-year-old, healthy, thriving daughter Ali Guthy. The first step was taken when Bill and I established the Guthy-Jackson Charitable Foundation to fund the research to better understand, treat, and ultimately banish NMO from the planet -- with the war cry NO MORE ORPHANS. I knew that a conventional approach to accelerating the pace of findings wasn't going to work. Not with Ali's life on the line. Not with the other lives at stake of those who joined our community.

And so, our "rare approach to a rare disease" was born. To come at the scourge of a mystery illness in a multi-pronged way, we went in search of the best of the brightest in multiple fields to fund their research; all that we asked was that they share their findings with each other. In the process, we quickly learned that many NMO patients are misdiagnosed with MS or other autoimmune conditions. So much so that recent findings show about 10 times the numbers once estimated to have NMO now have it, with many more that may be afflicted.

Because early diagnosis and early intervention with improved therapies are essential -- transforming a death sentence to a treatable chronic disease -- awareness can be life-saving. For that reason I created a global Connect-the-Docs map that has allowed us to identify a worldwide network of health care providers who are now diagnosing NMO. Thinking outside the compact (as the former makeup artist in me likes to say), I then came up with an outreach program to establish a bio-repository so vital to research.

No matter how miraculous I wanted our achievements to be, I could never have dreamt what I know now -- that unraveling NMO would provide answers to a host of other diseases and, incredibly so, that we could change the landscape for medical science itself. Five years later those have been a few of the steps in our path to progress.

That's part of what we're celebrating this Rare Disease Awareness Month. February marks progress in overturning terrible odds. The landscape has changed. Drug companies more and more recognize that rare diseases have provided some of the most important medical breakthroughs on record. The therapies they're funding are finding new and more applications.

The bottom line is that no matter what the challenge at hand, we are all really in this together. And by sharing our discoveries we can live up to the ideal of truly saving each other.

For more on what we all can learn from rare diseases, visit http://www.guthyjacksonfoundation.org.

You can also order our book at all fine booksellers and here.