In an instant, 5 years ago my life changed course when my 10-year-old daughter quietly tiptoed into my bedroom one summer evening complaining about a nightmare. Within weeks she had another “nightmare,” and after a visit to the doctor she was diagnosed with epilepsy. Thus began our personal nightmare, our 2-year descent into despair, consisting of lower lows, which did not seem to ever have a bottom. Nine months after that first seizure we had to inform our little girl that her unrelenting seizures could only be “cured” by a special trip to the hospital. It was a blessing of sorts that at 10 years of age, she could not fully grasp her own desperate situation; as a last resort, we would be removing half her brain. Such is the inevitable outcome of Rasmussen encephalitis (RE).
RE is a rare epilepsy syndrome, occurring mostly in young children, that attacks one half of the brain, and causes seizures that do not respond to medicine, paralysis of half the body, and cognitive decline. After a 2-year medical odyssey and two radical surgeries, one at Johns Hopkins and the other at University of California, Los Angeles (UCLA), today my daughter is not experiencing seizures, but she is left to deal with the aftermath of lifelong limitations that result after cerebral hemispherectomy.
RE is a scourge that robs kids of their childhood and life. Due to the modern miracle of today's medicine, there are now talented individuals who can remove the unispheric habitat of RE, allowing in many cases for the RE patient to live a new “normal” life. For me that was not good enough; the hemispherectomy surgery is a blunt and extreme response to a condition for which we should have a better answer. My goal is to oust the neurosurgeons from the RE business.
In 2010, I formed the RE Children's Project, a nonprofit philanthropic organization to advance our understanding of RE through accelerated medical research, with the goals of finding a noninvasive treatment and an eventual cure. RE is the rarest of the rare, and devastates families in every corner of the globe without concern for race, gender, wealth, nationality, heritage, or any other defining human trait. As such, although we are located in Connecticut near New York City, our vision from the beginning was to have a global footprint.
Not much is known about this disease: is it viral, autoimmune? Theories abound but with no proof. Our first task was to establish a research agenda; we quickly sponsored two research symposiums within 6 months of one another devoted to defining research goals. Participants came from all over the world—Australia, Europe, Africa, and Canada—and from cross-disciplines, and thus we began our journey.
In the past 3 years we have funded several projects totaling $750,000. These projects are the kindling meant to ignite a broader interest in the disease around the world and to attract funding from deeper-pocketed entities such as the National Institutes of Health (NIH). Our efforts have focused on both the potential viral and genetic causes of the disease. Grant recipients have included Johns Hopkins, UCLA, Yale University, and University of California, San Francisco (UCSF), as well as international organizations.
Guiding our research agenda and efforts is a scientific advisory board today consisting of six individuals who are recognized heavyweights in the epilepsy and rare disease communities. Meetings are held in a loose knit fashion by conference call or when a quorum is assembled, as is the case every year at the American Epilepsy Society annual meeting. In addition, the RE Children's Project is committed to sponsoring periodic research symposiums to refresh our ideas and reboot our efforts, and our third symposium is scheduled for February 2014.
Collaboration among research organizations is the central tenet of the RE Children's Research Consortium. The Consortium, established in 2011, is a loose confederation of the world's leading genetic, rare disease, and neurology centers, all of which have agreed that there is a greater good in sharing real-time success and setbacks to advance research into a rare disease.
Flexibility and innovation are essential to our model. With limited resources we marshal our efforts to achieve results that help us understand RE. For example, through the power of social media we have been able to connect with RE patients and convince them as to the merits of participating in our research projects by donating their tissue to our virtual brain bank. The idea of a virtual brain bank was hatched at our research symposiums. To reduce costs and complexity, rather than establishing one central location for storing tissue, we have participating research universities that can receive and ship tissue to interested investigators. The RE Children's Project has successfully navigated a remarkable global logistical maze to transfer fresh frozen brain tissue immediately following hemispherectomy surgery to arrive at our research partner labs within 24 h of surgery at Johns Hopkins and UCLA. We have transferred tissue from Brazil, Portugal, Australia, England, and Canada, as well as the United States. All of these activities are managed by a research coordinator hired by the RE Children's Project to facilitate our research agenda.
Every week I relive the nightmare of RE as I receive e-mails from around the world from desperate parents expressing horror that their child has this devastating disease and they must face the decision to remove their child's brain. Thank goodness we are alive today in the age of expansive social media that allows us to learn from other families that there is hope. That said, let's not celebrate the hemispherectomy as a cure for RE; we can do better. We are open for business and interested in receiving research proposals that are innovative, using the best ideas available.