Danielle Boyce, M.P.H.
Associate Director of Research Programs, National Organization for Rare Disorders (NORD®)
Ten years ago, I experienced every parent’s worst nightmare: at 10 months-old, my son Charlie was diagnosed with infantile spasms, a rare and severe form of epilepsy that often carries a poor prognosis. Even though I was trained in epidemiology and worked in the clinical research field when Charlie was born, I struggled to find good information on his condition.
At that time, most of the internet content on infantile spasms was anecdotal and only confirmed my fears. Then I found NORD and their member organizations. These groups provided evidence-based information and resources, empowering me to become an informed parent and leader in the rare epilepsy patient and caregiver community.
Major strides
It is stunning how far the rare advocacy community has come in the past ten years. We now have vast, international advocacy networks connected through social media. Today, when a parent searches the internet for “infantile spasms,” they are immediately connected to comprehensive, medically accurate resources. With a condition like infantile spasms where, every minute from diagnosis to appropriate treatment counts, the positive impact of these efforts is immeasurable.
I recently asked Dr. Orrin Devinsky, director of New York University’s Langone Comprehensive Epilepsy Center, to share his thoughts on how patient groups have evolved over the course of his more than 30-year career.
“One of the most fundamental shifts in medicine over my career has been the transformation of patients and caregivers from the recipients of doctor’s expertise and advice, to drivers of improved quality of care and new therapies,” Dr. Devinsky said. ”Far more than becoming partners with the healthcare team and far beyond raising funds for research, the lay population has created the demand for greater understanding of the patient’s perspective, which became the quality of life revolution in healthcare. Similarly, many of the genetic therapies now in trial or approved would never have emerged without the families igniting the fuse of discovery with their passion.”
A revolution
I have been fortunate to participate in this awareness revolution as a patient representative for the U.S. Food and Drug Administration, as a clinical researcher in adult pulmonology, who moved on to consulting for numerous industry and academic institutions on my child’s rare disease, and as an experienced parent offering advice and support to newly diagnosed families almost every day.
In the summer of 2020, I joined NORD as the associate director of research programs, and I’m honored to be a part of the larger rare patient community and excited to continue to partner with these extraordinary families.
Today, Charlie is 10 years old — a happy little boy who loves pizza, his three siblings and his iPad. He underwent two surgeries to remove a large part of his brain and continues to struggle with frequent seizures and many other challenges in his day-to-day life.
We will always have our struggles, but I know the rare epilepsy advocacy community is always there for us. Their tireless efforts will mean that one day, children like Charlie will have a cure.
Suggested Epilepsy Resources
The following resources provide fact sheets, videos, information on upcoming webinars, conferences, and more on rare seizure disorders.
NORD
NORD, a 501(c)(3) organization, is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. Along with its more than 320 patient organization members, NORD is committed to identifying, treating, and curing rare disorders through programs of education, advocacy, research, and patient services.
NORD Rare Disease Database
NORD Rare Disease Database provides introductions to patients and caregivers for specific rare diseases, including rare forms of epilepsy such as Dravet syndrome, Lennox-Gastaut syndrome, infantile spasms, and many others.
Child Neurology Foundation
The Child Neurology Foundation is a national nonprofit that works to support the whole child neurology community, connecting partners from all areas so those navigating the journey of disease diagnosis, management, and care have ongoing support from those dedicated to treatments and cures.
Tuberous Sclerosis Alliance
The Tuberous Sclerosis Alliance is dedicated to finding a cure for tuberous sclerosis complex, while improving the lives of those affected.
The Dravet Syndrome Foundation
The mission of the Dravet Syndrome Foundation is to aggressively raise funds for Dravet syndrome and related epilepsies, to support and fund research, increase awareness, and provide support to affected individuals and families.