Parents’ Passionate Efforts Help Researchers Identify Cause Of Rare Disorder Affecting 800 Worldwide
LIVONIA, Mich., Aug. 2, 2012 /PRNewswire/ — Alternating hemiplegia of childhood (AHC), a rare disorder that causes sporadic paralysis of the limbs and a range of other developmental challenges, has recently been given hope for a cure. Thanks to a grant in 2010 by the Pepsi Refresh Project and parental involvement throughout, a collaborative effort of prominent researchers at both Duke University and the University of Utah has resulted in identifying one of the key causes of the disorder – mutations in the gene ATP1A3. Results of this finding were recently published in the peer reviewed journal Nature Genetics.
AHC is found in less than 800 people worldwide. Experts believe that many more patients are affected by its symptoms, but are misdiagnosed due to lack of doctor knowledge of the disorder. While symptoms vary, AHC patients can also experience debilitating muscle contractions, developmental delays, trouble walking and seizures, among other challenges. The disorder typically begins prior to 18 months of age but despite the name, usually lasts throughout one’s life.
According to Dr. Sandra P. Reyna, Research Associate Professor in the Department of Neurology at the University of Utah and co-author of the study, “This disorder was identified as a disease over four decades ago, but little progress had been made in understanding the causes of AHC or in identifying effective treatments.”
Founded in 1993, the AHC Foundation is a non-profit, parent led organization. With such a small parent base, fundraising to finance critical research into the cause of the disorder has been a continuing challenge.
Fortunately in 2010, PepsiCo unveiled The Pepsi Refresh Project in which they awarded $20 million in grants to individuals, businesses and non-profit organizations that promote a new idea that has a positive impact on their community, state, or the nation. Each month competing organizations worked to get votes for their cause. The two organizations with the most votes each month received $250,000.
“We knew this was our chance to get enough money to make a difference,” said Jeff Wuchich, father of a child with AHC and president of the AHCF. “So we worked tirelessly to get people to vote each day for the foundation to win the grant. We had parents, doctors, school organizations, hospitals and friends of families all come together on the phones and online. Our supporters walked the streets, going into grocery stores, libraries and coffee shops to ask people to vote for our cause.”
As the foundation competed against larger, well known organizations like the Humane Society and Cystic Fibrosis, the team forged ahead. In a close competition the AHCF dropped to third place during the final days of the competition. With only 30 minutes remaining to vote, AHCF climbed back into the number two position and remained there until voting closed and received the $250,000 grant.
“It was a really great experience to witness all of these people banding together for such a great cause,” said Wuchich. “We proved that day that while we may be small, we are a mighty and determined community.”
Experts say identifying the genetic mutation is a critical first step. According to Dr. Kathryn J. Swoboda, Associate Professor of Neurology and Director of the Pediatric Motor Disorders Research Program at the University of Utah, “The discovery of this mutation provides an exciting new opportunity to develop targeted treatments to help patients with this rare and devastating disorder.”
Dr. Mohamad Mikati speaking for the Duke research group that included Dr. David Goldstein, Dr. Erin Heinzen, Dr. Mikati and many others said: “This study is an excellent example of how world-wide collaborative research can make a dramatic difference for a rare disorder as AHC. This discovery clarifies the cause the disease, provides a test that could help in its diagnosis and gives hope for the future development of an effective treatment. We are now all looking forward to working together on the next phases of the work that will bring us even closer to such effective therapies.”
The AHC Foundation plans to be side by side with the experts as parents continue to identify creative ways to fund the research needed to develop these targeted treatments.
“My son Matthew and other AHC patients like him depend on donations to extend research and to educate doctors about the disorder,” said Wuchich. “As parents, we won’t stop until we find a treatment and a cure.”
For more information and to donate time or money, visit ahckids.org. AHCF can also be found on Facebook and Twitter.