July 9, 2013
/PRNewswire/ -- Due to a generous donation of
by a donor who wishes to remain anonymous, the Alternating Hemiplegia of Childhood Foundation (AHCF) will fund additional research through
, bringing them closer to a cure for Alternating Hemiplegia of Childhood (AHC).
AHC is a rare disorder that causes sporadic paralysis of the limbs and a range of other developmental challenges. It is found in less than 800 people worldwide and is believed to affect far more patients, but it is misdiagnosed due to lack of physician awareness of the disorder. While symptoms vary, AHC patients can 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, it lasts throughout one's life.
In 2012, the AHCF helped to fund research that led to a major breakthrough in identifying mutations in the gene ATP1A3, a key cause of the disorder. This latest donation will enable the Foundation to continue crucial research started with
last year. "We are honored to work with the AHCF to help understand the basis for AHC and to seek new treatment strategies. This very generous donation will allow us to determine how ATP1A3 mutations cause AHC and to find pharmacological strategies to correct the defect. While animal research is always important, this work will use human neurons generated from patients with AHC," said Dr.
"Funding is so critical to changing these children's lives. Research won't happen without it. We made enormous progress in 2012 with the discovery of the gene mutation," said AHCF President,
. "Now, as we continue to raise funds for research, we are so thankful for this person's immense generosity and are hopeful that it moves us down the path to ultimately finding a cure for our loved ones who suffer every day."
Founded in 1993, the AHCF is the premier nonprofit organization focused on finding a cure for Alternating Hemiplegia of Childhood while offering support and education to the hundreds of families afflicted with the disease worldwide. With such a small group affected, fundraising to finance research efforts has been a continuing challenge.