What is Alternating Hemiplega of Childhood (AHC)?

AHC is an extremely rare, neurological disorder in which repeated, transient hemiplegic or quadriplegic attacks (paralysis of the body, including the face) or bouts of dystonia (stiffening of extremities) occur, affecting one side of the body or both sides of the body at once. The attacks may last for minutes, hours, or even days.

AHC attacks are often associated with triggers that precede or induce the attack. Triggers of AHC attacks may include – but are not limited to – environmental conditions (such as temperature extremes or odors), water exposure, physical activities, lights (sunlight, fluorescent bulbs), foods (chocolate, food dye), emotional response (anxiety, stress, fright), fatigue, and medications.

Although the disorder is named “childhood”, those affected by AHC do not grow out of the disorder. As children with AHC age, they continue to develop difficulties in fine and gross motor skills, cognitive function, speech, and social interactions.

Gene Therapy could be the answer.

Although Mandy’s prognosis is severe, current research has shown exciting and promising results that gene therapy may provide a cure for her devastating and debilitating disorder. The majority of cases of AHC are identified by having a mutation in the ATP1A3 gene. Gene therapy would involve a one-time injection of a functional copy of ATP1A3 into the cerebrospinal fluid and is designed to permanently correct the dysfunction caused by the mutated gene.

Since AHC is such a rare condition, funding is needed in order to get gene therapy through various pre-clinical and clinical trials. If we can get gene therapy to clinical trials quickly, it may be possible to treat our AHC children before it is too late. As patients get older, the long term effects from AHC may not be reversible.