Stormy has been diagnosed with a devastating neurological disease called Alternating Hemiplegia of Childhood (AHC). The disease constitutes bouts of paralysis lasting minutes, to hours, to days. This paralysis will sometimes alternate from one side of the body to the other, other times it will affect the whole body and it also causes global cognitive and physical impairment/delay. Additionally, about 50% of children with this disease have epilepsy which is the case for Stormy. This disease is literally 1 in a million. There are only 300 known cases in the United States and 1,000 known cases in the world. 

There is currently no cure for this disease and there are limited medications available that have variable success in managing the painful and completely disruptive symptoms. BUT, there is HOPE! Cure AHC, AHC Foundation and Hope for Annabel have been working together on a gene therapy effort using Adeno Associated Virus (AAV) as a delivery system for functioning ATP1A3 to compensate for the mutated ATP1A3 associated with AHC. Gene therapy provides a path to a cure for AHC. 

Stormy’s future is incredibly uncertain and we aren’t willing to sit around and let this disease strip her of a full life. Please help us in making a donation to find a cure for this devastating disease.

ABOUT AAV PROJECT AND OTHER RESEARCH

With funds raised from the AHC Foundation, we will support AAV gene therapy and other research related to the project.  We believe a path has been identified to a viable permanent treatment: gene therapy.  The gene therapy we propose will involve inserting a functional copy of the ATP1A3 gene into a virus (an adeno-associated virus or AAV) that has been stripped of its harmful payload and its ability to reproduce. The virus will then be injected into the cerebrospinal fluid and will carry the functional gene to the cells in the brain that are failing. By delivering additional functional copies of the gene, we should be able to rescue those cells, and treat the disease permanently. 

Learn more about the AAV Gene Therapy Project here. 

Human Timebombs (Documentary on AHC)

With funds raised from the AHC Foundation, we will support AAV gene therapy and other research related to the project.  We believe a path has been identified to a viable permanent treatment: gene therapy.  The gene therapy we propose will involve inserting a functional copy of the ATP1A3 gene into a virus (an adeno-associated virus or AAV) that has been stripped of its harmful payload and its ability to reproduce. The virus will then be injected into the cerebrospinal fluid and will carry the functional gene to the cells in the brain that are failing. By delivering additional functional copies of the gene, we should be able to rescue those cells, and treat the disease permanently. 

Learn more about the project here.