As I write this greeting, my own daughter is coming out of an AHC episode that has lasted several days. There was only a day-and-a-half between this and the previous multi-day episode. Nearly 12 of the last 14 days have been in an AHC episode. I am exhausted. My wife and son are exhausted. Kathryn is exhausted. AHC is hard. Yet I am reminded that families are working hard, AHC kids are struggling more, but they are also making it.
AHC is not impossible. Our families prove this every day by working through the daily grind, by educating themselves about science and medicine, and by caring for a child that is fully aware of what is going on around them but can not get their bodies to participate. I find strength in knowing I am not alone, that I am in the company of some of the strongest people in the world. I find hope in Kathryn’s smile and in the those smiles of any AHC kid I come across.
I find hope in the AHC Foundation as well. Though I have been at the helm for a short while, I have been involved for nearly eight years working with some of the most dedicated volunteers in the community; both within our organization and outside of it. The passion each one has for ending AHC is inspiring. These volunteers are working to educate the community through a redeveloped website that aims to be the hub of all AHC information, by attending conferences to better understand the disease, and developing materials for distribution to new families for orientation in our community.
Our volunteers work to support research that furthers the understanding of AHC and ultimately to provide a resolution to our struggles against it. The AHCF is currently preparing for any clinical trial that develops by creating a longitudinal natural history database with our partners at Massachusetts General Hospital and Dr. Kathy Swoboda, a long-time ally to the AHC community.
Our collaboration with CureAHC and Hope for Annabelle continues in the AAV Gene Therapy project that is designed to provide transgene correction utilizing gene replacement. This project is in the proof-of-concept phase. This winter, the AHC mice at Jackson Laboratory will be injected with the correcting virus vector, and we hope to establish a strong case to the National Institute of Health to proceed to the Toxicology phase and on to clinical trials.
We are funding new research as well. We recently approved Dr. George at Northwestern University to pursue research into knockdown gene therapy, develop an additional mouse model, and investigate the link between AHC and epilepsy through the human AHC neurons we have previously developed.
The AHCF is currently considering research into a third avenue of gene therapy and expanding our collaboration with CureAHC and Hope for Annabelle. A CRISPR gene editing project has come into focus and is being aggressively pursued with top scientists at top research institutions.
So much work is on the boards! So much hope is in our hearts! While we may have a tempered enthusiasm for the outcomes of what these projects promise, our passion for the mission of the Foundation burns bright in the hearts of our volunteers. Our passion is contagious. That can be seen in the increased participation from the community, in the three additions to our board, and in the incredibly successful inaugural Race to END AHC held this Fall. The community is stronger this year.
Our kids humble us in their own strength. A smile through a paralysis or dystonia; struggling to stand with friends while only one side works; a voice where there has not been one for days… these kids are strong! Our families are strong! Because of this strength, I have no doubt that we will prevail in our mission to END AHC.
Humbly and sincerely submitted,
AHC Parent and President of the AHC Foundation
Through education, research and family support, we have ONE MISSION:END AHC!
#AHC #AHCF #AHCSTRONG #ENDAHC