Aubrey was born on July 3rd 2020, happy and healthy.  When Aubrey was very little she had some strange eye movements and would tense up her body, hold her breath and then grunt loudly as if trying to push out a bowel movement. Tess and Cam as first time parents weren’t sure what to think but they were assured by doctors and clinical nurses that these were just “normal” baby things. It wasn't until Aubrey's three month check up that the paediatrician noticed she was hypotonic. She started seeing a physical therapist and was referred to a neurologist who had her complete three EEG's, one MRI, and a CT scan which all came back normal. Aubrey began to have worsening episodes around Christmas time where she would go completely limp, have wildly erratic eye movements and would whimper in pain. This was quite unlike her normally happy, smiley, “chill” self and Tess and Cam grew increasingly worried. Further blood tests were completed and eventually the Exome. 

On May 14th, 2021 they received the results of that test and their lives forever changed. Aubrey has the E815K mutation of the ATP1A3 gene. Since then Aubrey has started on Flunarazine and takes Ativan as a rescue med. She also takes a B12 supplement which seems to have really helped with her strength. Aubrey continues to see multiple physical therapists and an OT and is getting stronger and stronger. Currently her good days out number the bad, but we know how quickly this can change. AHC is unpredictable, an episode can come out of nowhere leaving Aubrey without the use of one side of her body or worse completely paralyzed unable to eat or swallow. 

The cutting edge research underway is extremely promising, but they need all of our help! On October 3rd please join us in the race to end AHC.  Last years race raised over $125,000 towards ending AHC. Please help us meet (or exceed!) our fundraising goal of $10,000 and give Aubrey and every other person living with AHC the best opportunities possible! It is our greatest wish that future families who are forced to learn about this devastating disease see hope instead of despair. We can make a difference and end AHC!

The Race to END AHC is on! For over 25 years, the AHC Foundation has been in the race to treat or cure AHC for all our AHC kids. It has been a long race, and the foundation has covered much ground by taking many steps toward that goal. 

Through research, education, and family support, we have ONE MISSION: END AHC.

Through these three pillars of our mission, the AHC Foundation works to provide our community support and hope as we all move through this journey. Funding RESEARCH from small studies to gene discovery, to collaboration on landmark gene therapy that holds much potential; providing EDUCATIONAL resources to families through support groups, introductions to physicians, and our website; SUPPORTING FAMILIES through our support group, biennial family meetings, and availability of volunteers for crisis; are all ways the AHC Foundation works to END AHC. 

Join us in fundraising to continue to provide resources to families, fund research with high potential, and raise awareness of this rare disease.