On October 10, 2018, we were elated to finally meet our second daughter, Mandy. She was a healthy 8lbs, had a head full of dark hair and was absolutely beautiful. We were so proud and excited to take her home and start our life as a family of four.

Mandy had been in the nursery on the morning of our discharge, we were trying to catch a quick nap before heading home. Just hours before we were to leave, a nurse entered our room and told us our baby was having a seizure. They had us wait in our room until further notice. We sat in complete agony and prayed she would be okay. How could this be happening to OUR baby?! We called our families and told them we wouldn’t be coming home today, instead Mandy would be transferred to the NICU at a neighboring hospital.

What seemed like hours passed before they came to get us. We walked down the hall to a large room where concerned doctors and nurses were trying to stabilize Mandy, breathing for her and trying to help her recover from several more suspected seizures. The scene before us had us pleading with God to spare her life.

How you can help.

Although Mandy’s prognosis is severe, current research has shown exciting and promising results that gene therapy and gene editing 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 and gene editing involve an 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. For all of the children who now suffer with AHC, it is imperative that we move fast, and we need your help.