This is our story…
Symptoms
At around two months old, Archie started having involuntary rapid eye movements, known as nystagmus. It caught our attention, but since everything else seemed normal, we carried on with our daily lives without too much worry.
The first seizure
A few weeks after we first noticed his eye nystagmus, Archie had a 15-minute seizure that required multiple rescue medications. An ambulance rushed us to our local hospital, where doctors determined he was having cluster seizures. From there, he had to be medevaced to Children’s National Hospital in DC.
Our short return home
Upon returning home from the hospital, we thought we were on the road to a potential epilepsy diagnosis. A couple of anti-seizure medications later and things seemed under control, until three days later, when another eight minute seizure sent us back in an ambulance. At this point we had more questions than answers.
Genetic Testing
During our second week-long stay at Children’s, the doctors decided to do more extensive genetic testing. Up to that point, we still believed it was just a rare form of epilepsy. But when the results came back, they showed a mutation in Archie’s ATP1A3 gene. Given his age and early symptoms, the most likely diagnosis was Alternating Hemiplegia of Childhood.
Official Diagnosis
Archie saw numerous doctors across multiple specialties, all puzzled by his presentation. It wasn’t until we connected with members of the AHC Foundation and Cure AHC that we finally felt confident in his diagnosis. These organizations helped us find leading neurologists at Children’s National who had experience treating AHC patients, giving us much-needed guidance and support.
The Big Picture
As newly found parents to a medically complex child, we began working with a diverse team of specialists to establish a routine and create a new “normal.” Our family has embraced the call to fight and advocate for Archie and his fellow AHC champions, striving to give them the best possible outcomes. We created this foundation not just for Archie, but for anyone navigating a similar journey—offering support, guidance, and hope to help find calm waters in turbulent seas.
