Spotlight: AHC Champion Matthew (NC, USA)
(As shared by Matthew’s dad, Cure AHC President Jeff Wuchich) Renee & I welcomed Matthew into the world July, 2007. It was a whirlwind from the start. He landed in the NICU hours after birth with abdominal issues that soon resolved, but doctors thought in the meantime he had a seizure. Then came a 10 day ordeal of medically induced coma, a plethora of tests, and no conclusions. Doctors chalked it up as a “fluke” and sent us home to love on our newborn son.
Over the next 6 months Matthew would spend many days in the hospital, first with nystagmus at 2 months (again thought of as seizure, with seizure meds prescribed), then dystonia at 4 months . Then the paralysis came at 6 months. It would start in one arm and quickly overtake his entire body. He would remain like that (save 15 minutes or so after awakening) for days. It was heartbreaking. The cycle would repeat every 2 weeks or so. We spent the next 12 months searching for answers, sending video after video to neurologists around the world. Fortunately in North Carolina children who have difficulty like Matthew become eligible for developmental services. He began to receive PT, OT, & Developmental Therapy. He continues to receive these services (and speech to boot) in school to this day.
Finally in November, 2008 we found a doctor close to home, who through a 3 days bevvy of inpatient tests, led to the diagnosis of Alternating Hemiplegia of Childhood in December, 2008. We felt so overwhelmed, as there was little information available, and none of it good.
We almost lost Matthew a few months later. Doctors weaned Matthew off the epilepsy drug, thinking he did not need it. Matthew had landed in the hospital with breathing issues from an AHC episode. While at the hospital, he began to exhibit what doctors suspected as seizure activity (absence seizures). Just 30 minutes after he was hooked up to a video EEG, he had a massive grand mal seizure and quit breathing. Doctors had to put him in a drug induced coma again to stop the seizure (which had lasted 3 hours) and we were not sure if he would ever come back to us. We were blessed that he came through relatively unscathed, with only limited regression of the few skills he had mastered at that point.
We threw ourselves into advocacy for AHC after this, determined to find whatever we could to improve Matthew’s quality of life. He continued to have significant developmental delays. Fortunately flunarizine, a calcium channel blocker used in much of the world as a migraine treatment, has had tremendous benefit for Matthew. His episodes of paralysis went from days to minutes. He does to this day have them quite frequently (many times in a week), but usually they are just one arm.
2011 brought another diagnosis, Type 1 diabetes. This has been at times even a bigger struggle for us than AHC, and this disease definitely impacts Matthew’s AHC symptoms. But today we have begun to manage better thanks to the Omnipod insulin pump and the Dexcom G4 Continuous Glucose Monitor. We count our blessings that Matthew’s hospital stays from diabetes have been few.
We were again blessed that Dr. Mohamad Mikati, world renowned expert in AHC, had joined Duke University Hospitals as Chief of Pediatric Neurology. He renewed his interest in AHC research, and our family sample was 1 of the first 7 Duke used to discover in January, 2012 that ATP1A3 mutations cause AHC. There are now dozens of mutations in that gene discovered that cause AHC. There are 2 that account for the majority of cases. Matthew has the 2nd most common: E815K.
Later studies have revealed that Matthew’s mutation is indicative of the most severe symptomology in AHC. Most with this mutation are wheelchair bound, non-verbal, with very poor quality of life. We consider ourselves highly blessed that Matthew walks (usually with the aid of AFOs) speaks, and is making developmental progress. He loves to swim, play baseball, and ride horses. He loves educational games on the iPad. Despite all this progress, the fear remains that AHC or a seizure could wipe out all this progress, as it has in some AHC Champions. We also often struggle with behavior with Matthew, though the AHC clinic has brought improvements. This is why we will continue to work our hardest to help any family with AHC improve their champion’s quality of life, as we push the research forward toward the Cure!