Harper’s Story
In May 2011 Harper was born and seemed to be in perfect health, although she was unusually quiet. When Harper was two days old, we noticed her first tonic-clonic seizure.
She underwent many tests including EEGs, MRIs and various genetic tests. Harper’s EEG was abnormal and showed a “burst and suppression” pattern and hypsarrhythmia (spasms). Harper was initially diagnosed with Ohtahara Syndrome. She was discharged from the hospital 20 days later. At the time of discharge Harper was taking multiple anti-epileptic drugs and having 10-15 tonic-clonic seizures a day. She was heavily sedated by these medications, slept most of the day and night, and feeding was extremely difficult. Harper began receiving ACTH injections twice per day 3 days later had her last seizure. Harper has been seizure free since that time. Over the next few months, Harper was weaned off all seizure drugs and her EEGs became gradually improved. In December 2011 Harper had a slow, but normal EEG.
Meanwhile, in August 2011 we learned that Harper had the KCNQ2 Early Onset Epileptic Encephalopathy. Since that time, we have been focused on learning as much as we can about KCNQ2 and helping Harper meet her milestones. Harper receives a multitude of therapies each week. She struggles with significant cognitive and gross motor delays. Harper has learned to walk, utilizes some sign language, says a few words and is very expressive. Feeding, sleeping and temper tantrums remain a problem. In August of 2014 Harper was diagnosed with Autism. She has started ABA therapy, which we hope will help with her behavior and autistic stimming.
As of now there are just over 200 diagnosed people world wide with KCNQ2 EOEE. With limited information Harper’s parents started a Facebook support group and founded the KCNQ2 Cure Alliance Foundation along with two other families. The KCNQ2 Cure Alliance established KCNQ2 Awareness week as the first full week in March starting in 2014 and is currently finalizing plans for the 3rd annual parents and professional’s summit.