At Children’s, Harper 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 and we were told that she would likely not survive long enough to leave the hospital. Harper was christened at Children’s Hospital on May 15, 2011.
Fortunately, the Ohtahara diagnosis was incorrect. Harper was discharged from Children’s Hospital on May 23, 2011. At the time of her discharge Harper was taking Kepra, Topomax and Phenobarbital 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 on June 2, 2011 and had her last seizure on June 5, 2011. 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 “normal” EEG. We were ecstatic.
Meanwhile, in August, 2011 we learned that Harper has the KCNQ2 genetic mutation. Since that time, we have been focused on learning as much as we can about KCNQ2 and helping Harper meet her milestones. Harper has been receiving physical therapy, speech therapy and occupation therapy in our home regularly since soon after she was discharged from Children’s. Although she is delayed, we are thrilled with her progress. At two and a half, Harper now walks with a walker, can say a few words, sits up and crawls on her own, utilizes some sign language and is very expressive. Feeding, sleeping and temper tantrums remain a problem. Although we have tried, we have been unable to establish any type of normal “schedule” with Harper. She tends to alternate between sleeping excessively and not sleeping at all.
Harper began taking Potiga in August, 2012 to help meet her milestones. Much of Harper’s progress occurred after starting Potiga. Harper’s doctor is unsure if this progress is linked to the Potiga or if it is her natural progression. We recently learned of some potentially harmful side effects of Potiga and will be weaning Harper off of the medication over the next several weeks. I will keep you all updated of her status.
Harper’s older brother, Aidan, nicknamed Harper “Nezbah” before she was born. We later learned that Nezbah is a Navajo work meaning “woman in battle.” Thank you to Mike, Liz and everyone at Jack’s Army for fighting this battle with us and on behalf of all of our children.