My name is Harper Johnson and I was born on May 2nd, 2011 weighing 7 lbs 3 oz. My parents began to worry about me on day 2 as I began to have seizures. After two EEG's, an MRI, and a Spinal Tap and 5 days in the NICU at Rose Hospital I was moved to Children's Hospital in Denver via Flight for Life. I spent 3 weeks at Children's, had an abundance of tests and continued to baffle my doctors. I was i
nitially diagnosed with Ohtahara Syndrome after numerous EEG's. Thanks to a test that recently became available I have been diagnosed with KCNQ2. We are unsure of my prognosis, but my parents are hoping and praying for the best. After trying an experimental medication called Potiga, Harper is medication free and taking it one day at a time. Before I was born my brother Aidan would call me "Nezbah" as my parents hadn't decided on a name yet. Unbeknownst to them, Nezbah is a Navajo word meaning 'woman in battle'. This is my story. What is KCNQ2
KCNQ2 is a gene involved in the proper functioning of a potassium channel in the brain. Abnormal changes, or mutations, in the gene are associated with seizures. KCNQ2- related epilepsies represent a spectrum of conditions from mild to severe. For over 10 years, mutations in the gene were associated with a mild condition called “Benign Familial Neonatal Convulsions” or BFNC. Babies with BFNC have seizures that begin shortly after birth and then stop within several months. Development is usually normal. BFNC may run in families, as the name implies. Researchers recently identified different mutations in KCNQ2 that are associated with a severe form of neonatal epilepsy named KCNQ2 encephalopathy. The severe form is always associated with moderate to severe developmental problems, but fortunately most information available regarding KCNQ2 refers to the mild form of BFNC.
