My daughter Giana is 23 years old. She was not diagnosed with KCNA2 until she was 17. Until then, she was tried on many medications to control seizures. Not knowing the cause of her seizures, many anti-epileptic medications (over 15) were tried, and failed. Receiving a diagnosis has helped to streamline her treatment, but control is far from perfect. A diagnosis also allowed her to become involved in a single case study targeting her specific KCNA2 phenotype. Throughout all of this, Giana has developed into a beautiful young lady. She is smart, pleasant and kind with a sense of humor others gravitate toward. She enjoys guitar and banjo and loves animals, especially her dogs. She continues to pursue her dream of becoming a dog trainer. My motivation is to help others become aware, understand, and participate in the healing of individuals who have a rare epilepsy diagnosis. Although their diagnoses are rare, they are not. Children and adults with rare epilepsies are more like others than not. They enjoy friends, activities and adventure. They appreciate it when someone listens and allows them to make choices. They understand love. Our website will educate the world about KCNA2 so that we find answers and treatment. This will allow our children to enjoy life with their family, friends and community (just like other kids their age do). When I ask Giana, what motivates her she says, “Because you believe in me.” Hearing that from her will motivate me forever.
In The New Normal, psychologist Nancy Musarra shares her challenges and triumphs as a mother of a child with special needs. Having interviewed hundreds of people—from parents to caregivers—who have walked the same path, Dr. Nancy shares their stories and reflections. Collectively their wisdom forms the foundation of The Seven Things You Need to Know to be prepared for your journey.