The Russian name “Nadiya” directly translates into the word “hope”.
When she was born, I don’t think my husband David, or I knew how appropriate our second child’s name would be. In the beginning, there was not a lot of hope. Nadiya was severely disabled. Specialists did not think Nadiya would sit or communicate or walk. We had no idea what the future would hold and we didn’t know what to do. Then David said something profound to me and those words have guided us ever since. He said, “It is our job to give Nadiya the best quality of life she is capable of having. It will not be the same as her sister’s life and that will be ok”. This became our goal and remains our goal today. Through methods that were not always conventional Nadiya did these things the specialists never thought she’d be capable of and more. The Ketogenic diet controlled the worst of her seizures for over 8 years which allowed development. A unique physical therapy technique called Medek taught Nadiya to walk with assistance. Nadiya’s love for music taught and motivated her to sign through Signing Time music videos. We quickly learned that Nadiya was hope indeed. We do not know what she will do but we know that she will do it in her own time and in her own, probably unconventional, way.
Now Nadiya is 15 years old and she is an extremely happy child with a sometimes-inappropriate sense of humor. She loves music (especially classic rock), mermaids, dogs, Disney World, and her family. She loves to listen to Steely Dan, Queen, Fleetwood Mac and other classic rock bands. She has a good relationship with her older sister. Nadiya has potential.
Nadiya’s history is a complicated one with lots of unexpected turns. It look us a while to find ourselves where we are today. I knew there was something wrong when Nadiya was just 4 months old. She still had head lag and was not meeting milestones. Nadiya was arching, jerking, and screaming a lot during her first year. What was dismissed as colic and then reflux we eventually learned was Infantile Spasms. By 5 years old she was diagnosed with Lennox-Gastaut Syndrome. Still we did not know the cause of her multiple disabilities which included a seizure disorder, feeding disorder, orthopedic problems, cognitive deficit, cortical vision impairment, sensory problem, severe fine and gross motor problems, and she was nonverbal. It was not until Nadiya was 10 years old that we had an exome sequence done and Nadiya was diagnosed with a de novo T374I mutation of the KCNB1 gene. This later opened the door to an amazing group of people who would become our KCNB1 family. KCNB1 seems to be amplifying her Lennox-Gastaut Syndrome. She has multiple types of seizures that are perpetually evolving and changing. Adolescence and puberty have brought on an unpredictable instability that Nadiya has never experienced before. Nadiya’s condition is life threatening and her unpredictable seizures require someone to monitor her, assess her during a seizure, and intervene when necessary.
Despite the challenges this rare disease brings, Nadiya continues to teach others about hope. We have realized that we must never set limitations for Nadiya and we refuse to allow others to set limitations. She can learn and she has potential. She can be reached but in a different way from those who are typical. She is always growing and changing. At 14 years old she learned to grasp a spoon and bring it to her mouth. Many believed this was impossible, but we never gave up. We have committed to advocating for her and others with rare diseases so that they have access and acceptance in this world. We are also committed to learning all we can about Nadiya, and we will continue to be her voice. It is our vision that Nadiya will be happy, she will have the best quality of life that she is capable of having, and she will forever teach others about hope.
When she was born, I don’t think my husband David, or I knew how appropriate our second child’s name would be. In the beginning, there was not a lot of hope. Nadiya was severely disabled. Specialists did not think Nadiya would sit or communicate or walk. We had no idea what the future would hold and we didn’t know what to do. Then David said something profound to me and those words have guided us ever since. He said, “It is our job to give Nadiya the best quality of life she is capable of having. It will not be the same as her sister’s life and that will be ok”. This became our goal and remains our goal today. Through methods that were not always conventional Nadiya did these things the specialists never thought she’d be capable of and more. The Ketogenic diet controlled the worst of her seizures for over 8 years which allowed development. A unique physical therapy technique called Medek taught Nadiya to walk with assistance. Nadiya’s love for music taught and motivated her to sign through Signing Time music videos. We quickly learned that Nadiya was hope indeed. We do not know what she will do but we know that she will do it in her own time and in her own, probably unconventional, way.
Now Nadiya is 15 years old and she is an extremely happy child with a sometimes-inappropriate sense of humor. She loves music (especially classic rock), mermaids, dogs, Disney World, and her family. She loves to listen to Steely Dan, Queen, Fleetwood Mac and other classic rock bands. She has a good relationship with her older sister. Nadiya has potential.
Nadiya’s history is a complicated one with lots of unexpected turns. It look us a while to find ourselves where we are today. I knew there was something wrong when Nadiya was just 4 months old. She still had head lag and was not meeting milestones. Nadiya was arching, jerking, and screaming a lot during her first year. What was dismissed as colic and then reflux we eventually learned was Infantile Spasms. By 5 years old she was diagnosed with Lennox-Gastaut Syndrome. Still we did not know the cause of her multiple disabilities which included a seizure disorder, feeding disorder, orthopedic problems, cognitive deficit, cortical vision impairment, sensory problem, severe fine and gross motor problems, and she was nonverbal. It was not until Nadiya was 10 years old that we had an exome sequence done and Nadiya was diagnosed with a de novo T374I mutation of the KCNB1 gene. This later opened the door to an amazing group of people who would become our KCNB1 family. KCNB1 seems to be amplifying her Lennox-Gastaut Syndrome. She has multiple types of seizures that are perpetually evolving and changing. Adolescence and puberty have brought on an unpredictable instability that Nadiya has never experienced before. Nadiya’s condition is life threatening and her unpredictable seizures require someone to monitor her, assess her during a seizure, and intervene when necessary.
Despite the challenges this rare disease brings, Nadiya continues to teach others about hope. We have realized that we must never set limitations for Nadiya and we refuse to allow others to set limitations. She can learn and she has potential. She can be reached but in a different way from those who are typical. She is always growing and changing. At 14 years old she learned to grasp a spoon and bring it to her mouth. Many believed this was impossible, but we never gave up. We have committed to advocating for her and others with rare diseases so that they have access and acceptance in this world. We are also committed to learning all we can about Nadiya, and we will continue to be her voice. It is our vision that Nadiya will be happy, she will have the best quality of life that she is capable of having, and she will forever teach others about hope.