Nadiya’s Story
Eighteen-year-old Nadia, whose name means “hope,” loves fashion, and she likes to make a statement with sequins, sparkles, rhinestones, and fun hair accessories. She’s also really into Disney movies like the Little Mermaid and Encanto and music by Fleetwood Mac, Steely Dan, even Hamilton. Her family describes her as very pleasant, easy going and a great sense of humor.
While Nadiya is always laughing, life hasn’t always been easy for Nadiya and her family as she was born with a rare disease that took ten years for doctors to fully diagnose. Nadiya has a de novo T374I Mutation of the KCNB1 gene, which is known to cause seizures and other disabilities. This gene is so rare there are only 150 known cases – with only one other child diagnosed with the same variant as Nadiya. Nadiya’s seizure disorder, Lennox-Gastaut Syndrome is impacted by the KCNB1 gene, which makes her seizures unpredictable and intense beyond typical epilepsy. By the age of 13, Nadiya’s seizures had reached crisis level to the point where she had 26 in one day over a nine-hour period. “She was having life threatening seizures in her sleep, it was terrifying.”
“When Nadiya was born, her future was uncertain, as doctors did not think she would ever be able to sit, communicate or walk,” said her mom, Jill. “We had no idea what her future would hold, but we had hope. My husband David said something early on that became our mission. 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.”
With the support and advocacy efforts of The Coordinating Center and Nadiya’s medical team, Nadiya was able to transition off of the Model Waiver Wait List she had been on for six years. Within six months of enrollment in the Model Waiver, Nadiya began to receive nighttime nursing services that her mom describes as “lifesaving and has allowed Nadiya to safely attend school and sleep at night.”
Through caring for Nadiya, her mom Jill, a former Language Arts teacher for middle school children, become an advocate for other children living with rare diseases and complex medical needs. In 2016 Jill began to work at the Parent’s Place of Maryland, where she was able to use her experience to help other families. Since then, Jill has participated on many committees and groups related to special needs children at Mt. Washington Pediatric Hospital, including chairing their Family Advisory Counsel.
Jill has advocated for investing in the field of pediatrics, children’s hospitals, the ketogenic diet, and for other numerous issues and programs for families with children with complex medical needs and disabilities. From 2018 through 2020, Jill met with politicians in Annapolis to advocate for increases in Medicaid reimbursement rates for nursing services. Through her testimony, Jill expressed that her greatest fear was her child dying from a seizure in the middle of the night that she couldn’t stop because she was so exhausted, she slept through it. Through Jill’s advocacy and the advocacy efforts of others, nursing rates were increased by three percent.
Jill’s advice for someone considering The Coordinating Center is to “do it.” “Our Coordinator is a calm voice, who is there to sort out the pieces and help find solutions. I can count on her to help when there is a nursing crisis or any other need my child has. I tell families the earlier you reach out to The Coordinating Center, the sooner you can get connected with care coordination and access services that are life changing,” said Jill.
