Young Cherokee endures rare genetic disorder called FG1 syndrome
MUSKOGEE – Although living with a rare genetic disorder known as FG1 syndrome, 11-year-old Cherokee Nation citizen Gavin Day is a hilarious, social and good-natured boy, his mother and CN citizen Jade Day said.
His daily life consists of taking numerous medications, and he often sees specialists and therapists for his condition.
FG1 syndrome is an X-linked neurodevelopmental disorder that causes learning difficulties, weak muscle tone, cardiac defects and vision problems, Jade said. Through this disorder comes cerebral palsy with spastic/ataxic diplegia and visual impairment.
“I am an X-linked carrier of a variation on MED12 that cause FG1 syndrome. Our journey with Gavin started at birth after a relatively normal pregnancy. He was born via emergency C-section due to oligohydramnios at (W.W.) Hastings Hospital,” she said.
Oligohydramnios is a deficiency in the amniotic fluid during a pregnancy, and she said he came out struggling to breath and had other birth defects.
“In first year of life, he had a feeding tube, multiple surgeries and as many therapists as we could find. As he grew older more issues were noticed and addressed. All his doctors swore there was a genetic issue there, but after numerous testing, nothing was found. It took us until he was 7 and a half years old to get our answer,” Jade said.
She said the answer was discovered using whole exome sequencing through a nonprofit for undiagnosed patients.
Gavin’s medical expenses are covered through Sooner Care via children with disabilities who medically qualify as disabled through the Social Security Administration. He sees eight specialists, is in need of five different therapists and takes up to 15 medications daily. He endures several tests and procedures annually. He also uses a CPAP machine and oxygen to sleep safely at night, and a cane and orthotics to walk around.
“Costs for his care are insane. We call him our million-dollar baby because he hit $1 million care cost before he was 1 year old,” Jade said.
Earlier this year, Jade was appointed by the National Organization for Rare Disorders and the Oklahoma Rare Action Network as an ambassador for Oklahoma to serve as liaison between NORD and state agencies, networks and officials to increase awareness of rare diseases and disorders.
“I feel it is my duty as his mom and ambassador to educate doctors, other medical professionals and the general public on rare disorders and the struggles that come with being rare. Awareness is key on getting funding for research and developing services to serve this patient base and families better,” she said.
She added that Gavin is the best advocate for those with FG1 syndrome because he is the one living with it. There is no cure for his disorder, and he will endure it for the rest of his life.
She said Gavin would like people to know when they get a diagnosis, it doesn’t change whom they are.
“It is just a small part of you no matter what it is,” he said.
In 2017, Gavin was selected out of thousands of children and named a “Little Lobbyist” of the week. Little Lobbyists is an organization that advocates, outreaches and educates about children who have complex medical needs and disabilities. Organizers deliver to lawmakers photos and stories of children with medical needs and disabilities so they can see firsthand who needs the protection of laws and programs under threat such as the Affordable Care Act, Medicaid, Americans with Disabilities Act and Individuals with Disabilities Education Act that are for families reliant on specialized health care, accessible public spaces and inclusive education, according to www.littlelobbyists.org
“I am raising Gavin to know he is the expert, and his opinions and concerns matter most in regards to his life and health. I want him to be the best advocate for himself,” Jade said.