EAST LIVERPOOL, Ohio (WKBN) — It took two years for East Liverpool parents John Scott and Heather McCune to get a diagnosis for their son Za’kari, who has a genetic disorder so rare it doesn’t yet have a name.
Now his parents hope their story will help other parents of kids with special needs.
Three-year-old Za’kari is an energetic and happy toddler. He loves cartoons, fire trucks and taking walks outside his East Liverpool home with his parents.
No one would guess that he has a rare genetic disorder. It took until last summer for Za’kari to get diagnosed.
Za’kari’s mother noticed some issues as soon as they brought him home. She was told she had post-partum depression and that Za’kari had colic.
“After days upon days of screaming, I would call the doctor’s office crying or I would make John — after work — get in the car, and we would drive to Akron Children’s. We would go clear to Pittsburgh. We were trying to find somebody that would come up with a reason why he was screaming,” said McCune.
“We didn’t understand what was going on,” said Scott.
It wasn’t until they switched pediatricians their doctor noticed Za’kari had low muscle tone for his age and referred him to a neurologist and then geneticist at Akron Children’s that revealed he was one of three children worldwide with an ARF3 gene mutation.
“His parents were very very motivated to get answers for Za’kari so we talked through options at that point,” said Dr. Jason Laufman, a geneticist at Akron Children’s Hospital.
It wasn’t after multiple years and a research paper that the mutation was discovered. Za’kari has some developmental delays — he says a few words and started walking late.
“We got an ultrasound for his head and we saw a bunch of fluid was in his head so you know what? He probably had a lot of fluid build-up and that was causing migraines,” said Scott.
Za’kari is still on baby formula as a toddler and only drinks two kinds of Pediasure because he has trouble swallowing which is his mom’s biggest concern.
“Feeding is a daily struggle for him, that’s one of our biggest things. His fine motor skills are behind so Za’kari, normal daily tasks for toddlers his age are somewhat difficult for him,” said McCune.
McCune and Scott both work full-time to support their family, which includes Za’kari’s 12-year-old brother Deonte. They say despite everything, Za’kari has made so much progress.
“Now we can get him out in public and he enjoys himself. He’ll shake people’s hands. When he gets to meet somebody, he smiles. He’s enjoying life and it’s a blessing to see it. He’s taught me so much in three years of being on earth as a mother,” said McCune.
McCune said they have an amazing support system in their family and friends. Right now, they’re fighting insurance issues to get Za’kari back in therapy.
She has advice for other parents.
“Always go with your gut. Your gut will steer you in the right spot, and they can’t speak for themselves. Somebody has to fight for them. My fight is not up yet,” said McCune.