The Pino family said they need help raising funds for training a service dog for Maddie to help when she's battling an episode of paralysis or epilepsy brought on by AHC.
"It is a disorder which combines really multiple disorders together," Duke Children's Hospital Dr. Mohamad A. Mikati said. He added that children with AHC suffer from reoccurring episodes of paralysis, epilepsy, painful stiffening, and attention deficit hyperactive disorder.
Dr. Mohamad A. Mikati is the Division Chief for Pediatric Neurology at Duke Children's Hospital. He's a professor of both pediatrics and neurobiology at Duke University and one of the leading researchers studying the disorder.
Dr. Mikati helped discover the mutation in the gene that causes the disorder.
He's also Maddie's doctor, and Maddie's dad, Jason, said their family moved from their home in Beaufort, S.C. to Durham in 2013 to be closer to Mikati and Duke Children's Hospital.
Maddie's mother, Landis Pino, biggest fears come when she wonders about Maddie's future.
"Are we going to see her grow up to be a teenager? Are we going to see her reach other milestones? Or are we going to be planning events that no parent should have to plan," she said.
The Pino family is hoping to train their dog Lucy to be a service dog for Maddie, so Lucy can alert them if Maddie is having an episode - giving them time to administer medication if it's an epileptic episode, or providing support for her if it's an episode of paralysis.
Landis Pino said Lucy is already a big help to the family in detecting episodes.
"She'll be sitting there, and she'll just start barking and when you turn and look, Maddie will be in an episode," Landis said.
She said training Lucy would take some of the burden off of the family's shoulders. They recently found out their 2 year-old daughter, Marley Pino, has AHC too.
"It's severe enough to deal with one child who has that. These are two siblings that have it," Dr. Mikati said. "So I can imagine how stressful it can be on the family."
Dr. Mikati said episodes of paralysis in children who have AHC can alternate from one side of their body to the other, and episodes can last anywhere from minutes to hours, days, or even weeks.
Read more about the Duke Children's Neurology Clinic and their AHC program.
Check out Cure AHC, a non-profit based in Rolesville, NC which partially funds AHC research at Duke.
Editor's note: In an earlier version of this story Madison Pino incorrectly identified as five, not six years-old.
Report a Typo