Five-year-old Cedar Rapids boy fights rare genetic condition

By  | 

CEDAR RAPIDS, Iowa (KCRG) - For the Hoffpauir family of Cedar Rapids, every day is a gift and a challenge.

"You just love your kids, and so I think that love has provided us with the strength to get through every day,” Addie Hoffpauir said.

When Sebastian, Addie’s and her husband, Cody’s, oldest child, was three years old, he was diagnosed with KARS, an extremely rare genetic condition. It's so rare that Sebastian is one of just 11 people worldwide who has been diagnosed with it.

"I have a deletion on my KARS gene, and Cody has a mutation on his, and Sebastian received both of the deleted and mutated copies,” Addie said.

Three times a day, Sebastian eats through a feeding tube, a grueling process for the five-year-old boy. He also receives nourishment through a tube while he sleeps because his condition affects the mitochondria in his cells, making it difficult for him to create and keep energy.

Sebastian can’t speak or walk, and he has frequent seizures because epilepsy and cerebral palsy have developed in recent years.

"I quit working,” Addie said. “I quit nursing school, and I basically became a nurse for my own son at home."

Sebastian has two younger sisters, neither of whom has KARS.

There are bright spots for him too.

Sebastian can now sit up on his own, and he goes to school four days a week, where he receives different types of therapy.

"It's completely melted my heart and given me hope,” Addie said.

So too has connecting with a family in Australia whose daughter has the same condition.

"I'm ready to share Sebastian with the world, and let them know that they're not alone with having a child with special needs,” Addie said.

Doctors say the life expectancy for kids like Sebastian with mitochondrial disease is just 10 years old.

"I'm trying to be strong and not think about that,” Addie said. “It's kind of always in the back of my mind."

So the Hoffpauirs treat every day with their son like the gift that it is.

"I'm just hoping that the more we fight for him, the longer he'll be able to stay with us,” Addie said.

Addie and Cody have created a Facebook page called “Fight Like Bash,” where they post updates on Sebastian’s progress and how he’s doing.