Jeannette family adapts to life as best they can caring for baby with rare genetic disease

How to help:Online donation site — www.gofundme.com/2ge294sSign up for one of our email newsletters.Updated 5 minutes ago Ryleigh Martin gets a bit fussy just like any soon-to-be 1-year-old might when they know it's time for dinner. But for Ryleigh's...

Jeannette family adapts to life as best they can caring for baby with rare genetic disease

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Updated 5 minutes ago

Ryleigh Martin gets a bit fussy just like any soon-to-be 1-year-old might when they know it's time for dinner.

But for Ryleigh's mom, mealtime means attaching a tube hanging from a black bag on the wall of her Jeannette home to one protruding from the girl's stomach. On a recent night, the pair sat wrapped in a blanket on the couch while the tubes did the work.

“She's supposed to be rolling over, crawling,” said Amber Drost. “She laughs and smiles and she does the ‘oohs' and ‘aahs.' ”

Ryleigh has a rare form of mitochondrial disease — pyruvate dehydrogenase deficiency — which has caused microcephaly, small limbs and hands, low energy and muscle tone, and difficulty eating. She's partially blind and wears tiny hearing aids. Neural brain fibers that communicate messages between the brain hemispheres are missing, and other portions of her brain are underdeveloped.

For the past year, Drost and husband John Martin have been adapting their lives to meet Ryleigh's needs, which are many and expensive. They learned about a possible problem when Drost was 25 weeks pregnant, but a definitive diagnosis didn't come until six weeks into Ryleigh's life.

“It's been hectic, that's for sure,” Drost said. “I've been in and out of the hospital more than you can imagine.”

It was a relief to finally learn a name for the condition, she said. According to the United Mitochondrial Disease Foundation, children with pyruvate dehydrogenase deficiency cannot convert into energy some of the food they eat — such as sugar or carbohydrates. That means the body's cells can't function properly.

“At first, I was really worried as to what I would need and how I would have to live and how would we be able to afford things and will I be able to work,” Drost said. “I just wanted to love her and care for her as best as I could.”

Ryleigh's older half-brothers, 8-year-old Mitchell and 7-year-old Draake, call her “princess.” She especially loves when Mitchell holds her.

“I just can't even believe how she loves him,” Drost said. “He's calming with her.”

Draake prefers to lie “on the floor and cuddling her,” Drost said.

Dad John Martin dances around and sings her songs, she said.

The happy times are tempered with the costly needs — specialized medical equipment, a new vehicle to fit Ryleigh's increasing equipment load and whatever the little girl's future brings.

“All her equipment right now does not fit in my car,” Drost said.

But for now, they'll celebrate Ryleigh's first birthday Friday with a “twinkle little star” themed party the following day.

Renatta Signorini is a Tribune-Review staff writer. Reach her at 724-837-5374 or rsignorini@tribweb.com.

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