NORWAY, Maine (NEWS CENTER) -- A NEWS CENTER follow-up to a story we brought you a year ago on a baby girl who has a rare genetic disorder.
McKenzie Barker has Pompe {Pom-pay} Disease, so uncommon it's the only pediatric case in Maine.
It causes muscle weakness and enlarged organs including the heart.
Some babies with this disease don't live to see their first birthday -- but McKenzie's family found a treatment that's extending her life.
Little McKenzie is thriving -- which her mother says is nothing short of a miracle.
Pompe disease occurs in one in every 40-thousand births and the key is to catch this rapidly progressive disease early.
McKenzie was just weeks old -- when she started receiving enzyme replacement therapy and other treatments.
When we first met Krystye Bettney she was reeling from the discovery that her newborn daughter McKenzie has Pompe disease. Patients with the disorder are missing a vital enzyme -- which leads to a build-up of sugar in the body weakening muscles and damaging organs.
"Mainly the heart, and then it's so enlarged they can't breathe, and they pass away from cardiac heart failure," said Bettney.
The only sliver of hope was enzyme replacement therapy, or ERT. McKenzie started the bi-weekly infusions when she was two months old.
After several months of enzyme treatments along with speech, physical and occupational therapies, McKenzie started hitting most of her developmental milestones: crawling, holding a bottle, picking up toys.
Krystye took McKenzie to Duke University School of Medicine where researchers are providing treatment and education to families of children with Pompe Disease. She came home with new exercises and a special binder McKenzie wears while sleeping to help her legs stay straight.
Doctors at Duke are also searching for a cure -- something Krystye will stop fighting for.