by Ali Rockett
PROSPECT – When her son, Gene, was only a few days old, Cassandra Locklear said doctors labeled him with a foreboding prognosis: “failure to thrive.”
The muscles in his mouth were so weak that he couldn’t suck a bottle, Locklear said.
Doctors weren’t sure what was wrong, and, without the ability to get the nutrients he needed, they didn’t give him long to live.
“I didn’t know what to think,” said Locklear, a single mother who lives in Prospect, a small community between Maxton and Pembroke. “We weren’t sure he would survive.”
Gene, now 7, went to UNC Hospitals, where he was diagnosed with Native American myopathy, a rare genetic muscular disorder found only in the Lumbee population.
Dr. Cynthia Powell, a professor of pediatrics and genetics at the University of North Carolina at Chapel Hill, said the disease causes muscle weakness, short stature, cleft palates, joint tightness, club feet and spine curvature.
Powell estimates the disease affects one in 5,000 Lumbees, but the numbers could be much higher. The Lumbee Tribe of North Carolina, with 55,000 members, is the largest American Indian tribe east of the Mississippi. Its members primarily live in Robeson, Scotland, Hoke and Cumberland counties.
It wasn’t until June 4 that doctors at the University of Michigan, with the help of Powell’s research, identified a gene mutation that causes the disease.
The breakthrough will take the guesswork out of diagnosis, Powell said, and is the first step to finding treatments for the disease.