North Carolina: When her son, Gene, was a few days old, Cassandra Locklear said doctors labeled him with a foreboding prognosis: "failure to thrive."
\They didn't know what was wrong. Gene's mouth muscles were too weak to suck a bottle. Unable to get the nutrients he needed, doctors didn't give him long to live.
"I didn't know what to think," said Locklear. "We weren't sure he would survive."
Gene, now 7, went to UNC Hospitals where he was diagnosed with Native American Myopathy (NAM). NAM is a rare genetic muscular disorder found only in the Lumbee population. It causes muscle weakness, short stature, cleft palates, joint tightness, club feet and spine curvature.
Dr. Cynthia Powell, a pediatrics and genetics professor at the University of North Carolina at Chapel Hill, estimates that NAM affects one in 5,000 Lumbees. Those numbers, however, 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.
Recently, the University of Michigan identified a gene mutation that causes Native American myopathy. Before the mutation was identified, there was no way to be certain if someone had the disease. Now doctors simply run a gene test.
Powell said the breakthrough takes the guesswork out of diagnosis and is the first step to finding treatments.
Locklear's daughter, 5-year-old Sydney, also has the disease. She was born with a cleft palate, clubfoot and torticollis - the muscles on one side of her neck are weak, while the other side is contracted, causing her head to tilt.
Native American myopathy delays the development of motor skills, but it doesn't affect mental capabilities. Patients often undergo therapy, bracing or surgery to correct the maladies associated with the disease.
Sydney had surgeries to repair her cleft palate and clubfoot, Locklear said. Both Sydney and Gene have had physical, speech and occupational therapy to help with motor skills. They will probably therapy for the rest of their lives.
"It's a very inefficient system," their mother said.
Another issue is that most physicians and therapists haven't heard of the diseasee -- even those who are Lumbee, Locklear said.
"This is not new," she said. "I'm sure there are people that have had this and died very young. Imagine your child dying and never knowing what was wrong."
Powell said the first reported case of Native American myopathy was described in 1987. Mortality rates among those with NAM were high -- 36% by age 18. Deaths are often attributed to Sudden Infant Death Syndrome or other complications because most doctors aren't familiar with NAM.
Powell points to another factor that affects morality rates. Patients with Native American myopathy who undergo surgery are susceptible to malignant hyperthermia, an adverse reaction to anesthesia that causes a rapid rise in body temperature and severe muscle contractions.
Without fast treatment, the patient can die.
Powell believes that malignant hyperthermia, which is prevalent in Lumbees, may indicate someone as a carrier of the mutation. The mutation is recessive, Powell said. This means that a person must inherit two copies of the gene mutation from both parents to display symptoms.
In the early 2000s, Powell and researchers from UNC and Duke University began looking at genetic markers for the disease. Powell collected blood samples and information from patients with the disease and their families, who often had no history of it.
Her team then mapped the gene to a localized region in the 12th chromosome pair.
After publishing her paper in 2008, she was contacted by doctors at the University of Michigan, who were studying mutations that caused muscle disorders.
The Michigan doctors eventually found a gene that caused Native American myopathy in zebrafish. They mapped it in humans to an abnormal STAC 3 gene, which controls the release of calcium that allows muscles to contract.
Powell said that before this discovery, the STAC 3 gene wasn't even on the human genome.
"It was a collaborative effort," Powell said. "We had the patients. Duke did the lab testing. Michigan was able to find the gene."
Powell said the Michigan researchers are now testing drugs on the affected zebrafish.
Locklear has created a Facebook page dedicated to Native American myopathy. Because the disease is unique to Lumbees, it could help in the tribe's struggle for full federal recognition.
"They are things that are individual to this tribe. This is one of them," Locklear said.
The Lumbee Tribe is recognized by the state of North Carolina. While the federal government recognized the Lumbee tribe as American Indian in 1956, it denies them benefits received by other federally recognized tribes. This includes healthcare.
A tribal spokesman said that the disease "is on their radar" and that the tribe is working on several health initiatives.
"We are trying to learn more about it," he said.
Locklear said her children are happy and healthy. People tell her all the time how smart Gene is.
"He'll never be able to go out and pick up a baseball bat and swing at the same rate his friends do because it's too heavy," she said. "If you take care of yourself, and they've been taken care of, you have the chance to live longer.
"They'll die with it, but they don't necessarily have to die from it."