Study offers hope for patients with rare diseases
Posted March 3, 2016
Many people get sick with a disease that can be diagnosed by the symptoms or with simple tests but with rare diseases, patients often spend years seeking the right diagnosis and treatment.
Eight-year-old Isaac Locklear’s mom, Teresa, who homeschools him, said he has always performed better with one-on-one attention to help him learn.
“He was five weeks premature, and he just wasn’t meeting his milestones,” Teresa Locklear said.
Isaac Locklear had speech delays, gross motor delays, and he was growing faster than most other kids his age.
The challenges led the Locklears on a long journey from California to North Carolina to see if doctors could find a name for his problem, a treatment, or even information about what the family can expect.
“I’m always happy to get an answer because I’d rather know something than not know something,” Teresa Locklear said.
It’s possible that Isaac Locklear has a condition listed among 7,000 rare diseases, which are defined as occurring in fewer than 1 in 2,000 people.
Seven clinical sites, including one at Duke Hospital, are now part of a study funded by the National Institutes of Health.
There is an undiagnosed diseases website where individuals or families can apply to benefit from the combined expertise of different centers.
“A lot of what the undiagnosed diseases program can provide is hope, the best hope that they can have for a diagnosis,” said Duke pediatrician Dr. Loren Del Mar Pena.
Families only need a letter from a referring physician to qualify.
“Then we review the records very closely to see if the patient would be a good fit for the program and if we may be able to help them,” said Duke certified genetic counselor Kelly Schooch.
Patients who are candidates for the program may undergo extensive genetic testing to rule out- or rule in- a potential diagnosis. The information obtained is shared with the other six clinical sites.
“They’re accessing expertise throughout the United States,” said Del Mar Pena.
Genetic testing has led to a clue for the Locklears -- a genetic variance in Isaac Locklear’s blood sample. There’s not yet a name they can attach to it.
“It’s given them something that they can now go and research more,” said Teresa Locklear.