Until the symptoms appeared a third time. Then a physician sent her to the North Carolina Children’s Hospital, where, finally, Dr. Muge Calikoglu, a pediatric geneticist, made the mystery diagnosis: carnitine palmitoyltransferase 2 deficiency, a rare genetic disorder that is often fatal in small children, and can be severely debilitating in young adults.
On, the Discovery Health Channel program “Mystery Diagnosis” is scheduled to feature Allison’s story. Dates and times may vary, so check local listings.
“Dr. Muge and the Children's Hospital put the puzzle pieces together and gave me my life back,” says Allison, from Greensboro. She will enter UNC as a freshman this fall.
Wanting to increase awareness of rare conditions like hers, Allison pitched her own story to the “Mystery Diagnosis” producers back in 2008. Intrigued, they came to UNC and Greensboro in February to videotape the family’s saga.
While the show leans heavily on dramatization, Allison’s story is very real, and it highlights the special field of genetics, which itself is often dramatized.
“Allison’s case really illustrates the importance research and care in the areas of clinical genetics and inborn errors in metabolism,” says Calikoglu, associate professor at N.C. Children’s Hospital and the UNC School of Medicine. “The pediatric genetics and metabolism program at UNC cares for children with such disorders from all 100 counties throughout North Carolina.”
TV shows highlight forensic genetics, and the field has become popular with genealogists. But, Calikoglu says, “Day in and day out, the typical doctor who specializes in genetics is gratified to help solve difficult problems, like Allison’s, and bring relief to patients.”
Read more on UNC Health Care's Weblog.