Lauren Bailey, MS, CGC at Duke University talks about their recent study in which 5 babies were diagnosed with late-onset Pompe disease via newborn screening who began to show symptoms in the first few years of life.
Bailey LA, Rairikar M, Desai A, et al.A newborn screening dilemma: when to treat Pompe disease with c.-32-13T >/; G IVS splice site mutation. Presented at WORLDSymposium; San Diego, CA; February 13-16, 2017.
Rachel Foster is a patient with late-onset Pompe disease. As Rachel describes in this interview, her diagnosis took 18 months of doctors appointments before finally being referred to Duke University where Dr Priya Kishnani diagnosed her with late-onset Pompe disease.