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.
Today, the American Health Care Act (aka TrumpCare) is being voted in Congress. The bill needs 215 votes to be approved. It is likely that no Democrats support it, meaning that only 21 Republicans can vote against the bill and it can still get approved.
PANDAS, or pediatric acute-onset neuropsychiatric syndrome, links the sudden onset of OCD or tic-like symptoms to streptococcal-A (GABHS). Could this mysterious affliction be a rare disease or not a disease at all?