newborn screening

In the United States, every child gets tested for a multitude of rare diseases and conditions at birth. However, each state picks and chooses which rare diseases and conditions they’ll screen for. Pennsylvania, where I live, added Pompe disease to their newborn screening panel in February 2016, a…

I made it through another year living with late-onset Pompe disease. That puts me at four years on this journey. As 2023 kicks off, I’m starting year five. I’ll be another year older and hopefully wiser come St. Patrick’s Day. We finished the holidays with a big surprise.

Newborn screening for Pompe disease is feasible at large scale and can facilitate early treatment with better outcomes for babies with infantile-onset disease, according to a new study from Italy — the largest of its kind in Europe. The study, “Newborn screening for Pompe disease in…

A newborn boy was diagnosed with both infantile-onset Pompe disease (IOPD) and sickle cell disease (SCD) in the first case study to report two co-existing genetic disorders. The boy was given enzyme replacement therapy (ERT), a standard Pompe treatment, and regular blood transfusions to prevent heart damage…

Scientists at the University at Buffalo (UB) in New York have received a five-year $3.8-million grant to develop methods to improve the accuracy of newborn screening for Pompe disease and two other rare genetic disorders. The project, “Enhancement of Newborn Screening Diagnostic Paradigms to Improve the Efficacy of…

Enzyme replacement therapy (ERT) was effective in a newborn with infantile-onset Pompe disease (IOPD) who developed treatment antibodies and had low blood levels of a type of immune cell called neutrophils, according to a case report. Researchers stressed the importance of including Pompe disease in newborn screening programs…

Enzyme replacement therapy (ERT) given as early as possible may lead to better outcomes in children with classic infantile-onset Pompe disease (IOPD), according to a long-term study conducted in Taiwan. “Our study demonstrates that administering ERT as soon as feasible and employing short-term hydrocortisone premedication leads to better…

Parents of children with late-onset Pompe disease (LOPD) that is identified via newborn screening report not receiving enough information, guidance, and support, which leads to feelings of frustration and anxiety. That’s according to the study “Newborn screening for Pompe disease: Parental experiences and follow-up care for…

In an interview study, mothers of children who tested positive for Pompe disease in genetic newborn screening programs — and would be diagnosed with the late-onset type, or LOPD — expressed uncertainty about the age of symptom onset for their sons and daughters, and concerns about their child’s future.

One of the first tests my son had as a newborn was called a newborn screening test. This simple yet important blood sample is what started our journey with Pompe disease. The disease was added to Pennsylvania’s newborn screening panel one year before Cayden…