Experiences of Parents of Children With Late-Onset Pompe Disease Diagnosed By Newborn Screening

Pompe disease is an autosomal recessive lysosomal and glycogen storage disorder. It is classified as either infantile-onset Pompe disease (IOPD), which is characterized by severe muscle weakness and enlarged heart shortly after birth, or late-onset Pompe disease (LOPD), which is characterized by more slowly progressive weakness without obvious symptoms at birth. Pompe disease was added to the Recommended Uniform Screening Panel (RUSP) for newborn screening (NBS) in 2015 as early treatment with enzyme replacement therapy is lifesaving for children with IOPD. However, most patients identified via newborn screening have LOPD, which does not require immediate treatment and may not present until childhood or adulthood. There are not yet clear guidelines for management and treatment of children with LOPD diagnosed via NBS which creates a challenge for both clinicians and parents. This study explored the experiences of parents whose children were diagnosed with LOPD by NBS. Surveys containing multiple choice and free text questions were collected from 42 parents to assess their experiences with diagnosis and follow up, access to services, and the emotional impact of the diagnosis. The majority of parents (70.7%, 29/41) stated their anxiety levels decreased over time since their child’s diagnosis. Out of those parents who saw a genetic counselor and commented on that experience, 71.9% (23/32) stated meeting with a genetic counselor impacted their ability to manage their child’s diagnosis. The primary areas of genetic counseling impact included accessibility, providing resources, aiding in understanding of diagnosis, making a treatment plan, and supporting parental mental health. Parents emphasized the necessity of healthcare provider knowledge on conditions like LOPD, the prolonged feeling of uncertainty years after diagnosis, and the benefit of having a good support group and healthcare team on anxiety levels. Knowledge of parental experiences and needs is important as more individuals with late-onset conditions continue to be identified by NBS. Information on how to improve these experiences can help healthcare providers better serve individuals and families affected by these conditions