Researchers discovered that parents of children with Pompe disease typically express feelings of uncertainty and worry at the time of diagnosis, but these feelings can be alleviated given time and education, according to a study published in a special issue of the International Journal of Neonatal Screening titled “Psychosocial Burden of Positive Newborn Screening.”

At present, 28 states have newborn screening programs for Pompe disease or have initiated pilot programs. The form of the disease most commonly diagnosed via newborn screening is late-onset Pompe disease, making up more than two-thirds of cases.

“Early diagnoses of later-onset disorders come with benefits such as improving health outcomes by avoiding a diagnostic delay and associated uncertainty, anxiety, and turmoil for patients and families living without a diagnosis,” the authors of the study wrote.

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However, early diagnosis does not eliminate parental anxieties about healthcare costs, prognosis, and insurance uncertainties. Hence, the authors of the study sought to understand the experiences of parents regarding newborn screening, the diagnosis of late-onset Pompe disease, and presymptomatic monitoring.

Read more about Pompe disease etiology 

The authors of the study conducted interviews with 8 participants via Skype voice calls, which were recorded. The results demonstrated that parents often found the waiting period between newborn screening result notification and diagnosis to be deeply unsettling. Upon diagnosis, parents often described feelings of sadness and fear of the future. 

Participants revealed that they appreciated emotional support systems as well as informational resources. After an initial period of grieving, parents usually arrived at a stage of acceptance, and the diagnosis became normalized. 

“Future research into what families experience, how these children grow up, and how to predict disease outcomes will benefit how providers make recommendations for following pre-symptomatic individuals and personalizing their care,” the authors of the study concluded. 

Late-onset Pompe disease is usually diagnosed after the first year of life and manifests as proximal muscle weakness and breathing difficulties. 


Crossen K, Berry L, Myers MF, Leslie N, Goueli C. A qualitative study: mothers’ experiences of their child’s late-onset Pompe disease diagnosis following newborn screeningInt J Neonatal Screen. 2022;8(3):43. doi:10.3390/ijns8030043