It is important to understand the experiences of parents of infants diagnosed with Pompe disease via newborn screening, which can include fear and anxiety, researchers wrote in the Journal of Genetic Counseling.
Newborn screening for Pompe disease cannot distinguish between its two forms. In classic infantile-onset Pompe disease, patients rapidly develop cardiomyopathy and cardiorespiratory failure, with death commonly occurring within 12 months of life. In late-onset Pompe disease, patients tend to present with delayed motor skills and develop progressive muscle weakness.
Because early detection can lead to early initiation of treatment, some scientists advocate for newborn screening to become more accessible; however, others worry about the psychological burden this might place on families.
“The benefits and harms of identifying [late-onset Pompe disease] through [newborn screening] have only recently begun to be understood and ongoing further investigation in families with [late-onset Pompe disease] specifically is warranted,” the authors of the study wrote.
Read more about Pompe disease epidemiology
They thus conducted a series of semistructured telephone interviews with 10 parents of infants diagnosed with Pompe disease via newborn screening. Each interview was around 40-50 minutes long. The interviews were recorded and transcribed.
The study revealed highly personal responses that highlighted key areas of improvement. For example, parents reported lacking detailed information regarding the newborn screening results. Parents also described feelings of fear and anxiety for their child and a lack of psychosocial support. However, they often felt relieved when their child was later found to have late-onset Pompe disease instead of infantile-onset Pompe disease.
Despite the potential stressors of newborn screening for Pompe disease, parents generally advocated for its inclusion in more states.
“In-depth analysis of where the discordance/inadequacy remains, and immediate methods to resolve it, would be crucial to alleviate the negative impacts reported by parents,” the authors of the study concluded.
The main treatment for both forms of Pompe disease is enzyme replacement therapy administered intravenously every 2 weeks. Studies have demonstrated that enzyme replacement therapy decreases the risk of death by 99% and that early initiation can improve clinical outcomes.
Prakash S, Penn JD, Jackson KE, Dean LW. Newborn screening for Pompe disease: parental experiences and follow-up care for a late-onset diagnosis. J Genet Couns. 2022;10.1002/jgc4.1615. doi:10.1002/jgc4.1615