A long and distressing diagnostic process and increased fear and anxiety due to the COVID-19 pandemic are common experiences among patients with Pompe disease, according to a new study presented at the 2022 Muscular Dystrophy Association Clinical & Scientific Conference.

The research team investigated the physical, social, and emotional experiences of 27 patients with late-onset Pompe disease in the UK, from first symptoms to diagnosis and disease progression, via qualitative interviews. Eight health care professionals who work with patients with Pompe disease were also interviewed for their perspectives.

“Findings from the participant interviews have provided insights into the psychological and emotional impact of the diagnostic process and of living with [late-onset Pompe disease],” the authors wrote. “The diagnostic process was long and distressing, with most participants emphasizing their desire to reduce the length of time to receiving a diagnosis, being referred to a specialist [health care professional], and starting treatment.”

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The patients also noted the need for more support at the time of diagnosis and better education of general practitioners about Pompe disease. Furthermore, many patients experienced significant anxiety, isolation, poor mood, and physical deterioration during the COVID-19 pandemic.

In terms of health care provider perspectives, they understood the distress patients experienced during the delay to diagnosis and the additional impact of the COVID-19 pandemic on their physical and social well-being. They were optimistic about emerging new treatments and noted that the pandemic had beneficial effects on encouraging and streamlining online consultations with their patients.

The authors expect that an ongoing online survey for patients with late-onset Pompe disease will provide further insight into their social, emotional, and physical experiences as well as the impact of the COVID-19 pandemic on their lives.


Hughes D, Sashorum L, Muir A, et al. Living with Pompe disease in the UK: characterizing the patient journey; burden on physical and emotional quality of life; and impact of COVID-19. Poster presented at: 2022 Muscular Dystrophy Association Clinical & Scientific Conference; March 13-16, 2022; Nashville, TN. Poster virtual.