Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening

Area of Science:

• Medical Genetics
• Rare Diseases
• Patient Experience Research

Background:

• Fabry disease (FD) is a rare genetic disorder with variable clinical manifestations.
• The optimal timing for FD diagnosis, particularly regarding newborn screening (NBS), remains under discussion.
• Patient perspectives are crucial for informing policy decisions on NBS programs.

Purpose of the Study:

• To explore the lived experiences of Fabry disease patients concerning the timing of their diagnosis.
• To identify patient-centered themes relevant to the debate on newborn screening for FD.
• To understand the perceived benefits and drawbacks of early versus delayed diagnosis.

Main Methods:

• Qualitative study utilizing semi-structured interviews with 30 Fabry disease patients (13 males).
• Audio-recorded interviews were transcribed verbatim.
• Thematic analysis was performed on transcripts to identify key patient experiences and themes.

Main Results:

• Six relevant themes emerged from patient interviews.
• Delayed diagnosis negatively impacted severely affected patients, leading to feelings of misunderstanding and misdiagnosis.
• Presymptomatic diagnosis presented challenges, including patient labeling and medicalization.
• Early diagnosis offered potential benefits like preventing disease progression through timely treatment, but also introduced anxieties about future health issues.
• Patient experiences varied significantly based on symptom onset and diagnostic timing.

Conclusions:

• Patient experiences with Fabry disease diagnosis are heterogeneous and influenced by timing.
• The nuances of patient experiences, including both benefits and drawbacks of early diagnosis, must inform discussions on newborn screening for FD.
• Incorporating patient-reported outcomes is essential for developing effective and patient-centered NBS strategies for Fabry disease.