Background It is necessary to find out the difficulties experienced by patients with Fabry disease and their families, and to seek solutions for them. For this purpose, qualitative research with a patient-centered approach is useful.

Objectives The Objective of this study is to understand the various difficulties of patients with Fabry disease and to help them establish a comprehensive support system, medical, health, and welfare service system, and develop the direction and components of social and educational programs.

Methods The subjects of this study are patients who have been diagnosed with Fabry disease, and among them, are selected considering the selection and exclusion criteria, confirm consent for participation in the study after sufficient explanation, and then enroll. The target number of subjects is 10 people. Subjects who consented to the study had an in-depth interview centered on the in-depth interview questionnaire through the HA Research Institute, a specialized institution.

• The principle of saturation is observed by conducting 3 interviews per research subject.
• The duration of each interview per research subject is 50 to 60 minutes.
• All dictations of the research subjects were recorded with prior consent and then transcribed into a written copy.
• For 3 interviews, the number of interviews can be reduced to 1 or 2 by extending the interview time according to the research subject's request.
• As for the place of interview, the research counseling room at Severance Cardiovascular Hospital or the in-depth interview room in the HA Research Institute can be used, and the interview can be conducted at other places desired by the research subject at the request of the research subject.

Inclusion Criteria:

1. Subjects who have delayed diagnosis of Fabry disease or have experienced treatment refusal.
2. Subjects who have been diagnosed with Fabry name for more than 3 years or who have been treated for more than 1 year
3. Adults between the ages of 19 and 70 who have the ability to consent to participate in the research (excluding those subject to adult guardianship) and have the cognitive ability to dictate their experiences
4. Subjects who have experienced disadvantages and support in health-related quality of life, academic, job, family, social, and heterosexual relationships due to Fabry disease
5. Subjects who voluntarily gave written consent after hearing the explanation of the purpose and method of this clinical study

Exclusion Criteria:

1. Subjects who, in the opinion of the researcher, are unlikely to complete the study

Fabry patients