Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by a deficiency in α-galactosidase that is frequently diagnosed late after disease onset. While previous studies have focused on the multisystem manifestations that can lead to delayed or incorrect diagnosis and management, none have investigated the entire patient journey, and few have examined the patient's disease experience.To investigate the path to diagnosis from disease onset, and the impact of the disease on daily life, among individuals with FD in Japan.A nationwide survey of patients with FD receiving enzyme replacement therapy (ERT) was conducted between March 27 and June 11, 2018. Participants were recruited via patient support groups or physicians. Respondents completed a questionnaire eliciting information on sociodemographic status, self-perceived health status, initial and current clinical manifestations, the process of diagnosis, and impact on their life. Responses were analyzed descriptively.Data from 40 respondents were analyzed (17 males and 23 females; 77.5% aged ≥30 years). Mean ERT duration was 7.7 years. Mean time from disease onset to diagnosis was 18.7 years (16.7 years [males] vs 20.3 years [females]). The final diagnosis was made most commonly by pediatricians (38%). Forty percent of respondents felt relieved and 30% felt anxious when diagnosed, and when initiating ERT, 48% felt more positive about their daily life. Nevertheless, 85% reported that treatment affected their lives/work, and most (73%) experienced difficulties in their relationships with others.Efforts are needed to achieve early diagnosis of patients with FD in Japan, to improve clinician awareness, and improve the psychosocial issues associated with FD.