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There is a lack of information about knowledge gaps in the lysosomal storage disease (LSD) population, which limits the capacity for proper genetic counseling. This is the first study to discern these gaps and assesses if online information can fill them. This study consists of a pre-survey, a research period, and a post-survey. The pre-survey collects demographic information, tests knowledge, and determines participants’ questions. Questions are split into current and initial questions (from the time of diagnosis). Participants are then directed to ThinkGenetic.com, a source for accurate and current genetic information, for research at their leisure. The post-survey determines if knowledge scores improved and if questions were answered. 100 participants were recruited from the Emory University Lysosomal Storage Disease Clinic. 34 participants achieved perfect scores (5) on both surveys. Scores changed for 34 participants, in which all but 4 increased. The median increase was 1. All decreased scores lowered by 1 point. The majority of initial and current questions pertained to treatment. Initial questions also focused on daily living and general knowledge of the disease. Current questions also focused on daily living. 51 participants reported finding answers to their initial questions, whereas only 33 participants reported finding answers to their current questions. Participants reported that questions remained about treatment, research studies, and daily living, indicating that this is where their knowledge gaps lie. The data suggests that accurate online information can answer questions at the time of diagnosis. However, as they live longer with the disease, participants accumulate questions that may require further research. The small increase in knowledge scores is attributed to the small number of knowledge questions and the high baseline knowledge of the cohort. We will continue this study with more LSD patients, family members, and caregivers.

Fabry disease (FD) is a pan-ethnic, X-linked, progressive lysosomal storage disorder caused by pathogenic mutations in the GLA gene. Published case reports and abstracts suggest that decreased reproductive fitness may occur in males with FD. In order to understand the impact of FD on reproductive fitness and increase the accuracy of reproductive genetic counseling, this study examines a large, multi-centered population of individuals with FD to determine if males have reduced reproductive fitness. Study data were collected on 376 patients through two, gender-specific surveys distributed across the United States and Canada. The number of biological live-born children among individuals with FD was compared to statistics from the general population. Information was also collected on reduced sperm count, depression, pain, use of assisted reproductive technology, and reproductive choice. On average, females affected by FD had more biological live-born children (1.8) than males affected by FD (1.1). However, males affected by FD had an increased mean number of biological children (1.1) compared to the mean number of biological children fathered by men in the United States (0.9). Sixteen of the 134 males with FD reported oligospermia, which suggests that an infertility work up may be indicated for males having difficulty impregnating their partners. In our large multicenter sample, males and females with FD do not exhibit reduced reproductive fitness; on average they have more biological children than the general population in the United States. This information should assist clinicians in providing accurate reproductive genetic counseling and treatment for individuals with FD.