Background Fragile-X syndrome (FXS), being the most common form of inherited intellectual disability, remains a rare disorder. Families living with FXS and related conditions in British Columbia (BC) are believed to lack healthcare involvement with clinical expertise. Access to appropriate services, diagnostic assessments and specialised management recommendations is essential to optimal care for these patients.
Objectives Develop a clinical-model of multidisciplinary, family-centred care for FXS families; improved patient care through coordinated, specialist assessments; increased clinical expertise for healthcare professionals, and increased public and professional awareness of clinical services for FXS and related conditions.
Design/method The Fragile X and Related Conditions (FXRC) clinic was established January 2015 with Doctors of BC, Specialist Services Committee (DOBC/SSC) funding. A clinic coordinator was hired to implement.
Objectives Public and professional awareness of services is tracked through social media and referrals to the clinic. An FXRC conference is planned with leading FXS specialists providing relevant information to parents and professionals.
Results FXRC achievements include establishing a resource-based website, developing an active social media presence, and multiple presentations to differing medical disciplines including paediatrics, psychiatry and perinatal services. A retrospective chart review from medical genetics identified 65 local individuals with a personal or family history of FXS.
Conclusions FXRC implementation has been challenging despite DOBC/SSC support. Although early systemic barriers hindered clinic development, current feedback has been positive from a wide range of health and administrative professionals. Coordination of specialist care, together with identifying the spectrum nature of FMR1 disorders, has been key to our success.
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