(101) Investigation of the educational needs of people with a new diagnosis of CFTR-Related Disease

Background: The CFTR gene encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Malformation and/or dysregulation of this protein as a result of CFTR gene mutations can lead to a broad range of clinical consequences. Individuals who present with clinical concerns associated with CFTR dysfunction, but do not fulfill the diagnostic criteria for Cystic Fibrosis are identified as having CFTR-Related Disease [1] . This condition is poorly understood by the general population due to its variable clinical presentation, late age of onset and quality of educational resources – limited in their number, content and readability. In an effort to address this knowledge gap this study investigated the educational needs of people with a new diagnosis of CFTR-Related Disease to develop patient-centered health educational material.

Methods: Semi-structured interviews were conducted with consenting CFTR-Related Disease patients referred to the Adult Query Cystic Fibrosis clinic at St. Michael’s Hospital in Toronto, Canada in the last 5 years.

Results: Quantitative analysis revealed four common themes at the time of diagnosis. These included an understanding of the implications for family members, normalcy of presentation in adulthood, risk of developing Cystic Fibrosis and expected quality of life. A proportion of patients also addressed concerns regarding the length of time it took to receive a referral to the Cystic Fibrosis clinic.

Conclusions: These findings substantially improved our ability to develop meaningful and accessible web-based and printed educational materials. It also reinforced the need to educate and strengthen communication with related-specialties.

Acknowledgements:

References: [1] Levy H, Farrell PM. New challenges in the diagnosis and management of cystic fibrosis. The Journal of pediatrics. 2015 Jun 1;166(6):1337-41.