Surveying to enhance future support and empowerment of families at TGen’s Center for Rare Childhood Disorders
Today, approximately 12 million American children are living with rare genetic disorders that may affect several aspects of their lives. TGen’s Center for Rare Childhood Disorders sequences the DNA of children with rare disorders in an effort to provide an accurate diagnosis and personalized treatment options. Because The Center’s long-term impact on families and the rare disease community has not yet been measured, a 10-minute survey was developed for patients and their families to complete. In order to create an inclusive and straightforward questionnaire, suggestions from families, experienced surveyors, and scientists regarding survey content, structure, and wording were incorporated when designing questions. The survey will be administered at a future date online and in the mail. Survey questions will evaluate aspects of The Center’s performance, such as statistics on whole exome sequencing results and identification of any needs not met by The Center. The responses will also provide insight into these families’ everyday struggles and parental comprehension of genetic concepts as explained by The Center’s staff. Additionally, the data collected can be used to assess the parents’ ability to communicate with others in their community about the rare condition and how successfully TGen has provided them with support and preparation for the future. TGen staff will utilize the data to improve internal processes, identify unique needs of future families, and provide families with resources that will empower them to become their own advocates when interacting with the community. This survey will enable the staff at The Center for Rare Childhood Disorders to adapt practices to meet the unique needs of our families and bridge the gap between bench and bedside.