Background: Glucose transporter type 1 deficiency (Glut1 deficiency or G1D) is a rarely diagnosed genetic condition where glucose doesn’t reach and fuel the brain properly, resulting in seizures, movement disorders, developmental delays, and a wide range of other neurological symptoms. There’s an overall lack of awareness and education in general for G1D, but it’s especially true for adult patients, which translates to a lack of information about symptoms, treatment options, and available services and supports to help patients better manage their condition and have a better quality of life.
Proposed Solution: The Adult Experiences in Glut1 Deficiency project aims to address the problem by conducting the first-ever large-scale survey of adult patients and using the knowledge to foster discussions, share experiences, and build resources to better address patient needs and lead to better care. The project team will organize special sessions for the first time for adult patients during its biennial family and professional conference, which will serve as a platform for the objectives of the project. It will take place at Hilton Crystal City in Arlington, Virginia on July 11-12, 2019.
- Identify gaps in knowledge and understanding about Glut1 deficiency in adulthood
- Collect adult Glut1 deficiency experiences from stakeholders through engagement activities
- Analyze the data and information and share the findings to help fill the knowledge gaps
Activities: Activities will include a survey, presentations, panel and roundtable discussions, interviews, and a poster session to provide the data to inform new resources to be created for sharing the findings.
Expected Project Outcomes and Impact:
- Greater understanding of adult patient experiences will lead to better treatment options, better outcomes, more support and services, and better quality of life.
- New adult-centered patient resources to better educate stakeholders
- Ongoing collaborations among stakeholders to continue to identify and address needs
Patient and Stakeholder Engagement: Patient engagement has been the impetus for the project through feedback, sharing of experiences, and asking questions that seem to have no answers. The Adult Experiences in Glut1 Deficiency project seeks to help fill these gaps through further engagement. A patient and caregiver survey has been created, fully engaging partners in the process. During the conference sessions, stakeholders will have the opportunity to provide feedback to the presentations, and suggest areas where more information, clarity, or input is needed. Patients and stakeholders involved in the project will include those who have been previously engaged with related efforts and those newly recruited who will have the opportunity to engage for the first time.
Project Collaborators: The board of directors and the medical and scientific advisory boards will be available to support and advise on behalf of the Glut1 Deficiency Foundation. Mackenzie Cervenka, MD, of Johns Hopkins Hospital will continue to collaborate on the survey and assist in analyzing and disseminating the data in meaningful ways. Kris Engelstad, MS, of Columbia University Medical Center will help coordinate and lead the patient engagement sessions and will provide the conference summary. Several stakeholders will provide targeted presentations to integrate findings in the social, emotional, and vocational areas.