Adult Experiences in Glut1 Deficiency Project
Project Goals:
Overall there is a lack of education in the medical community regarding signs and symptoms of Glut1 Deficiency. This translates to large numbers of undiagnosed patients and a lack of information, understanding, services, and support provided to patients with Glut1 Deficiency and their families. This is especially true for older patients already in or transitioning to adulthood and seeking care from medical professionals that care for adult patients. The recognition of the disease and information available to patients, families, and healthcare providers are greater in the pediatric population, but as our patient population ages, there is a great need for dissemination of information, services, and support to help patients better manage their condition, better understand their choices in their own healthcare, to optimize treatment efficacy, obtain more independence, and to better integrate into society.
Parents, usually lifelong caregivers to their children with Glut1 Deficiency, have identified a need for more information, support, and services so they are prepared for what to expect to better help their children make a successful transition to adulthood - physically, mentally, and socially. Even expert healthcare providers lack understanding and knowledge about adult experiences in Glut1 Deficiency and how this may change as the brain of a patient with Glut1 Deficiency matures. Two natural history studies have shown some generalities for the evolution of symptoms, treatment options, and efficacy as patients reach adulthood; however, there are many adult patients who do not fit these patterns and there is much that is still unknown about the adult experience.
Despite their many challenges, patients with Glut1 Deficiency Syndrome are characteristically cheerful and highly social, and opportunities to foster independence and remain engaged and integrated in society are extremely importantand can have a very positive impact on quality of life. Good understanding of the condition and the tools to make informed decisions about managing it are the building blocks to this success.
The Adult Experiences in Glut1 Deficiency Syndrome project aims to help address these challenges by conducting the first ever large scale survey of adults with Glut1 Deficiency Syndrome and their caregivers and using the knowledge and experience to foster discussions and identify resources to better address patient needs and improve clinical care. Once we have identified these unmet needs, the long-term goal is to use the resources of the Glut1 Deficiency Foundation, the world’s leading patient advocacy organization for Glut1 Deficiency, to implement strategies to meet these needs. We plan to organize special conference sessions for the first time for adult patients during our biennial family and professional conference. Survey results will help build the foundation for the sessions, and the conference experience will provide an opportunity to share the results of the surveys, receive additional responses and feedback through various forums during the conference, begin to address the identified needs through conference presentations, and continue incorporating patient experiences and engagement to create resources to share to better inform patient care beyond the patients, families, and healthcare professionals in attendance.
Parents, usually lifelong caregivers to their children with Glut1 Deficiency, have identified a need for more information, support, and services so they are prepared for what to expect to better help their children make a successful transition to adulthood - physically, mentally, and socially. Even expert healthcare providers lack understanding and knowledge about adult experiences in Glut1 Deficiency and how this may change as the brain of a patient with Glut1 Deficiency matures. Two natural history studies have shown some generalities for the evolution of symptoms, treatment options, and efficacy as patients reach adulthood; however, there are many adult patients who do not fit these patterns and there is much that is still unknown about the adult experience.
Despite their many challenges, patients with Glut1 Deficiency Syndrome are characteristically cheerful and highly social, and opportunities to foster independence and remain engaged and integrated in society are extremely importantand can have a very positive impact on quality of life. Good understanding of the condition and the tools to make informed decisions about managing it are the building blocks to this success.
The Adult Experiences in Glut1 Deficiency Syndrome project aims to help address these challenges by conducting the first ever large scale survey of adults with Glut1 Deficiency Syndrome and their caregivers and using the knowledge and experience to foster discussions and identify resources to better address patient needs and improve clinical care. Once we have identified these unmet needs, the long-term goal is to use the resources of the Glut1 Deficiency Foundation, the world’s leading patient advocacy organization for Glut1 Deficiency, to implement strategies to meet these needs. We plan to organize special conference sessions for the first time for adult patients during our biennial family and professional conference. Survey results will help build the foundation for the sessions, and the conference experience will provide an opportunity to share the results of the surveys, receive additional responses and feedback through various forums during the conference, begin to address the identified needs through conference presentations, and continue incorporating patient experiences and engagement to create resources to share to better inform patient care beyond the patients, families, and healthcare professionals in attendance.
How You Can Help:
Complete the Survey: Adult patients or their caregivers are asked to complete the research survey about their experiences. The survey is open to patients 18 and older from anywhere in the world. Dr. Mackenzie Cervenka, adult neurologist and ketogenic diet specialist at Johns Hopkins Hospital and member of the Glut1 Deficiency Foundation Medical Advisory Board, will be conducting the survey and analyzing and sharing the results through this IRB approved research effort. Survey deadline is December 5th.
Attend the Conference: Adults and their caregivers will have the opportunity to participate in special conference programming to further share and discuss their experiences and to gather resources and information based on the survey information.
As part of a special grant the Glut1 Deficiency Foundation has just been awarded, adult patients age 18 and older are eligible for a limited number of $500 stipends to use towards the travel costs of attending the conference. More details will be shared as the grant process moves along. Please be sure to indicate the adult patient's age on the registration form so the G1DF can communicate with you further about the travel stipends as those details become available. Stipends will be paid at the conference or soon after it is finished. As in the past, conference registration is free for all patients.
As part of a special grant the Glut1 Deficiency Foundation has just been awarded, adult patients age 18 and older are eligible for a limited number of $500 stipends to use towards the travel costs of attending the conference. More details will be shared as the grant process moves along. Please be sure to indicate the adult patient's age on the registration form so the G1DF can communicate with you further about the travel stipends as those details become available. Stipends will be paid at the conference or soon after it is finished. As in the past, conference registration is free for all patients.
