We've put together an extensive list of resources to help you navigate so many aspects of living with this disease - medical, financial, advocacy, benefits, services, school, and more.
Some listed resources contain links to third party external sites where the Glut1 Deficiency Foundation has no responsibility for content or oversight of privacy practices.
Glut1 Deficiency Resources
- What is Glut1 Deficiency? Osmosis.org Video
- Key Terms in Glut1 Deficiency
- Educational Brochures
- Collective Voices in Glut1 Deficiency Project
- International Glut1DS Diagnosis and Treatment Consensus Guidelines
- Previous Conference Summaries
- Family Stories
- Family Recommended Specialists
- Glut1 Emergency Preparedness Presentation Slides
- Glut1 Deficiency Foundation Facebook Page
- COVID-19 Experiences in Glut1 Deficiency
Additional Glut1 Deficiency Information
- Genetics Home Reference
- Gene Review
- NORD Rare Disease Database
- International League Against Epilepsy - Epilepsy Genetics
- NIH Genetic and Rare Diseases Information Center (GARD)
- Epilepsy Foundation of America - epilepsy.com
Genetic Testing Resources
- Behind the Seizure no cost genetic testing for children under 60 months
- low cost genetic testing clinically diagnostic testing services
- Rare Genomes Project research study to determine causes of genetic diseases. This is an ideal program for suspected Glut1 Deficiency patients where mutations in the SLC2A1 gene have not been found in previous genetic testing.
Related Genetic Information
- Kris Engelstad, Certified Genetic Counselor and member of our Medical Advisory Board, discusses the genetics of Glut1 Deficiency
- Nonsense Mutation Foundation easy to understand videos explaining the role of genes and mutations in disease
- Cognition and Learning
- Sample School Letters for Glut1 Deficiency and the ketogenic diet: Letter 1, Letter 2
- Sample 504/Medical Plan
- Global Genes RARE Toolkit: The ABC's of Advocating in the Classroom
- Wrightslaw: legal resources on education law, special education law, and advocacy for children with disabilities
- My Child’s Special Needs: federal law information from the United States Department of Education
- Individuals with Disabilities Education Act (IDEA) IDEA guarantees that students receive help tailored to their unique needs
- My child’s special needs for school (IEP) A Guide to the Individualized Education Program
- Education Transition Self-Paced Training from the Pediatric Epilepsy Surgery Alliance
- Information and Resource Links
- The Charlie Foundation for Ketogenic Therapies ketogenic diet resources (based in the USA)
- Matthew’s Friends Ketogenic Dietary Therapies ketogenic diet resources (based in England)
- Keto Hope Foundation supporting families and dietitians
- Ketogenic Diet India ketogenic diet clinics and information (based in India)
- The Daisy Garland ketogenic diet resources (based in the UK)
- KetogenicBaby.com resources, connection, and support for parents, caregivers and patients who have been prescribed a medical ketogenic diet
Support Groups and Family Resources
- Glut1 Community Connect Private discussion forum on the Discourse platform.
Must be a member of the Family Network to participate in Glut1 Community Connect
- GLUT1 en Español Closed Facebook Group in Spanish
- Glut1 DS Care and Support International Closed Facebook Group
- Glut1mom.com Spanish blog from Glut1 parent Vivian Mathis
- DEE-P Connections resources and support for families living with developmental epileptic encephalopathies
- A Mother's Rest makes recuperative rest and respite available and affordable for parents and caregivers who have loved one with extra challenges
- Caregiver Connect is a series of modules created and kindly shared from the Dravet Syndrome Foundation. It is a unique program with a focus on helping families manage the caregiver burden and stress that accompany caring for a child with complex lifelong medical needs.
- Sibling Support Presentation from Jess Kruger during a G1DF Glut1 Gathering for parents and caregivers
- SibNet a closed Facebook group for adult brothers and sisters of people with disabilities
- Sibling Support Network the first national program dedicated to recognizing, promoting and addressing the life-long and ever-changing concerns of millions of siblings of people with developmental, health, and mental health concerns.
- Sibling Leadership Network offers resources, information, support, and tools for siblings of individuals with developmental disabilities to advocate with their brothers and sisters
- VIPSibling a resource focused on the experiences and and emotions of well siblings in rare epilepsy families
International Glut1 Deficiency Parent Groups
- Finland (brochures available here in Finnish translations)
- Spain: Asglutdiece, Aglut1nate
- United Kingdom and Ireland
- United States of America
Patient Advocacy Resources
- Social Security Benefits
- Easter Seals is a charitable organization that assists children and adults with disabilities and special needs.
- The ADA is a federal civil rights law that forbids discrimination based on disability in certain situations. The act defines a disability as a physical or mental impairment that substantially limits one or more major life activities.
- Global Genes RARE Toolkit: Navigating Health Insurance
- The Arc - promotes and protects the human rights of people with intellectual and developmental disabilities
- Special Olympics - through the power of sports, people with intellectual disabilities discover new strengths and abilities, skills and success
- Special Needs Alliance - nationwide attorney network providing services for special needs planning
- Understanding the Importance of Shared Decisions highlights important considerations when deciding on treatments or therapies and the leading role patients and families should play
Medical Travel Assistance
- Patient AirLift Services (PALS) is an organization whose mission is to arrange free air transportation based on need to individuals requiring medical care and for other humanitarian purposes.
- Miracle Flights provides individuals and their families free flights to distant, specialized care, including valuable second opinions, follow-up visits, and clinical trials. They also fly people to retrieve/train service dogs.
- Angel Flight NE coordinates free air and ground transportation for medically stable patients seeking medical care for healthcare conditions including rare and ultra-rare diseases that requires them to travel hundreds if not thousands of miles for the specialized care they need.
- C.U.R.E Citizens United for Research in Epilepsy
- Epilepsy Foundation Find your local Epilepsy Foundation chapter and many other resources.
- Seizure Tracker Log and track seizure activity, appointments, and medication schedules through a simple calendar interface.
- You Are Not Alone: Toolkit for Parents of Teens with Epilepsy – Department of Health and Human Services, Centers for Disease Control and Prevention, Epilepsy
- National Association of Epilepsy Centers Find specialized medical and surgical care for epilepsy
- Danny Did Foundation advancing awareness of epilepsy and Sudden Unexpected Death in Epilepsy (SUDEP)
- Seizure detection and alert devices (Danny Did Foundation)
- Preventing Epilepsy Deaths Toolkit
Movement Disorder Resources
Other Medical Resources
- Developmental Disabilities and Oral Health tips, information, and resources for caregivers and dental professionals to help better manage the oral health challenges for people with intellectual and developmental disabilities
- CHIP Children’s Health Insurance Program.
- Social Security Disability information for adults and children
- Medicaid makes it possible for certain low-income individuals and families to get health care when they could otherwise not afford it. It is available only to certain low-income individuals and families who fit into an eligibility group that is recognized by federal and state law. Medicaid sends payments directly to health care providers.
- Medicaid waivers are available in each state for certain individuals who do not meet the income limits that Medicaid requires. It may cover the expenses that primary health insurance does not.
- Patient Advocate Foundation
- Global Genes Webinar: Getting Financial Help - Qualifying for Disability and Other Insurance Matters
- Global Genes RARE Toolkit: Building a Stronger Financial Future
- National Organization of Rare Disorders (NORD): patient assistance programs and resources, including education support grants, COVID-19 relief, respite service, and more
Medication Assistance Programs
- Medicine Assistance Tool: MAT is a search engine with information on 900 public and private assistance programs that help those with financial need get access to their prescriptions
Hemlock Family Presentations
- Gifting a Good Life: presentation notes from the 2022 Glut1 Deficiency Foundation Family Conference with tips and strategies for planning for a full, happy life with your loved one
- A Gift of Hope: Hemlock family presentation notes from the 2022 Glut1 Deficiency Foundation Family Conference with thoughts on their tissue donation experience