Resource Collection
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?(opens in new tab) Osmosis.org Video
- Key Terms in GLUT1 (opens in new tab) Deficiency
- Educational Brochures(opens in new tab)
- Parent Partner Peer Support Project
- Collective Voices in GLUT(opens in new tab)1 Deficiency Project
- International Glut1DS Diagnosis and Treatment Consensus Guidelines(opens in new tab)
- Previous Conference Summaries
- Family Stories
- Family Recommended Specialists
- Participate in Research
- GLUT1(opens in new tab) Emergency Preparedness Presentation Slides
- GLUT1 Deficiency Foundation Facebook Page(opens in new tab)
- Extra Support Services
- Future Planning Care Binder
Additional GLUT1 Deficiency Information
- (opens in new tab)Genetics Home Reference(opens in new tab)
- Gene Review(opens in new tab)
- NORD Rare Disease Database(opens in new tab)
- International League Against Epilepsy - Epilepsy Genetics(opens in new tab)
- NIH Genetic and Rare Diseases Information Center (GARD)(opens in new tab)
- Epilepsy Foundation of America - epilepsy.com(opens in new tab)
- Children's book/PDF from Dr. Maria Montenegro
- Resources and support for the Spanish-speaking community
Genetic Testing Resources
- GeneDX whole exome sequencing program for epilepsy
- Genome Medical genetic testing program with virtual support
- low cost genetic testing(opens in new tab) clinical diagnostic testing services
- (opens in new tab)Rare Genomes Project(opens in new tab) 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
- Probably Genetic offers free, at-home genetic testing for more than 4,000 rare diseases
- Project Find Out facilitates early and accurate genetic diagnosis of rare neurodevelopmental disorders in infants between 3-12 months. VIDEO
- SequenceMD genetic testing and counseling services
Related Genetic Information
- Kris Engelstad(opens in new tab), Certified Genetic Counselor and member of our Medical Advisory Board, discusses the genetics of GLUT1 Deficiency
- Genetic disease informational videos from NORD
- Cell and Gene Therapy resource from the ASCGT
School Resources
- Cognition and Learning
- Sample School Letters for GLUT1 Deficiency and the ketogenic diet: Letter 1, Letter 2
- Sample 504/Medical Plan
- (opens in new tab)(opens in new tab)Global Genes RARE Toolkit: Advocating for your child with a rare disease at their school(opens in new tab)
- Wrightslaw: legal resources on education law, special education law, and advocacy for children with disabilities
- Individuals with Disabilities Education Act (IDEA)(opens in new tab) IDEA guarantees that students receive help tailored to their unique needs
Ketogenic Diet
- Information and Resource Links
- The Charlie Foundation for Ketogenic Therapies(opens in new tab) ketogenic diet resources (based in the USA)
- Matthew’s Friends Ketogenic Dietary Therapies(opens in new tab) ketogenic diet resources (based in England)
- Keto Hope Foundation(opens in new tab) supporting families and dietitians
- The Daisy Garland(opens in new tab) 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 Facebook group from the Glut1 Deficiency Foundation for members of the Family Network
- Parent Partner Peer Support Project to provide individualized support, understanding, and encouragement from other parents on this journey
- GLUT1 en Español(opens in new tab) private Facebook group in Spanish
- GLUT1mom.com(opens in new tab) Spanish blog from GLUT1 parent Vivian Mathis
- DEE-P Connections(opens in new tab) 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.
Siblings
- Sibling Support Presentation from Jess Kruger during a G1DF GLUT1 Gathering for parents and caregivers
- SibNet(opens in new tab) 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(opens in new tab) a resource focused on the experiences and and emotions of well siblings in rare epilepsy families
International GLUT1 Deficiency Parent Groups
- Austria
- Australia
- Belgium
- Denmark(opens in new tab)
- Finland (brochures available here(opens in new tab) in Finnish translations)
- France
- Germany(opens in new tab)
- Italy(opens in new tab)
- Japan(opens in new tab)
- Netherlands(opens in new tab)
- Poland
- Romania
- Spain
- Sweden(opens in new tab)
- 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 has a number of toolkits to help patients, parents, and caregiver navigate a number of challenges around rare diseases
- The Arc(opens in new tab) - promotes and protects the human rights of people with intellectual and developmental disabilities
- Special Olympics(opens in new tab) - through the power of sports, people with intellectual disabilities discover new strengths and abilities, skills and success
- Special Needs Alliance(opens in new tab) - nationwide attorney network providing services for special needs planning
- Understanding the Importance of Shared Decisions(opens in new tab) 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)(opens in new tab) 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(opens in new tab) 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
Epilepsy Resources
- C.U.R.E Citizens United for Research in Epilepsy
- Epilepsy Foundation Find your local Epilepsy Foundation chapter and many other resources.
- Epilepsy Alliance America provides support, care, and service to those with epilepsy.
- 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(opens in new tab) 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
- Mejo is a web app that simplifies organizing, managing and sharing medical and care information for your loved ones
- G1DF Research Ready Series Information
- NORD Health Data and Research Training (English, Spanish)
Financial Assistance
- 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(opens in new tab)
- Global Genes RARE Toolkit: Building a Stronger Financial Future(opens in new tab)
- National Organization of Rare Disorders (NORD):(opens in new tab) patient assistance programs and resources, including education support grants, COVID-19 relief, respite service, and more
- The Arc(opens in new tab) - promotes and protects the human rights of people with intellectual and developmental disabilities - check local chapters for support services and financial assistance
- List of financial assistance programs and resources from EveryLife Foundation website
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Oracle Health Foundation(opens in new tab) assists with various clinical cost assistance, equipment not covered by insurance, as well as lodging and transportation related to care, and vehicle modification grants in the US and Canada
- Diaper assistance resource from the Child Neurology Foundation
Medication Assistance Programs
- Medicine Assistance Tool:(opens in new tab) 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