Discover Resources for Families & Caregivers
From finding quality medical care to explaining symptoms and new terminology, we curate trusted resources to empower you and help you take the next step on the right path.
Newly Diagnosed
Are you or your loved one newly diagnosed?
Having an accurate diagnosis is a relief. But now, you might be navigating new fears. Our Newly Diagnosed resource hub serves as your roadmap as you learn more about GLUT1 Deficiency. There is hope and a community waiting for you!
Find a Specialist
Find the right medical specialist.
Explore our global list of family-recommended medical professionals who have experience in treating GLUT1 Deficiency patients to help you find qualified, quality, and compassionate care.
Ketogenic Diet
Take advantage of the benefits of ketogenic dietary therapy.
Currently, a medically supervised ketogenic diet is the best treatment for GLUT1 Deficiency —and the earlier you’re able to start it after a diagnosis the better. Browse our ketogenic diet resources to learn more about its benefits and how you can implement it.
PATIENTS, FAMILIES & CAREGIVERS
Explore how Glut1 Deficiency can affect each stage.
Infants and Toddlers
Typically, most GLUT1 Deficiency symptoms start to emerge in the first year of life, but that isn’t always the case. Unusual eye/head movements (aberrant gaze saccades or intermittent involuntary gaze) were reported by families as the most frequent first sign that something was wrong. These resemble opsoclonus or nystagmus and are sometimes mistaken for them, but the head movement component makes them unique and thought to be distinct to GLUT1 Deficiency. They often appear in infancy and typically stop by 5 or 6 years of age.
Seizures are also a frequent first symptom, most often appearing in infancy. These can be any type of seizure, but absence and myoclonic tend to be the most common and can sometimes be hard to recognize. There are other symptoms that may be difficult to recognize, too, until later, such as developmental delays or intellectual difficulties. Issues with muscle tone and balance are common in this stage and sometimes cause delays in reaching milestones like rolling over, crawling, walking, and toileting. Speech and language development may not be typical.
Children diagnosed at this age with GLUT1 Deficiency can expect to be put on the classical ketogenic diet (a 3:1 or 4:1 ratio), which helps ensure optimal symptom control for most and helps preserve brain growth and development. Ketogenic formulas are readily available commercially, and it is possible to integrate breastfeeding into a ketogenic diet plan. Early intervention programs can help provide support for different therapies and services that may be beneficial.
Children
Children with GLUT1 Deficiency can experience new symptoms at this stage, including new seizure types and new movement episodes. Ataxia may become more noticeable and so can spasticity and other involuntary movements. Some begin to have temporary hemiplegic episodes that can mimic a stroke, which can be particularly frightening but important to recognize and understand as part of the symptom picture for some patients.
Developmental delays and cognitive disabilities can become more recognizable at this stage, especially as children with GLUT1 Deficiency enter school and their challenges become more apparent. Speech and language disorders may continue to emerge, and attention and focus issues can negatively impact school performance. Early recognition of these challenges helps get appropriate support and accommodations in place, especially in the school and classroom setting, so that children with GLUT1 Deficiency can find academic success, social acceptance, and lay good foundations for future school experiences.
Children diagnosed at this age with GLUT1 Deficiency can expect to be placed on a classical ketogenic diet in most cases, but sometimes also a Modified Ketogenic Diet with a lower ratio. Early childhood is a period of rapid brain growth and development, the most intense in any stage of life, and ketogenic dietary therapies can help improve outcomes. Physical, occupational, speech/language, and other therapies can be beneficial in either the school or private practice setting.
Adolescents & Teenagers
Adolescence can be a time of change and a time of challenge for GLUT1 Deficiency patients. New symptoms can emerge, including new seizure types, and sometimes movement disorder episodes begin to happen for the first time or new types are experienced. Families may notice that there are triggers for these episodes, such as prolonged physical exertion, hunger, fatigue, illness, warm temperatures, and others. Anxiety can become more pronounced and social challenges can emerge around differences and inclusion, both from the impacts of the disease as well as the realities of following a ketogenic diet.
Ketogenic diets are still the recommended treatment for this age, but some experience reduced effectiveness or challenges in maintaining ketone levels as high as they need to be to experience the same benefits as in the past. Compliance can also begin to become more of an issue, so sometimes less restrictive versions of the diet, such as a Modified Atkins Diet may be tried that allow more flexibility. Some adolescents and teens may still need a Classical Ketogenic Diet to have the best symptom control. Various therapies can continue to be beneficial, and opportunities to participate in group programs and have extra social support can be helpful.
Adults
Although much remains to be understood about the adult experience in GLUT1 Deficiency, especially mid-life and senior years, it can be a continued time of change and challenge. For some adults, seizures can improve or even disappear, but for others, new seizure types can begin for the first time. Movement disorder episodes can increase in both severity and frequency, and new types can begin to occur as well. These movement episodes are especially challenging as they don’t always respond well to current treatments. Energy and stamina issues are also frequently reported.
Opportunities for social engagement and participation in regular routines become more difficult in adulthood once the formal school experience comes to an end, so it is important to plan early for this stage in life to help bridge the supports and opportunities found at school with new ones to take their place. Although ability levels do vary widely, this is a stage when the lack of independence caused by this disease can have the most impact on quality of life, and it is important to consider and plan for the long-term support that people with GLUT1 Deficiency might need across their lifespan. Research suggests that those who have been on a ketogenic diet do not experience loss of skills over time as they age, but there is little knowledge and experience in later adulthood. Life expectancy is not known to be impacted directly, but there are increased risks associated with any form of epilepsy for seizure-related deaths or SUDEP (Sudden Unexplained Death in Epilepsy).
Ketogenic diets can still be very beneficial in adulthood, even for those who do not receive their diagnosis until this stage of life. Compliance and lifestyle challenges can sometimes make a Modified Atkins Diet or Modified Ketogenic Diet more feasible at this stage. Physical, occupational, and speech therapy are also still beneficial, and many families report that moderate exercise can also help with symptoms. Transition of care from pediatric to adult medical providers is also an important process to plan for in advance.
Frequently Asked Questions
Explore more resources.
Find more support and information when you need it and are ready to take your next steps on this journey.
Overview
Find a comprehensive snapshot of information about GLUT1 Deficiency - what causes it, the spectrum of symptoms patients might experience, how best to diagnose it, and the treatment options.
GLUT1 Gatherings
Join us for our regular virtual meetings on Zoom to meet, share, and learn with other patients and families from all over the world who share this journey. Register for the Family Network to participate.
Key Terms
Find help learning the lingo of GLUT1 Deficiency, from seizure and movement types to speech and language disorders and genetic testing information. Find video examples of some of the symptoms.
Stories
Meet other families and learn about their individual experiences - some unique and some very familiar across the GLUT1 Deficiency community. Find inspiration and consider sharing your story, too!
Research
Learn more about the current research landscape, what biggest questions remain, who is helping look for those answers, and what new hope is on the horizon. Find out how you can play a role in driving progress.
Resources Collection
We've put together an extensive list of resources to help you navigate so many aspects of living with the impacts of GLUT1 Deficiency: medical, financial, advocacy, benefits, services, school, and more.
GLUT1 Community Connect
Turn to the real experts in the community - others who have been in your shoes and have wisdom and experiences to share. We've created a safe and secure place for families to meet, share, and learn on GLUT1 Community Connect - a private Facebook group and the only online forum managed, moderated, and screened by the G1DF.
Learn more about this group and how to join - then stop in, introduce yourself, and browse the conversations or start your own to find trusted information and a network of support.
