FAQ (13)
Copy of Offering Hope Through the Ketogenic Diet
Written by Bradford BosleyThe Charlie Foundation to Help Cure Pediatric Epilepsy was founded in 1994 after twenty month old Charlie Abrahams, having endured multiple daily seizures, and failed every available anti-convulsant drug and one brain surgery, was cured of his epilepsy by the ketogenic diet at Johns Hopkins Hospital. The diet was undertaken despite resistance from the five pediatric neurologists he had seen.
When Charlie's parents realized that Charlie was but one of hundreds of thousands of children whose families were either not being informed, or being misinformed about dietary therapy, they started The Charlie Foundation in order to objectively provide this information and empower parents of those children, educate doctors, hospitals, dietitians, and nurses about proper implementation of the diet, and facilitate scientific research into its mechanisms.
Our progress has been significant. Today it has been confirmed in both vast anecdotal and Class 1 studies that the ketogenic diet improves most children with intractable seizures and, like Charlie, cures many. With our sponsorship, Medical Consensus Guidelines regarding the diet’s use and implementation were published in 2008. There are over 150 hospitals worldwide with ketogenic diet programs. We have additionally sponsored and run over 125 ketogenic diet seminars and training sessions, been involved in the publication of six books, produced one ABC television movie ("first do no harm"), been featured on Dateline NBC on three occasions, and been recognized in periodicals from "People Magazine," to the medical journal "Epilepsia."
Despite these efforts, the diet remains unavailable to most children. The fact remains that if a child’s seizures continue after 2-3 seizure medications have been trialed, the ketogenic diet should be considered. Today, many parents still medicate their children well beyond these guidelines and submit to other invasive procedures before learning those very children can get better by temporarily changing what they eat.
Our hope is that the information contained on this website will support educated decisions about treatment and implementation of dietary therapy for children and others with epilepsy.
The Charlie Foundation to Help Cure Pediatric Epilepsy was founded in 1994 after twenty month old Charlie Abrahams, having endured multiple daily seizures, and failed every available anti-convulsant drug and one brain surgery, was cured of his epilepsy by the ketogenic diet at Johns Hopkins Hospital. The diet was undertaken despite resistance from the five pediatric neurologists he had seen.
When Charlie's parents realized that Charlie was but one of hundreds of thousands of children whose families were either not being informed, or being misinformed about dietary therapy, they started The Charlie Foundation in order to objectively provide this information and empower parents of those children, educate doctors, hospitals, dietitians, and nurses about proper implementation of the diet, and facilitate scientific research into its mechanisms.
Our progress has been significant. Today it has been confirmed in both vast anecdotal and Class 1 studies that the ketogenic diet improves most children with intractable seizures and, like Charlie, cures many. With our sponsorship, Medical Consensus Guidelines regarding the diet’s use and implementation were published in 2008. There are over 150 hospitals worldwide with ketogenic diet programs. We have additionally sponsored and run over 125 ketogenic diet seminars and training sessions, been involved in the publication of six books, produced one ABC television movie ("first do no harm"), been featured on Dateline NBC on three occasions, and been recognized in periodicals from "People Magazine," to the medical journal "Epilepsia."
Despite these efforts, the diet remains unavailable to most children. The fact remains that if a child’s seizures continue after 2-3 seizure medications have been trialed, the ketogenic diet should be considered. Today, many parents still medicate their children well beyond these guidelines and submit to other invasive procedures before learning those very children can get better by temporarily changing what they eat.
Our hope is that the information contained on this website will support educated decisions about treatment and implementation of dietary therapy for children and others with epilepsy.
When should the diet be considered?
Approximately 70% of children who develop epilepsy will respond to pharmacologic treatment but about 30% will develop difficult to control seizures or experience ill-effects from antiseizure medication. These are the children that may benefit from dietary therapies. A consensus report from a panel of 26 pediatric epilepsy specialists and dietitians concluded that "the ketogenic diet should be strongly considered in a child who failed two to three anticonvulsant therapies, regardless of age or gender, and particularly in those with symptomatic generalized epilepsies" (Epilepsia 2008). In addition, the group recommends using diet therapy early in a child's life when diet is easier to control.
Who can be helped by the diet?
Children with epilepsy from infancy through adulthood may be helped by the diet. The published reviews and studies on the diet consistently show that 50-75% of children with difficult to control seizures of all types are helped by the diet. Some children, especially those over the age of 5 years may find the diet difficult to follow due to its strictness. Creative recipes and more liberal ratios have helped to make the diet more enjoyable.
What syndromes and have been found to benefit from the diet?
- Glucose transporter type 1 deficiency syndrome
- Pyruvate dehydrogenase deficiency
- Myoclonic epilepsies:
- Myoclonic-astatic epilepsy (Doose syndrome)
- Severe myoclonic epilepsy of infancy (Dravet syndrome)
- Tuberous sclerosis complex
- Rett syndrome
- Infantile spasms
- Certain mitochondrial disorders:
- Phosphofructokinase deficiency
- Glycogenosis type V
- Mitochondrial respiratory chain complex disorders
- Landau-Kleffner syndrome
- Lafora body disease
- Subacute sclerosing panencephalitis
Are there any contraindications to the use of the diet?
Individuals with the following deficiencies or defects should not be placed on the diet. Serious adverse effects could result.
- Carnitine deficiency (primary)
- Carnitine palmitoytransferase (CPT) I or II deficiency
- Beta-oxidation defects
- Pyruvate carboxylase deficiency
- Porphyria
Are there certain children who may have difficulty following the diet?
Children with chewing or swallowing problems or are struggling to eat a regular diet may have difficulty with the ketogenic diet. It is recommended that these children have a Feeding Evaluation before proceeding.
Are there benefits to diet therapy other than seizure control?
Some children experience benefits in development and behavior on the ketogenic diet. This may be experienced as an effect of the diet and also if seizure medications are reduced as a result of improved seizure control.
What is pyruvate dehydrogenase complex deficiency?
Written by Bradford BosleyWhat is pyruvate dehydrogenase complex deficiency (PDCD)?
PDCD is a problem within the energy making cells of the brain called mitochondria. The mitochondria make energy for other cells to grow and develop. Mitochondria need many enzymes in order to work properly. In this disorder, an enzyme is not available in adequate amounts to help make energy.
Is it contagious?
PDCD is not contagious. It is passed on through recessive genes. Genes come in pairs. Recessive inheritance means both genes in a pair must be defective to cause a condition. People with only one defective gene in the pair are considered carriers. However, they can pass the abnormal gene to their children.
How is it diagnosed?
A blood level of lactate and pyruvate will be elevated (although these may be elevated in other conditions). Blood and urine levels of certain proteins called amino acids may also be elevated. Another compound in the blood called ammonia may be elevated, especially during illness. Imaging studies such as an MRI can show structure problems in the brain.
What are the symptoms?
Symptoms usually start in infancy but may start at birth or in later childhood. These symptoms may include developmental delay, poor muscle tone, abnormal eye movements, difficulty walking and seizures.
Is this syndrome common?
PDH is considered a rare condition but one of the most common neurodegenerative disorders that is related to a problem in the mitochondria's ability to make energy.
What is the treatment?
According to a recent publication in 2008 by a group of medical experts, the Ketogenic Diet is the treatment of choice for PDCD. More information about this diet can be found under the FAQ link of our web-site:charliefoundation.org.
What benefits can be expected if the ketogenic diet is started?
Increased alertness and ability to learn are usually experienced soon after starting the ketogenic diet. Detecting this disorder early is the key to helping the brain receive the energy it needs to grow and to develop.
Position Statement on the Use of Diet Therapies for Pediatric Epilepsy
The ketogenic diet has consistently been documented to effectively treat epilepsy in thousands of children since 1924. In the last fifteen years over 750 peer-reviewed articles regarding its success, implementation, and scientific mechanisms have been published. Two major reports which included 44 reviews of over one thousand children who received ketogenic diet treatment confirmed that at least half benefited with a 50% or greater improvement in seizure control. 1,2 One controlled and randomized (Class 1) study published in 2008 also provided the long awaited scientific proof that the ketogenic diet is an effective therapy and a valid option for treatment of epilepsy. 3 A 2008 consensus report from 26 worldwide experts concluded that the ketogenic diet "should be offered to a child after two anticonvulsants (medications) are used unsuccessfully." 4
It is our belief that this therapy has stood the test of time. The concern that it is "too difficult" should not be judged by the health care provider, but rather the family equipped with sufficient knowledge of the diet.
There are two newer diet therapies that have been developed in recent years—the Low Glycemic Index Treatment and modified Atkins diet. At this time the evidence reveals positive results, however these newer therapies have been studied in small numbers, over short periods of time, and should be reserved for when the ketogenic diet is not an option. There are many instances in which children with some improvement with these alternate diets have achieved greater seizure control when transitioned to the ketogenic diet, but the opposite is not true. Ultimately it is our hope that the therapy for each child be determined through a careful process of informed joint decision making between families and their health care providers.
- Lefevre F, Aronson N. Ketogenic diet for the treatment of refractory epilepsy in children: a systematic review of efficacy. Pediatrics. 2000;105(4):e46.
- Henderson CB, Filloux FM, Alder SC, Lyon JL, Caplin DA. Efficacy of the ketogenic diet as a treatment option for epilepsy:meta-analysis. J Child Neurol. 2006;21(3):193-198.
- Neal EG, Chaffe H, Schwartz RH, et al. The ketogenic diet for the treatment of childhood epilepsy: a randomised controlled trial. Lancet Neurol. 2008;7(6):500-506.
- Kossoff EH, Zupec-Kania BA, Amark PE, et al. Optimal clinical management of children receiving the ketogenic diet: recommendations of the international ketogenic diet study group. Epilepsia. 2009;50(2):304-317.
Frequently asked questions about the modified Atkins diet
What is the modified Atkins diet?
The original Atkins diet is a very low in carbohydrate and was developed as a weight reduction therapy. The term "modified" describes the lower carbohydrate limit compared to Atkins recommendations and the emphasis of high fat foods as is required on the ketogenic diet.
Who developed this diet?
The modified Atkins diet was created at Johns Hopkins Hospital to offer a less restrictive dietary treatment primarily for people who would be unable to follow the ketogenic diet.
How effective is the diet at controlling or eliminating seizures?
Prospective studies from 4 hospitals have shown preliminary evidence that the modified Atkins diet is effective in improving seizure control in 45% of the patients who have trialed it. Further pediatric and adult studies are underway.
How is the modified Atkins diet designed?
The modified Atkins diet plan approximates a 1:1 ratio of fat: carbohydrate and protein, compared to a typical 3:1 or 4:1 ketogenic diet. Low carbohydrate foods and meals can also be eaten in restaurants, making the diet more accessible, especially for adolescents and adults. This liberal therapy is being used as an alternative to the strict ketogenic diet and as a stepdown diet after the traditional ketogenic diet.
Can the diet be used for children with feeding tubes?
Special ketogenic formulas are designed for this purpose and are optimal for individuals with feeding tubes. These formulas are based on the ratio system of 4:1 and 3:1.
Are there any special tests that are needed before starting the diet?
There are blood tests that may be needed to determine if the diet is safe. These include metabolic tests to rule-out fatty acid disorders or a carnitine deficiency. Medical supervision and laboratory surveillance are recommended during modified Atkins similar to the ketogenic diet.
Frequently asked questions about Low Glycemic Index Treatment (LGIT)
Edited by Heidi H. Pfeifer, RD, LDN, Clinical Dietitian at Massachusetts General Hospital
What is the Low Glycemic Index Treatment (LGIT)?
The LGIT is a special high fat diet similar to the ketogenic diet that is used for difficult to treat seizures. It focuses on both the type of carbohydrate, low glycemic index, as well as the amount of carbohydrate based on portion sizes and household measurements. The glycemic index (GI) is a measure of the effect of carbohydrates on blood sugar levels.When carbohydrates are digested, they release glucose into the bloodstream. Carbohydrates that digest rapidly have a high GI. Carbohydrates that are digested slowly have a low GI. Foods are rated based on their GI values ranging from zero to 100. The LGIT includes foods that have a GI of 50 or lower. In addition to the GI, the digestion of a carbohydrate food is slowed by foods that are eaten at the same time that contain either fat or fiber. Therefore, meals are balanced with sources of fat, protein and a low glycemic index carbohydrate.
Who developed this diet?
The LGIT was developed in 2002 by Dr. Elizabeth Thiele and dietitian Heidi Pfeifer at Massachusetts General Hospital in Boston, MA. They wanted to offer an option of a more liberal diet in addition to the classic ketogenic diet to their patients. The first publication of the treatment's efficacy was reported in 2005.
How effective is the diet at controlling or eliminating seizures?
In the most recent publication looking at the efficacy, safety and tolerability of those patients treated with the LGIT, after 6 months, 34% had a >90% reduction, 20% had 50-90% reduction, 20% had <50 % reduction and 26% had no change or increase in seizures. Although the LGIT is less restrictive than the ketogenic diet, about ¼ of families who have used this treatment report that it is too difficult to follow long-term.
How is the LGIT diet designed?
A calorie level is determined by a dietitian for each child based on their age, activity level and current calorie intake. The dietitian devises nutrition goals that meet the required fat, protein and carbohydrate for each meal. A typical meal includes a carbohydrate source such as small amount of fruit or vegetable, and/ or low glycemic carbohydrate bread or pasta, a protein rich food such as meat, fish, poultry or cheese, and a source of fat such as heavy cream and butter or vegetable oil. Since the LGIT limits the carbohydrates that are consumed vitamin and mineral intake is decreased and therefore supplements are recommended based on individual needs to prevent a nutritional deficiency.
How do you begin the LGIT diet?
The diet is started under the guidance of a dietitian and neurologist familiar with the use of dietary therapy of epilepsy. The education and initiation is done following an outpatient visit. Depending on the patient it can be gradually introduced or goals can be started on day one. Since the LGIT is not intended to place the individual into a metabolic state of ketosis, it is less likely to cause problems like low blood sugar or nausea.
Can the diet be used for children with feeding tubes?
The LGIT is not used for children who receive 100% of their nutrition through tube feedings. They are initiated on the ketogenic diet as the special ketogenic formulas are designed for this purpose and are optimal for individuals with feeding tubes. These formulas are based on the ratio system (4:1, 3:1) and are considered low glycemic due to their low-carbohydrate, high-fat composition.
Are there any special tests that are needed before starting the diet?
There are blood tests that may be needed to determine if the diet is safe for your child. These include metabolic tests to rule-out fatty acid disorders or a carnitine deficiency. Laboratory surveillance is recommended during LGIT similar to the ketogenic diet and are done at baseline and their follow up clinic visits at intervals of 1 month post diet initiation and then every three months.
To hear a personal experience of the use of the LGIT, copy and paste this link into your browser, then click on Rose. http://www.massgeneral.org/childhoodepilepsy/
Frequently asked questions about the ketogenic diet
What is the ketogenic diet?
The ketogenic diet is a special high-fat diet that is used for difficult to treat seizures. Heavy cream, butter and vegetable oils provide the necessary fat. The diet also completely eliminates sweets such as candy, cookies, and desserts. Other carbohydrate rich foods such as bread, potatoes, rice, cereals, and pasta are not allowed on the strictest form of the diet, but are allowed on more liberal forms of the diet. All foods must be carefully prepared and weighed on a gram scale. Each meal must be eaten in its entirety for the diet to be most effective.
Who can be helped by the diet?
Children with seizures from infancy through the teenage years may be helped by the diet. There is no way to predict beforehand whether it will be successful. Traditionally the diet has been used for children with myoclonic, atonic and tonic-clonic seizures. In every decade since the 1920's, studies consistently show that 50-75% of children with difficult to control seizures of all types are helped by the diet. Children over the age of 5 years may find the diet difficult to follow due to its strictness. New and creative recipes have helped to make the diet more palatable in the past few years.
How effective is the diet at controlling or eliminating seizures?
The diet has never been evaluated in a controlled scientific study. Studies that have followed children on the diet for long periods reveal that 1/3 of children treated with the ketogenic diet have greater than 90% seizure control with half of these children becoming seizure free. An additional 1/3 gain a 50% reduction in seizures. The remaining 1/3 discontinue the diet due to its ineffectiveness or its difficulty.
How does the diet work?
No one is certain how the diet works. A metabolic change occurs in the body which affects brain chemistry. One theory attributes the anti-seizure effect of the diet to the ketones that the ketogenic diet produces. Ketones are the products of fat breakdown. Our body normally burns glucose (sugar) for energy. The body can use these ketones as a source of energy instead of glucose. The ketones circulate through the blood in the body and then are excreted into the urine.
How is the diet prepared?
Ketosis is produced by eating a balance of foods that provide just the right amount of fat, protein and carbohydrates. A calorie level is determined by a dietitian for each child based on their age and activity level. To achieve a desired level of ketosis, the diet is calculated in terms of ratios such as 4:1, 3:1, and 2:1. In a 4:1 ratio, there is 4 times as much fat as there is protein and carbohydrate combined. The dietitian devises meal plans that complete the required fat, protein and carbohydrate for each meal. Each meal plan indicates the exact gram weight of each food which must be weighed on a gram scale. A typical meal includes a small amount of fruit or vegetable, a protein rich food, and a source of fat such as heavy cream and butter or vegetable oil.
Will anti-seizure medications be reduced after my child goes on the diet?
If the child is on more than one anti-seizure medication, one may be reduced as the child starts the ketogenic diet. The reduction of remaining seizure medication may be made if the child's seizures improve over time. Some children are able to have their medications completely discontinued. Medications may act stronger with the ketogenic diet therefore close medical monitoring is necessary.
How do you begin the diet?
The diet is started under close medical supervision. The diet is begun gradually and increased to the full amount over a 3 to 4 day period. During this time blood sugar and ketone levels are monitored. A fasting period is not necessary to start the diet according to recent studies.
How soon does it take for the diet to reduce or eliminate seizures?
The diet can become effective immediately or can take several months. Each child is unique and has different seizure patterns and frequency. There is usually improvement within the first 10 weeks on the ketogenic diet.
What would happen if my child "cheated" on his/her diet?
If a child ate or drank something that was not part of his/her diet, they could experience a seizure within a short period of time.
Is the diet healthy for my child?
The diet alone does not contain enough vitamins or minerals. A nutritional deficiency could develop without supplements. Special vitamin and mineral supplements are prescribed for each child while on the ketogenic diet. It is also important that the child drink adequate liquids while on the diet.
How long is the diet used for?
The diet is generally used for a period of 2-3 years if it is helpful in reducing or eliminating seizures. If the diet is not helpful, it will be stopped within a few months.
Are there any adverse effects of the ketogenic diet?
The most common adverse effect of the diet is constipation. There are dietary options to prevent this problem including eating high fiber vegetables that are allowed on the diet and drinking enough water. A less common adverse effect is kidney stones. This problem can be prevented by making sure that the child drinks adequate water. The two anti-seizure medications which can cause acidosis andkidney stones should be monitored very closely with the ketogenic diet are Zonegran® and Topamax®.
Will my child gain too much weight with this high fat diet?
The ketogenic diet is calculated at a specific calorie level for each child. The dietitian will keep track of your child's growth to determine if a change in calories is needed to ensure normal growth.
Will the diet cause high cholesterol?
Most children do not develop high cholesterol levels while on the diet. If a child develops high cholesterol or lipids, the diet can be modified to lower these. Lipid levels are drawn prior to starting the diet and at regular intervals throughout the course of the diet.
Can the diet be used for children with feeding tubes?
The ketogenic diet can be provided to children with feeding tubes. Special ketogenic formulas are designed for this purpose. A dietitian will determine the type and amount of formula for your child.
Are there any special tests that are needed before starting the diet?
There are blood tests that may be needed to determine if the diet is safe for your child. These include metabolic tests to rule-out fatty acid disorders or a carnitine deficiency.
Are there other diets that can reduce seizures?
The Atkins and the Low Glycemic Index diets are low carbohydrate diets that are less restrictive than the traditional ketogenic diet. Studies are in progress to determine how beneficial these diets are and who will benefit from them. Read about these diets in the FAQ link of our website.
What are infantile spasms?
Infantile spasms are a specific type of epilepsy syndrome that usually begins in infancy. Infantile spasms are (IS) typically observed between 3-8 months of age. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. More than half of children with IS will develop other types of seizures. There appears to be a close relationship between IS and Lennox-Gastaut Syndrome, an epilepsy syndrome of later childhood.
What is West syndrome?
West Syndrome is characterized by three conditions; 1) infantile spasms, 2) developmental regression, and 3) a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves).
What is the treatment for infantile spasms?
A steroid called adrenocorticotropic hormone (ACTH) is the standard drug that is used to treat infantile spasms. This medication can have serious side-effects and is therefore limited to shortterm use. Recent evidence has shown that the ketogenic diet is not only more effective than ACTH but has fewer side-effects and better long-term success. Researchers at Johns Hopkins compared infants with new-onset infantile spasms who were treated with the ketogenic diet to those who were treated with ACTH. The ketogenic diet stopped spasms in nearly two-thirds of cases, and there were fewer side effects and relapses than those treated with ACTH. In addition, the cost of ACTH in 2009 is approximately $8000 each day. The cost of a ketogenic formula for an infant is less than $15 each day. The ketogenic diet is now offered as a first-line therapy to parents whose children have been diagnosed with new-onset infantile spasms at John's Hopkins Hospital in Baltimore, Maryland. Epilepsia, 2008,49(9)1504-09.
To learn more about infantile spasms and to enroll in a study that will help to better diagnose and treat this syndrome visit: http://infantilespasms.wustl.edu
What is Glucose Transporter Deficiency Syndrome?
Written by Bradford BosleyEdited by Jörg Klepper, P.D., Dr. Med,. Dept of Pediatric Neurology, Klinkum Aschaffenburg, Germany
What is Glucose Transporter Deficiency Syndrome?
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a defect in carrying glucose into the brain. Glucose is the essential fuel for the brain and is provided from carbohydrates in the diet. The transport defect results in an "energy failure" in brain.
Is it contagious?
GLUT1 is not contagious. For most people, it is a novel genetic mutation in a particular gene known as SLC2A1. Some cases follow an autosomal-dominant transmission. This means that you only need to get the abnormal gene from one parent in order to inherit the condition. About 30% of individuals do not have a gene mutation and therefore the cause is unknown.
How is it diagnosed?
It can be diagnosed by a low concentration of glucose in the spinal fluid. It can also be diagnosed by testing of glucose transport in red blood cells. Genetic testing for the SLC2A1 gene confirms this syndrome in about 70% of cases.
What are the symptoms?
Most patients show symptoms of this syndrome in infancy and early childhood with epilepsy, global developmental delay, and a complex movement disorder.
Is this syndrome common?
Glut1 is considered a rare condition however it is likely that it is not being tested for and therefore it may be more common than thought.
What is the treatment?
According to a recent publication in 2008 by a group of medical experts, "The Ketogenic Diet is the treatment of choice for Glut 1". These experts also agree that in the vast majority of patients, seizure control by the ketogenic diet is sufficient and that anti-seizure medication can be withdrawn. The ketogenic diet is a high-fat, low-carbohydrate, moderate protein diet. More information about this diet can be found under the FAQ link of our website: charliefoundation.org.
What benefits can be expected if the ketogenic diet is started?
Increased alertness and ability to learn are usually experienced soon after starting the ketogenic diet. In addition, improvement in muscle strength and walking are often experienced. Detecting this disorder early is the key to helping the brain receive the energy it needs to grow and to develop.
How long should the diet be followed?
The diet should be maintained strictly especially during childhood years. Some doctors agree that a more liberal diet may be used during adulthood such as lower ratios of 2:1 or 1:1, the Low Glycemic Index Treatment or the Modified Atkins Diet.
