Living With Dravet Syndrome
Receiving a Dravet diagnosis for your child can feel like venturing into uncharted territory. We hope that this information will help you feel prepared for conversations with your child’s doctors and educators and with others in your community. Biocodex is committed to improving knowledge, so patients can receive earlier diagnoses and manage rare epilepsies, like Dravet syndrome.
What Is Dravet Syndrome?
Dravet (pronounced “drah-VAY”) syndrome is a rare, hard-to-treat form of epilepsy.3,17-19 It occurs in 1 in 15,700 births in the United States, and symptoms usually occur in the first year of a child’s life.24 Dravet syndrome is named after Dr. Charlotte Dravet, who in 1978 first described the condition as a syndrome. It was previously known as severe myoclonic epilepsy in infancy (SMEI).19
For patients with Dravet, brain scans and tests, like an initial electroencephalogram (EEG), may appear normal.21 For that reason, genetic testing is highly recommended and may support a diagnosis. Though not fully conclusive, research shows that over 85% of patients with Dravet syndrome have a mutation in the SCN1A gene.50 Genetic testing is available at no cost for children up to age 8 through the Behind the Seizure® program at Invitae.
The SCN1A Mutation
- The SCN1A gene impacts the sodium channels involved in transmitting signals between nerve cells.28
- The mutation is often “de novo” (or “new”), meaning that neither parent carries the mutation. Only about 5%-10% of cases are inherited from an asymptomatic parent.17
- Some patients will have a mutation in the gene and not have seizures. Other patients without the gene mutation might have seizures that look like Dravet syndrome.3
Treating Dravet Syndrome
Unfortunately, seizures associated with Dravet syndrome may not respond to the standard antiepileptic drugs, and some medications may even make the seizures worse.3 For children enduring regular seizures, understanding the underlying cause can help guide more precise treatment.
Getting seizures under control early can make a difference. Frequent and prolonged seizures can contribute to several medical and developmental issues, including an increased risk for sudden unexpected death in epilepsy (SUDEP), so it’s crucial to figure out the right combination of antiseizure medications for your child.3,20,21,54,55
Tatiana and Eliana’s Dravet Journey
A mother and caregiver shares her daughter’s Dravet syndrome diagnosis journey and success with DIACOMIT.
DIACOMIT® (stiripentol) is the only FDA-approved antiseizure medication developed specifically for seizures associated with Dravet syndrome in children as young as 6 months. It is indicated for children weighing 15 lb or more and taking clobazam.1 To learn how DIACOMIT helps families celebrate everyday wins, visit About DIACOMIT.
Review the Downloadable Discussion Guide
Organize your questions and observations to prepare for conversations with your child’s doctor.
What To Do During a Seizure
It can be overwhelming to watch your child experience a seizure. But you can help them. To keep your child as safe as possible and prevent injury, you can:41
Administer any emergency treatment that your healthcare provider has prescribed to control seizures.
Review the Centers for Disease Control and Prevention’s guidance on Seizure First Aid.
Tracking Your Child’s Seizures
It is also important to keep a record of your child’s seizures. A thorough record can help you and your child’s doctor understand triggers and evaluate potential treatment options. The free, comprehensive tools at seizuretracker.com can help. When tracking seizures, be sure to note the following:42
Length
- Track the time that the seizure begins and ends.
- Call 911 if the seizure doesn’t stop within 3-5 minutes or if your child does not fully regain consciousness.
- A prolonged seizure (status epilepticus) that lasts more than 5 minutes requires rescue treatment.
Activity
- Describe what your child was doing when the seizure occurred (e.g., walking outside in warm weather).
- Triggers differ from one child to the next. Possible triggers include:
- Lack of sleep
- Fever
- Illness
- Intense exercise
- Loud music
- Stress or feeling upset
Side
- Record whether the seizure occurred on one side of the body or on both sides.
Preparing for the Next Seizure
Because seizures can strike at any time, they can complicate simple daily activities and make spontaneous plans difficult. Each child will have a different experience with Dravet syndrome, but you know your child best. Talk to your child’s doctor about the following ways to address your child’s unique needs:41,43
- Learn seizure first aid and teach it to your family and friends. Information and digital classes are available at no cost through the Epilepsy Foundation.
- Write a family emergency response plan with your child’s doctor.
- Keep a rescue treatment on hand. Your child’s doctor may prescribe a fast-acting anti-seizure drug for emergencies.
- Explore your organization style (e.g., digital calendar apps, paper planners) to stay on top of doctors’ appointments and medication management.
- Consider your child’s diet. Your child’s doctor may suggest a ketogenic diet* for your child. This is a high-fat, low-carbohydrate diet that requires close monitoring by a doctor.
It is also important to talk to your child’s doctor about your child’s risk for sudden unexpected death in epilepsy (SUDEP). People who experience tonic-clonic seizures are at higher risk for SUDEP, and that risk increases further with seizure frequency.54,55 SUDEP is hard to talk about, but understanding the risks may help you reduce them.
*Be sure to consult with your child’s doctor before incorporating a ketogenic diet or other lifestyle changes into your child’s treatment plan. You may require input from various members of the healthcare team to address your child’s specific challenges.
Babies and Children
Review the signs and risks of seizures during childhood.