Top resources for finding accurate medical information on Dravet syndrome

Resources written for the general public

• Genetic and Rare Diseases Information Center: Dravet syndrome
• National Institute of Neurological Disorders and Stroke: Dravet Syndrome
• National Organization for Rare Disorders (NORD) Rare Disease Database: Dravet Syndrome

Science-heavy resources targeted at clinicians:

• National Library of Medicine GeneReviews: SCN1A Seizure Disorders
• OMIM Online Catalog of Human Genes and Genetic Disorders: Dravet Syndrome

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Should I get a second opinion for Dravet syndrome diagnosis?

Rare diseases require specialized expertise. Consider seeking a second opinion from a physician who focuses specifically on your child's condition, such as a neurologist or geneticist. A fresh perspective can confirm the diagnosis, reveal additional treatment options, or simply provide reassurance about your care plan.

For many rare diseases, it can be hard to find a specialist with relevant experience. You can try asking providers you have seen, referring to community resources (see Section 5 below), or consulting a genetic counselor.

What does a genetic counselor do when my family has received a Dravet syndrome diagnosis?

Certified Genetic Counselors have completed a program of study focused on understanding and providing information about genetic disorders. A genetic counselor can help you understand the genetic aspects of your child's diagnosis, what it means for your family, and whether testing is recommended for siblings or other relatives. 

Genetic counseling can take place in person or in a telemedicine visit. The National Society of Genetic Counselors offers a tool for finding a genetic counselor.

Should other family members undergo genetic testing for Dravet syndrome?

Dravet syndrome is primarily caused by new genetic mutations (also called “de novo”) in SCN1A which happen randomly and are not inherited from parents. In more rare cases, a genetic mutation can be passed down from a parent who may have mild symptoms or carry the mutation in only some of their body’s cells. Additionally, mutations in other genes have been reported to cause symptoms similar to Dravet syndrome. 

Speaking with a genetic counselor about your child’s diagnosis can help determine if testing is recommended for parents, siblings, or other family members. Your genetic counselor can explain your family's specific situation, who should consider testing, and the best timing for those tests.

What symptoms should we monitor for Dravet syndrome? 

Families may be asked to monitor for several types of seizures, including prolonged seizures (lasting more than 5 minutes), which require immediate medical attention. Be aware that fevers and hot temperatures can trigger seizures in children with Dravet syndrome, so managing illness and avoiding overheating is important. 

Watch for changes in your child's development, behavior, sleep patterns, and movement such as balance problems or changes in how they walk. Some children may experience increased falls or accidents due to coordination difficulties. It's also important to monitor eating and growth, as some children have feeding challenges. 

Keep track of seizure frequency, types, and triggers, and report any new or worsening symptoms to your child's care team. To help you feel prepared, your care team can teach you how to give emergency seizure medications at home if needed. They'll also work with you to create an emergency action plan and may suggest that caregivers take a CPR course for added confidence and safety.

What is the expected progression of Dravet syndrome?

Dravet syndrome affects each child differently. Most children have their first seizures in infancy, but the types of seizures and their severity vary from person to person. As children grow, many experience developmental delays that continue into adulthood. While some individuals gain more independence than others, many will need ongoing support and care throughout their lives. 

What treatments or therapies are available for Dravet syndrome? 

Treatment for Dravet syndrome focuses on reducing seizures and improving quality of life. The main treatment is anti-seizure medication, and there are many options available. Your child's doctor will help you understand which medications are best for your child, this is especially important because some seizure medications can actually worsen seizures in Dravet syndrome and need to be avoided.

In addition to medication, some children benefit from the ketogenic diet, a special high-fat, low-carbohydrate diet that can help control seizures. Physical therapy, occupational therapy, and speech therapy also play important roles in supporting your child's movement, daily skills, and communication. Your child's care team will work closely with you to create a treatment plan tailored to your child's individual needs.

There may also be clinical trials testing new or improved treatments for Dravet syndrome (see below). Clinical trials provide experimental treatments at no cost, though they have specific eligibility requirements. Your care team can help you understand whether your child qualifies for available treatments. 

Who else should be on our care team?

Children with Dravet syndrome may benefit from a team of specialists working together. In addition to your child’s neurologist, this team may include a developmental pediatrician, physical therapist, occupational therapist, speech-language pathologist. Depending on your child’s needs, you may also work with behavioral psychologists, orthopedists, cardiologists, or dieticians. 

Ask your doctor which specialists should be part of your child's care. Since Dravet syndrome is a genetic condition, a geneticist can be especially helpful in coordinating care and keeping you informed. 

Finding clinical trial opportunities & supporting research

When you participate in research, you help your child and other families in the future. Medical research studies can be very different from each other. Some test new treatments, while others are "natural history studies" that just collect information about a disease’s impact over time. 

Clinical trials are research studies that help doctors find new treatments. Some trials test new medicines or therapies that aren't available yet. Even if you may choose not to participate, it can be good to know what options exist for your child's condition. Your child's doctor or disease organization can help you find trials that might be a good fit. The U.S. government also maintains a registry at clinicaltrials.gov

Natural history studies are designed to help researchers learn more about the condition. This information is important for creating future treatments. Traditional natural history studies can involve additional medical appointments over the course of several years.

Patient registries collect health information from people with specific diseases to help research move faster and connect families with clinical trials. Registries also show researchers and drug companies that families are engaged and want to help develop new treatments, which can bring more funding and research attention to a disease. Some diseases have more than one registry you can join. Patient Advocacy Groups typically establish and maintain patient registries for specific rare diseases. (See Section 5 below to learn more).

Organizing and maintaining your child’s medical records

Rare disease patients see many different doctors, often across different medical and technological systems that may not talk to each other. Unfortunately, that means the burden often falls on caregivers to track care holistically, identify “gaps,” and make sure nothing gets missed. Keeping your records as organized and centralized as you can from early on is likely to improve your ability to manage your child’s care down the road.

You can start by creating a one-page sheet with your child's diagnosis, current medications, allergies, and emergency contacts. Bring this sheet to every appointment. It can really help in emergencies or when you see a new doctor.

Many caregivers establish one (or several) records binder(s) in which they keep track of appointments, medication updates, symptoms, and other ongoing medically relevant information.

We also encourage caregivers to consider Citizen Health’s free tools for centralizing, managing, accessing, and extracting key information from health records. Our system will collect all your health records, across doctors and health systems, making them available on our secure online platform that can provide answers in real time based on questions you ask (like “What medications has my child been prescribed in the past year?” or “When did we last see an orthopedist?”) 

As a company built by rare disease caregivers, we aim to overcome the need for physical records binders. But ultimately the important question is what works for you and your family.

Every state has an early intervention program, and you can ask for an evaluation even if your child doesn't have a formal diagnosis yet. In some states, early intervention programs are called “birth to three”, “early steps”, or “first steps”. 

It’s never too early to search for early intervention services in your state. Learn more from ECTA, the Early Childhood Technical Assistance Center.

3 & up: School services for children with Dravet syndrome

IEPs and 504 plans

When your child turns 3, they move from early intervention to school-based services. An Individualized Education Program (IEP) is a legal document that describes the special instruction, therapies, and support your child needs to learn at school. 

A 504 plan provides accommodations for students who don't need special instruction but need support because of a disability. Understanding your rights and these plans helps make sure your child gets the right services throughout their school years. 

Communicating with your school

Building a good relationship with your child's school team is important. You know your child better than anyone, and that knowledge is incredibly valuable. Come to meetings prepared with information about your child's needs, share your concerns and hopes openly, and never hesitate to ask questions if something isn't clear. 

You are an equal and essential member of this team. Other members of your rare disease community can also be valuable resources for navigating your child’s school experience. 

Assistive devices and equipment for Dravet syndrome

Depending on your child's needs, assistive technology and adaptive equipment can help with independence, communication, and quality of life. This might include seizure monitoring devices, baby monitors, helmets (to prevent injury from falls), cooling vests (to manage triggers), mobility devices (walkers, wheelchairs), communication devices (Augmentative and Alternative Communication or AAC), or adaptive tools. Your therapists can recommend the right devices, and many are covered by insurance or available through school programs.

Some devices and equipment can be expensive but can very often be covered by insurance. If coverage is denied, be sure to talk to your doctors about writing an appeal letter or a Letter of Medical Necessity. These documents can be critical for getting insurance coverage for devices and equipment. 

Respite care

Caring for a child with complex medical needs is hard work, and taking breaks is important for your health and your family's wellbeing. Respite care provides temporary relief, giving you time to rest, handle other responsibilities, or just recharge. Options range from a few hours with a trained caregiver to overnight or weekend programs. 

Respite isn't a luxury. It's a necessary part of taking care of your family long-term. The non-profit Access to Respite Care and Help (ARCH) provides guidance on how to find a respite care provider.

Building your support systems as a Dravet syndrome caregiver

Caring for a child with Dravet syndrome is challenging, and you don't have to do it alone. Building a network of support, including family, friends, medical providers, therapists, other parents, and community resources, provides help during difficult times and people to celebrate progress with.

When asking for help, being specific makes it easier for others to support you. People often want to help but aren't sure what you need. Whether it's preparing meals, helping with childcare, running errands, or simply listening, accepting support benefits both you and those who care about you.

Don’t forget about support for other family members! If your child has siblings check out the Sibling Support Project.

A program called Katie Beckett or TEFRA waivers allows children with disabilities to qualify for Medicaid based on their own income rather than family income. Additionally, children with significant functional limitations may qualify for Supplemental Security Income (SSI), which provides monthly payments and often automatically qualifies them for Medicaid. These programs can provide crucial coverage for therapies, equipment, and services private insurance won't cover. 

Learn more about Medicaid in your state through this interactive map from NORD.

Understanding your insurance coverage

What’s covered

• Your insurance policy determines what services, therapies, equipment, and medications are covered for your child. Start by reading your plan documents to understand your benefits, deductibles, co-pays, and out-of-pocket maximums. Call your insurance company's customer service or case management department as many insurers assign case managers to children with complex medical needs who can help you understand your coverage. 
• Don't assume something isn't covered until you've asked. Many families are surprised to learn what benefits are available when properly documented. 
• Keep notes of every call you make, including the date, time, person you spoke with, and what they said. This documentation can be very helpful later.
• Most children’s hospitals also have a financial counselor or patient navigator who may be able to help with insurance or financial coverage issues

Therapy & rehabilitation

• When considering insurance coverage for therapies and rehabilitation services, make sure to see if your plan has a cap for the number of therapy visits per year. Many children with complex needs will exceed that cap and appeals or additional insurance coverage plans may be needed. 

Medical equipment

• If your child needs durable medical equipment such as a wheelchair, walker, orthotics, or at home equipment, getting insurance coverage for that equipment will likely require prior authorization or a letter of medical necessity.

Targeted treatments

• Targeted treatments (also called precision medicines) are designed to address the specific genetic change causing your child's disease. Unlike treatments that only manage symptoms, these therapies aim to address the underlying genetic problem itself.
• Even after targeted treatments receive FDA approval, insurance coverage can sometimes be difficult because these medications are often very expensive. Your child's medical team and the drug manufacturer may offer support programs to help with insurance approvals, appeals, and financial assistance. 

Denials & appeals

• Insurance companies often deny coverage for therapies, equipment, or medications at first but denials can often be overturned with the right documentation. If coverage is denied, you have the right to appeal, and many families win their appeals. 
• An effective appeal letter includes: your child's diagnosis and how it affects their daily life, specific medical reasons from doctors explaining why the service or item is necessary, references to your insurance policy language that supports coverage, research or medical guidelines supporting the treatment, and a clear request for reconsideration. Many patient organizations and hospital financial counselors can help you write strong appeals. You can even appeal multiple times, and many families win on their second or third attempt. You're advocating for your child, and persistence often pays off.

Non-discrimination Protections

The Genetic Information Nondiscrimination Act (GINA) is a federal law that protects you from genetic discrimination in health insurance and employment. Health insurance companies cannot use genetic information to deny coverage, raise your premiums, or determine eligibility. However, GINA does not cover life insurance, disability insurance, or long-term care insurance. Employers cannot use genetic information when making hiring, firing, or promotion decisions. Understanding these protections can give you confidence in pursuing genetic testing and sharing results with your child's healthcare providers without fear.

Learn more about these protections from the American Society of Human Genetics.

Finding and connecting with families who have walked in your rare disease shoes can be life-changing. Other parents navigating the same diagnosis can offer practical advice, emotional support and hope based on their shared experience. They can understand the daily challenges and the victories, big and small, in ways that others can’t. Disease-specific communities often become a lifeline and a source of hope that remind you that you are not alone. 

Connecting with other families

Your genetic counselor or healthcare provider may be able to connect you with other families affected by Dravet syndrome in your area. Don't hesitate to ask if they know families who might be open to a phone call or meeting up. Most providers are happy to help make these connections.

If finding local Dravet syndrome families is difficult, consider connecting with broader rare disease communities. While individual rare diseases may be uncommon, the rare disease community as a whole is large and supportive. Many states and communities have organizations that bring together families affected by all types of rare diseases, offering valuable support and shared experiences.

Patient advocacy groups (PAGs) specific to Dravet syndrome

Patient advocacy groups exist for many rare diseases and serve as a central hub for connections, reliable information, research updates and advocacy efforts. These organizations work to advance research, improve care standards, raise awareness, and support families. They often host conferences, maintain family directories or registries, fund research, provide educational resources, and fight for policies that benefit the community. 

Connecting with your disease's advocacy organization gives you access to experts, researchers, and a network of families while contributing to the larger mission of finding treatments and cures.

The Dravet Syndrome Foundation is a patient advocacy organization dedicated to supporting research for Dravet syndrome, increasing awareness, and providing support for individuals and families. 

Disease-specific conferences and events

Many patient advocacy groups will help spread awareness through conferences and events. These can include in person events or online events and are great opportunities to connect with others and to stay on the cutting edge of new research opportunities. 

​​Attending a conference focused on your child's condition can be transformative. These gatherings bring together families, researchers, doctors, and advocates in one place. You'll hear about the latest research, learn from medical experts, meet families at different stages of the journey, and let your child connect with others like them. 

Many families describe their first conference as the moment they felt less alone. While attending may require travel and expense, many organizations offer scholarships or financial assistance to help families participate. If you can go, it's often worth it.