Top resources for finding accurate medical information on SCN8A-related disorders

Resources written for the general public

• SCN8A gene: MedlinePlus Genetics
• National Organization for Rare Disorders (NORD) Rare Disease Database: Developmental and epileptic encephalopathy, 13 - NORD

Science-heavy resources targeted at clinicians:

• SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders - GeneReviews®
• SCN8A - OMIM

Should I get a second opinion for an SCN8A-related disorder diagnosis?

Rare diseases require specialized expertise. Some families find it helpful to seek a second opinion from a neurologist or developmental pediatrician with experience in complex epilepsy or neurogenetic conditions. 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 an SCN8A-related disorder diagnosis?

Certified Genetic Counselors are healthcare professionals trained to help families understand genetic diagnoses and their implications. A genetic counselor can explain how SCN8A-related disorders occur, discuss inheritance patterns, and help determine whether genetic testing may be appropriate for parents, 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?

In many families, the SCN8A gene change is something that happens for the first time in the child. This is called a de novo (new) change, and it means the condition was not passed down from either parent. When this happens, the chance of another child in the family having the same condition is usually low.

Less commonly, an SCN8A gene change can be inherited from a parent. This is known as autosomal dominant inheritance, meaning only one changed copy of the gene is needed to cause the condition. In these situations, a parent may have mild symptoms or may not realize they have any symptoms at all. A genetic counselor can help talk through inheritance, testing options, and what this means for your family.

What symptoms should we monitor for an SCN8A-related disorder?

Children with SCN8A-related disorders can have a wide range of symptoms. Families are often asked to monitor seizure activity (including changes in frequency, type, triggers, or response to medications), development (such as communication, learning, and motor skills), and behavior or attention. Some children may also experience changes in muscle tone, coordination, sleep, feeding, or sensory sensitivities. Keeping track of changes over time, what seems to be improving, what stays the same, and what feels new, can help your care team adjust treatments and supports as needed.

What is the expected progression for an SCN8A-related disorder?

Some children have early-onset seizures and more significant developmental differences, while others may have milder symptoms that become clearer over time. For many families, the course is not linear and may include periods of stability along with times when new needs emerge. Your child’s neurologist can share what has been observed in children with similar genetic changes or symptoms, while also recognizing that it is not possible to predict an exact path for any individual child.

What treatments or therapies are available for an SCN8A-related disorder?

Treatment for SCN8A-related disorders is focused on managing symptoms and supporting your child’s development. This often includes anti-seizure medications, as well as therapies such as physical therapy, occupational therapy, speech or feeding therapy, and educational supports (see below). Because children can respond differently to medications, it may take time and careful adjustment to find the approach that works best for your child.

At this time, there is no FDA-approved gene therapy for SCN8A-related disorders. However, active research is underway. In addition to gene-based research, clinical trials are exploring medications designed to more precisely target sodium channel function, the process affected by changes in the SCN8A gene. While these treatments are not gene therapies, they represent an important step toward more personalized, disease-specific care.

Who else should be on our care team for an SCN8A-related disorder?

Many rare neurogenetic disorders affect multiple body systems. Children with SCN8A-related disorders may benefit from care beyond neurology, including developmental pediatrics, physical medicine and rehabilitation, gastroenterology (feeding or reflux concerns), orthopedics (tone or mobility differences), or speech and feeding specialists. Ask your doctor which specialists should be part of your child's care. Geneticists, doctors who specialize in genetic disorders, are often very good at managing care for patients with complex rare diseases.

For questions specific to your child’s situation, Citizen Health offers a free doctor’s appointment preparation tool that incorporates your child’s medical records and provides appointment preparation suggestions through an AI chat interface.

Finding clinical trial opportunities & supporting research into SCN8A-related disorders

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 for an SCN8A-related disorder

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 record 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 SCN8A-Related Disorders

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 SCN8A-related disorders

Depending on your child's needs, assistive technology and adaptive equipment can help with independence, communication, and quality of life. Children with SCN8A-related disorders may benefit from tools that help with communication, movement, positioning, learning, or sensory regulation. Examples include AAC (augmentative and alternative communication) devices for children who have limited speech, adaptive seating or positioning supports for comfort and posture, mobility equipment such as walkers or wheelchairs, and tools that help with daily routines or sensory needs. 

These supports are usually recommended by your child’s therapy team, such as speech-language pathologists, physical therapists, or occupational therapists, and many devices can be provided through early intervention services, school programs, or insurance. 

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 well-being. 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 an SCN8A-related disorder caregiver

Being a caregiver to a child with an SCN8A-related disorder is a heavy responsibility.  You can't do it alone, and you don’t have to. Building a network of support including family, friends, medical providers, therapists, other parents, and community resources, creates a safety net for hard days as well as people to celebrate victories with. 

When asking for help, it helps to be specific: people want to support you but often don't know how. Whether it's meals, watching your other children, or just someone to listen, letting others help is good for everyone.

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 for SCN8A-related disorders

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

• As research progresses and new therapies move into clinical trials, questions about access, eligibility, and insurance coverage will become increasingly important. Your child’s neurologist, genetic counselor, or patient advocacy organization can help you stay informed about emerging research and potential opportunities to participate in studies if and when they become available.

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 for SCN8A-related disorders

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. 

Local SCN8A-related disorder support groups

Your genetic counselor or other healthcare provider may be able to connect you with local families in your area. It is totally appropriate to ask your providers if they know of any local families who might be willing to connect with you for a phone call or even a play date

Some rare diseases are so exceptionally rare that it might not be possible to connect locally with another person with the same rare disease. But collectively, rare diseases are not that rare! Connecting with broader rare disease groups is another great option. Many states and communities have organizations that support all rare diseases. 

Patient advocacy groups (PAGs) for SCN8A-related disorders

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 SCN8A-related disorder advocacy organizations gives you access to experts, researchers, and a network of families while contributing to the larger mission of finding treatments and cures.

One example is The Cute Syndrome Foundation, which focuses on SCN8A and related conditions. The foundation offers family support, educational resources, and updates on research and clinical studies: Join our SCN8A Community - The Cute Syndrome Foundation: SCN8A Support, Awareness, and Research

If you are looking for additional rare disease communities or want to explore broader resources, these websites might also be helpful:

• https://www.simonssearchlight.org/
• https://globalgenes.org/rare-list/

There is no right or wrong way to engage. Some families want to connect right away, while others prefer to wait. These communities will be there whenever you’re ready. 

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.