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The Cute Syndrome Foundation

Newly Diagnosed with SCN8A

You are not alone

Receiving an SCN8A diagnosis for yourself or a loved one can feel overwhelming, but you are not alone. The Cute Syndrome Foundation is here to help patients and caregivers find support, trusted information, and connection, while researchers and clinicians around the world continue working toward better treatments and outcomes for those with SCN8A-related disorders.

 

As you learn more about SCN8A, it is important to remember that SCN8A-related disorders affect each person differently. Over time, you and your medical team will develop a care plan that is right for your individual needs.

What Causes SCN8A-Related Disorders?

SCN8A-related disorders are caused by pathogenic or likely pathogenic variants in the SCN8A gene. A diagnosis is confirmed through genetic testing.

 

SCN8A variants can occur in several ways:

  • De novo (new) variant: Most SCN8A variants are de novo, meaning the genetic change occurred for the first time in the affected individual and was not inherited from either parent.
  • Inherited variant: In some cases, an SCN8A variant is inherited from a parent who has mild symptoms, no symptoms, or has never been diagnosed.
  • Parental mosaicism: Rarely, a parent has the SCN8A variant in only some of their cells (called mosaicism). Because the variant may not be present in blood cells, a standard blood test may not detect it, even though it can still be passed on to a child.

 

Genetic counseling can help families understand genetic test results, inheritance patterns, recurrence risk, and family planning options.

Building Your Care Team

SCN8A can affect many parts of the body and development. Those affected by SCN8A may work with a team of specialists to help support their needs.

 

Your care team may include:

  • Neurologist or epileptologist
  • Geneticist or genetic counselor
  • Developmental pediatrician
  • Physical, occupational, speech, or behavioral therapists
  • Gastroenterologist
  • Pulmonologist
  • Orthopedist
  • Eye and vision specialists
  • Mental health professionals
  • Palliative care or complex care teams when needed

Finding SCN8A Specialists & Epilepsy Care

If you need help identifying a provider near you, you are welcome to email us at supportgroup@thecutesyndrome.com.

Because SCN8A-related disorders are rare, many families choose to seek care from providers with experience in genetic epilepsies and neurodevelopmental disorders.

 

There are currently two dedicated pediatric multidisciplinary SCN8A clinics in the United States:

  • SCN8A – Children’s National Hospital (Washington, D.C.) led by Dr. John Schreiber
  • SCN8A and SCN2A – Children’s Hospital Colorado (Aurora, CO) led by Dr. Megan Abbott (Call 720-777-6144 or email SCN2A-8A@childrenscolorado.org)

 

These clinics bring together multiple specialists to help evaluate and coordinate the medical needs of children with SCN8A.

 

Patients with seizures may benefit from care at an Epilepsy Center. Level 4 centers provide the highest level of epilepsy care, including access to epilepsy specialists, advanced testing, dietary therapies, and epilepsy surgery evaluation. Some Epilepsy Centers serve pediatric patients, while others specialize in adults.

Treatment & Care

There is currently no cure for SCN8A-related disorders, but treatment and supportive care can help improve safety, comfort, development, and quality of life.

Seizure Management

Treatment may include:

  • Anti-seizure medications
  • Rescue medications
  • Ketogenic or modified diets, supervised by a neurologist and ketogenic dietician
  • Vagus nerve stimulation (VNS)
  • Epilepsy surgery evaluation in some cases
  • Clinical trials when appropriate

Treatment decisions should always be made with your medical team.

Therapies & Supportive Care

Many individuals benefit from:

  • Physical therapy
  • Occupational therapy
  • Speech therapy
  • Feeding therapy
  • Behavioral therapy
  • Vision therapy

Early support and therapies can help with communication, movement, learning, and daily living skills.

Support & Community

Many SCN8A patients and families express feelings of isolation and uncertainty after a diagnosis. The Cute Syndrome Foundation is a welcoming community built by SCN8A families, for SCN8A families. We understand the challenges that can come with this journey and are here to help you feel connected, supported, and empowered.

 

We offer:

 

We hope you’ll join us, find connection and support, and become part of our SCN8A community.

Resources for Families & Providers

SCN8A is rare; some healthcare providers may not be familiar with the condition. These resources can help families and medical teams learn more.

What is SCN8A?

Start here for more information about phenotypes, common symptoms, and more.

Learn more

Disclaimer

This page is intended for informational purposes only and should not replace medical advice from your healthcare providers. Treatment decisions should always be made in consultation with qualified medical professionals familiar with your individual situation.