The pain of learning our children have a devastating disorder is only made worse by how we must often fight to see our children get the best possible care.

Rare epilepsy like SCN8A, only isolated a decade ago, means major SCIENTIFIC UNCERTAINTY remains about  how the genetic mutation functions to trigger different symptoms,  what the progression of the disease and prognosis is for our children – and MOST importantly, how to best treat either the often evolving seizures and/or the many comorbidities.

But why is this such an ongoing struggle? Partly because of the substantial scientific uncertainties – but also because of the absence of evidentiary-based consensus treatment guidelines.

In 2020, we gathered an esteemed group of over twenty pediatric neurologists from across North America to form the SCN8A Clinicians Network. THe clinicians immediately prioritized collaborating on developing the first consensus standard of care for SCN8A. 

A workgroup has been formed to begin the first step of the process of developing consensus treatment guidelines: completing a thorough and structured review of the published literature. The next steps will include formalizing a core team to include leading clinicians across the globe, launching the process of exchanging their own experience, learning from parents and our Registry – and developing sequential elements of treatment guidelines for evaluation by a larger evaluation panel of experts to finally agree on Consensus Guidelines for the Treatment of SCN8A.

It’s a rigorous and time-consuming process – and even when complete it will still have gaps – but it will represent the first major step by the community of experts – leading SCN8A clinicians, prominent researchers, and engaged families – in codifying the best available evidence on treatment protocols for our children.

This will represent a major advancement in the quality of care for our children – and provide recognized and institutionalized guidelines to improve treatment. This effort has the potential to improve care whether your child is seen in a major university-based pediatric epilepsy center or by a neurologist or even pediatrician in a remote setting anywhere around the globe. We believe it will provide a foundation for more structured and continuous rapid learning about what works or does not—for specific and well-defined subgroups of our children with SCN8A.

Our community is blessed to have a leadership team uniquely positioned to make this undertaking a success. 

The SCN8A Clinician Network is Co-led by Dr. John Schreiber, a leading SCN8A clinician and Director of the Epilepsy Genetics Program at Children’s National in D.C.

Our own Dr. Michael Hammer, founder, and PI of our dedicated SCN8A registry and DIrector of the University of Arizona Genetics Core.

The SCN8A Treatment Guideline Project will be Co-chaired by Dr. Scott Perry, a prominent SCN8A clinician and Neurosciences Medical Director at Cook Children’s in Fort Worth Texas

Gabi Conecker, President and co-founder of the International SCN8A Alliance.

In addition, the team will have the expert procedural direction and support from Dr. Elaine Wirrell, Director of Pediatric Epilepsy at the Mayo Clinic in Minnesota with expertise in applying the modified Delphi process for the development of consensus treatment guidelines.

For a detailed discussion of the process and outcome of efforts to develop a standard of care for the Dravet Syndrome, see this article

We will keep the community informed as the work progresses – and as opportunities arise for specific input and/or questions.