FamilieSCN2A. On July 14th and 15th, Ingo and I had the pleasure of speaking at the FamilieSCN2a Annual Family and Professional Conference, which was hosted at the DuPont Children’s Hospital in Wilmington, Delaware. This meeting brings together families of children and young adults with SCN2A-related disorders and medical professionals and scientists working in the field, with the purpose of sharing information, learning from one another, and moving the field forward. This post won’t be a comprehensive recap of all that was discussed, since we heard from a broad range of professionals including therapists, electrophysiologists, epidemiologists, neurologists, and geneticists and it would be nearly impossible to sufficiently summarize everything. But I did want to share some of my impressions and thoughts. Here my five things I learned at the FamilieSCN2a Conference.
1-Gain-of-Function vs. Loss-of-Function
There was a great deal of interest – both from the professional and family sides – about the functional consequences of SCN2A variants. How does the change in the SCN2A gene affect how the Nav1.2 channel functions? It appears that broadly we can sort many/most variants into two bins – Gain-of-Function vs. Loss-of-Function. Al George presented promising data regarding high throughput screening of SCN2A variants. But as we were reminded by Ted Cummins, not all Gain-of-Function variants are created equal and can cause hyperexcitability in different ways. The eventual goal is that we can use this information to help guide treatment, but at this point we need to be cautious in how we incorporate this data into a treatment plan.
2-The importance of Simons VIP
Several researchers presented data that was collected from the SCN2A database in Simons VIP Connect. This database links families with a diagnosis of SCN2A with researchers in the field. If you are a family who has a child with a diagnosis of an SCN2A-related disorder, I highly encourage you to sign up with Simons VIP Connect. It is an easy way to get involved in research and you will have the opportunity to contribute valuable information to help advance the field of SCN2A research.
3-Don’t underestimate the resourcefulness of a parent
I am continually floored by the persistence of parents within the genetic epilepsy community. I was the first speaker on the program, presenting an overview of how laboratories interpret variants in SCN2A for clinical reports. During my talk I was pleasantly surprised to see a few interpreters in the audience, who were there to assist non-English speaking parents who traveled great distances to be there on behalf of their children. Most families came prepared with well-organized folders and binders of medical information. Although most of the parents I met were not scientists or physicians themselves, they were eager and avid learners with an impressive ability to learn quickly about neurology and genetics. They can and will teach themselves about premature termination codons and nonsense mediated decay. If they aren’t provided with a copy of their child’s genetic test result, they will sneak a picture on their cell phone. My take away from these conversations is that we need to make it easier for parents to access and learn about their child’s genetic information. Here is my biased endorsement of the usefulness of genetic counselors in this role, particularly those who have experience in neurogenetics, as our members of the EpiGC community do. Genetic counselors are trained in communicating complex genetic and medical information. We also typically have more time to spend with families than many busy physicians do.
4-The SCN2A story continues to be written.
Pathogenic variants in SCN2A were first discovered back in 2004 in families with a rare familial form of self-limiting epilepsy in infancy and typical development. It wasn’t until several years later that researchers somewhat surprisingly discovered de novo variants in individuals with more severe neurodevelopmental disorders, which now appears to be more common than the more benign familial seizures. We heard from several speakers that the SCN2A story continues to evolve, with some patients presenting with an earlier onset epileptic encephalopathy phenotype with seizures before 1 year of age, and other patients presenting with developmental delay and autism. As many families probably would attest to, the story is likely more complicated, with many children not falling clearly into either category. This is all to say that the SCN2A story will continue to be written. What we know about SCN2A will evolve and change, and we cannot do this without the help of the families.
5-Change of scenery equals change of perspective.
One thing I love the most about such meetings is the change of scenery, bringing everyone together in a new place and a new context. Typically, when medical professionals and families meet, it is in the context of a clinic visit. Meeting in an entirely different context – a conference organized by families – changes the scenery and changes the perspective. It brings down walls or barriers that might exist in a doctor’s office or hospital exam room and it allows conversations that are more natural and open. It puts everyone on equal footing and allows us to talk as people, not as doctors and patients.
I would like to thank FamilieSCN2a, in particular Leah Schust and Michelle Lewis, for the opportunity to participate in this conference. I look forward to continuing to work with the SCN2A community!
Thanks for this Katie and thanks for your help at the conference.
Hello Katie Helbig,
My grandson has the SCN2A gene. I want to express my gratitude for your continued interest and research. The SCN2A Community is filled with
compassionate families trying to find answers to improve their wonderful children’s lives. Thank you, Katie Helbig for encouraging them to hope.