My son was diagnosed with SCN1A mutation-related epilepsy just a few days before he turned 1. In my quest to learn about his prognosis, navigate his treatment, and generally find connections, I found a lot of personal blogs from parents with kids in similar situations, but nothing that I was looking for: a love of science. Not religious. Tips for toddlers on keto. Occasional irreverence and swearing. So I figured I'd be the change I wanted to see on the internet.

​

If we are lucky and my son grows up to be a totally typical kid, I don't want him to feel ashamed or embarrassed about what his mother put on the internet, so I don't want to make this about him in the sense that I'm not going to load this up with photos and give you the details of his potty training. That I'll do at his wedding reception.  Instead, I want to talk about the logistics of parenting a kid with his condition - getting to the point of diagnosis, dealing with the emotional fallout, responding to a wide range of seizure types and severities, managing ever-evolving treatment plans for an ever-evolving condition, investigating a growing range of devices for seizure alerting, keeping a highly opinionated 1 year old who hasn't yet developed the cognitive capacity for reason on a strict therapeutic ketogenic diet, and going about our lives managing all these logistics. Maybe hearing about our experiences will be useful to someone else.

​

I've also found that the SCN1A epilepsies manifest so differently for every person that these sorts of personal accounts of syndrome detection, diagnosis, and progression are useful to try to pattern-match to how my kid's phenotype may develop, even if it's just to make myself feel like I have some kind of understand and control of the situation. So I'm adding to the pile of anecdata in the SCN1A/Dravet Syndrome community.