fooburger

https://en.wikipedia.org/wiki/Medical_genetics_of_Jews

nothing related to Infantile Spasms there, even remotely.

Checked for what? Infantile Spasms has very few hereditary possibilities that aren't the result of some syndrome that would already have been diagnosed prior to onset of spasms. That said, for these idiopathic/cryptogenic cases, it makes sense to perform genetic testing, though there's little chance of screening prior to birth.

First off, SO glad your parents guided your treatment to freedom from hypsarrythmia. I also think it's fantastic that your adult seizures are controlled with medication. It's wonderful to see people BEAT epilepsy. Yeah, Vigabatrin has been known to cause visual field defects, but not (so far), in treatment of IS (there are a few theories I've seen in the literature, all available on scholar.google, as to why that might be). This was certainly not clear in 1995, as Vigabatrin had clearly caused vision problems in adults by then, and keto might easily have been the next best thing to try, especially for idiopathic cases. We considered ketogenic diet, and our little one (symptomatic) was only a couple of weeks away from trying it when the hyps went away on Vigabatrin. To me, it's vital that parents and medical providers treat IS as an 'emergency' medical condition, not simply as 'epilepsy', as in IS, the brainis in a constant state of chaos. For nearly every other epilepsy syndrome, that kind of chaos only happens during a seizure. Medical practitioners should be counting hours when dealing with infantile spasms, even if they normally count weeks for other epilepsies. And it does sound like your parents treated it as an emergency situation and pushed back on doctors who weren't assertively treating the condition. Again, congratulations, this is a story that will give hope to parents of children afflicted by IS.

In 1995, Vigabatrin (now a first line treatment option for IS) was not available in the US but was in Canada, Mexico, and the UK. Did you parents consider traveling abroad to treat you with it?

The history of the keto diet in regards to epilepsy is long and complex. It was largely not considered for IS for a long time, and started gaining traction at/around the time of this example. Note that for IS in particular, keto diet is unusually simple to implement, as an infant is simply weaned from breast milk or standard formula onto a keto formula. One thing to keep in mind when reading the literature surrounding treatment of IS and keto in particular, is not to compare studies evaluating 'seizure reduction' with studies evaluating 'seizure elimination'. Those are two different yardsticks, and it's easy to confuse results when one says "seizure reduction in 90% of patients" and another says "seizure elimination in 40% of patients" or similar.