Sunday, December 23, 2012

Epilepsy 2

Hypochondroplasia - epilepsy 1 - is the post on my blog which gets the most hits every month hands down. Which tells me 2 things that I already know...

1. It is extremely under-researched, under-published, not even geneticist who deal with skeletal dysplasia patients seem to know a lot of the time based on parental reports.

2. It could be more common than the 8-10% which has been quoted previously. This number was not based on any research, just observations by medical professionals who see kids with HCH.


When we met with the 3 lovely WI/MN families in October whose children have HCH, Fi was the only one who didn't have seizures as an infant. They all had the common mutation...

So if you are reading this and you have questions or comments about this, feel free to e-mail at tiny.hypo at gmail. com

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