New, I guess missed mutation..?

Did I mention? After going through loads of Malia’s medical records from previous years, I discovered Malia’s genetic testing results. It’s the one that revealed her DEPDC5 gene mutation, and under it, I see another mutation that’s never been disclosed to us.

It’s clear as can be on the test.

How or why did our previous Neurologist for 6 years miss this? Especially with all the related issues that came along with this diagnosis.

Researching on my own and communicating with the doctors to learn more on how to move forward.

RIGHT NOW the neurologists have orders in for another extended EEG- mostly due to this new type of seizure Malia is having every few days for upwards of 30 mins.

and a referral out to the headache department to rule out any other possible reasons why.

This has come to shock for us and are feeling very overwhelmed again. I will give more information as things come up. Right now, we’re just trying to learn what all of this means.