23 and Bug

>> Wednesday, April 17, 2013

A little while ago, while being neck deep in frustration, I came upon a group of people on Facebook and reached out to them. While, I openly admit that they are well above my comprehension level on most things, I can hold my own. Especially when talking about seizures.

One of the things I found was a relatively cheap genetic test. Yes, Bug has had a few tests already, but they were specific to epilepsy and basic known genetic conditions. And then...they threw their hands up. The child has markers for Trisomy and they threw their hands up? I guess not everyone needs answers.

We are not in that category.

So, I sent away for the test kit and tried for over a week to get the amount of saliva needed. Bug used to spit. For no reason...would just spit. Yes, it's a gross as it sounds. But now...he doesn't spit and doesn't understand what: 'Hey, Bug...spit' means. I had to wait for a drooling spell. Every time he would have one, someone would wipe his mouth or give him water or something to make him swallow. Until I got my hands on him first thing this morning.

Before his meds, I spent almost an hour collecting the saliva. He was NOT happy and had one seizure. I was thrilled as hell. We collected it, put it in the tube, shoved it back in the box and shipped it back off the the 23andme testing lab.

This test is 99 bucks. Yep. I know. It will tell us a few things:

Ancestry - https://www.23andme.com/ancestry/
Composition, relatives, maternal & paternal lineages and neanderthal percentage. They have over 200,000 genotyped members, which is the largest genealogical DNA database in the world.

Carrier Status - https://www.23andme.com/health/all/
This is the big one for us. It will tell his risk for all sorts of genetic conditions. Including Phenylketonuria, which he has NEVER been tested for and we think he may have. Including that there are 50 they test for. Also 120 Disease Risk conditions, 21 drug responses, and 57 traits.

We are interested to see if we learn anything from a 99 dollar saliva test that we haven't been told in 6 years of extensive, pointless and invasive testing.

Now, we wait (how many time have *I* said that) 6 - 8 weeks for results. Oh goodie.


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What a Seizure looks like (Graphic Content Included)


Seizure Tracker.com

Seizure Tracker.com
Free online tools to provide people living with epilepsy and their doctors with a better understanding of the relationship between seizure activity and anti-epileptic medication dosages. Reports generated on SeizureTracker.com include detail graphing capabilities and are easily sharable with caregivers.

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Diamond Potential Awareness Award
Thank you Holly at Diamond Potential for this award. Awareness leads to understanding and acceptance. And let's face it, we all need to feel accepted for who we are. The battle has just begun!

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