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.


The Dirty Word

>> Sunday, April 14, 2013

I have been reading posts and blogs and research papers and...and...and....

I realize almost all of us affected by epilepsy keep using the same statement:

Epilepsy has no cure.

But why? Why do we keep telling ourselves it will NEVER be cured. Why can't it?

We have all heard:

Help find a cure for....

Multiple Sclerosis
Crohn's Disease
Ewing's Sarcoma

But we rarely hear, or even acknowledge there could be, a cure for epilepsy (of which some of the above diagnosis have as a symptom)? Are we that hopeless?

Bug is on the road to a cure...medicine needs to catch up with him. We KNOW what is causing his epilepsy and we KNOW that others have been treated and been almost cured. ALMOST. So close and yet so far... especially if we keep saying there is no cure. There could be...and we just aren't seeing it.


Routinely Inconsistent

>> Friday, April 12, 2013

Sometimes, after Bug seizes, and before he comes completely around, I have to touch all of his fingers, and all of his toes. Like a new Mother does with her infant. I have to reassure myself that all things are in order, and that he is OK. I watch him breathe. I stare into his eyes, usually with no recognition on his part and I think: It will always be this way.

He will always seize. He will never say: Mom, I love you. He will struggle to walk straight lines. And he won't know any different.

The tough part: We do.

We know the boy he was. Every so often, when we see glimpses of 3 year old Bug, we get excited. We think he is coming back. Then, the other shoe drops and we lose him all over again. Losing him once was horrific enough but to lose him time after time after time. It's some sort of cruel trick. In fact it is the worst kind: false hope.

Yesterday, we found out that his EEG hasn't changed since December. That is a very good thing because we removed one of his AED's. Bye Bye forever Dilantin! And we lowered the Lamictal. And while he isn't seizing more, he isn't seizing less either.

I hate that our entire lives are epilepsy. I hate that I live, eat and breathe waiting for the next seizure but we have come to accept it. His little sister isn't even 18 months old and she knows when he is seizing. She runs to him and pats him, she says: Buddy Ok? Over and over.

But I love that he doesn't slow down. That he is smiling less than 10 minutes after a seizure. I love that he is playing and vying for my attention. Mostly, I love that he is mine and he is still here.


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.

Diamond Potential Awareness Award

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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