An AbiNormal Day

     Everybody has a nervous system and, as we know, that nervous system sends information to the body via signals from the brain. These signals get sent through what is called an "Action Potential". Every cell has a "resting potential" (level that it sits at rest) and a threshold of activity must be hit in order for the signal to continue through that synapse-or connection.
Imagine walking through an automatic door into a store. It is closed and sitting comfortably at it's "resting potential". In order to get through that door you need to first let it know you are there. The door needs input to know that you are there and want to get through.
    That is exactly how the synapse, or connection, in the brain works. The automatic door represents to the cell membrane. On the cell membrane sit two "automatic doors" called gated channels - one it a sodium gated channel, the other a potassium gated channel. The membrane and these channels sit at a the resting potential until the input (Action Potential) reaches it. Once the threshold is met (enough stimulus/input 'knocks on the door') the 1st door opens...the sodium door and sodium rushes into the axon. Once there is enough sodium, that triggers the potassium doors to open and sodium doors to  close. Once the action potential passes through the doors and moves to the next synapse the potassium doors then begin to close.
     Abigail's gene condition mutates the KCNQ2 gene (that doesn't mean anything to me either) but this mutation affects the speed of the potassium door closing. From what I read and understand, this mutation causes the potassium doors to take up to 3x longer to close than normal which effects the time it takes for the cell returning back to it's resting potential-in turn causing an excess amount of electrical activity at all tines in the brain-thus, seizures.

    This mutation apparently has several different strings ranging from mild to severe, the more mild disorder is called "Benign Familial Neonatal Epilepsy (BFNE) and the more severe is called Neonatal Epileptic Encephalopathy (NEE) - the latter is associated with "profound intellectual impairment".  Her neurologist believes Abi to be on the more severe side and will most likely need special education. My gut and my heart tell me that is not the case. She is obviously a little behind now, and she may have slight learning disabilities but I strongly feel her disabilities won't be "profound". We have started early intervention and physical therapy to combat as much as possible, though. There have been times I have thought "maybe she is a little behind" - mostly because she isn't focusing or following anything and not smiling at faces yet...but then someone mentioned possible vision problems and that set a bug in my brain so I looked father into it and a lot of the signs and symptoms of vision problems are prevalent in Abi's behavior, so we will pursuing a vision specialist and I'll talk more about that later when I know more. - But I have good strong feeling that vision is playing more a role in her lack of focus than learning disabilities.

    So now we know the cause of her seizures and that's AWESOME, but as of yet it has not changed anything about her treatment. She is currently taking 3 anti-seizure medications - one of which also acts as a sleep-aid (well it should, I kinda think she's gotten used to it and it's not as effective as it used to be). We give her her meds 2wice a day - once in the morning and once at night - I try to keep it as close to every 12 hours as possible. I am so grateful that Sheena (her babysitter) is so willing to give Abi her morning dose because I don't want to have to give it to her at 5 or 6 am when she wakes up and I don't want to have to wake her up either around 8 (after she has gone back to sleep). I can't tell you enough how perfect Sheena is for Abi and me. We used to have the medicine compounded into a solution so that we could just suck it up into a syringe and give it to her that way. When it was compounded it could be flavored to take some of the misery out of taking medicine. But because her body would chew through her doses so quickly and we had to keep increasing the dose it got to the point where we were giving her her body weight in syrup-y medicine (okay, that is an exaggeration, but it was still an obnoxious amount). So we switched to pills, it is much easier. I just put 2 of her pills into the syringe and crush them - pull up some milk or water (she prefers milk) to dissolve them then give them to her. If we can time medicine with nursing we can sometimes get her to take her medicine through a bottle nipple and that makes it 100x easier for everybody. The third pill is a disintegrating pill that you just lay on her tongue and it dissolves with her saliva or when she nurses. I try to give her this last pill about 30 minutes before I'm ready for her to go to bed, then nurse her, then off we go to sleepy town. She sleeps through the night just fine for the most part - if she's gonna fight sleep it's normally through the day. If she is really struggling one particular day then I have the okay to give her a clonazepam (pill that dissolves and helps induce sleep) in the morning to help make that day a little easier for everyone involved. I don't chose to do that unless she really NEEDS it, but I haven't had to give her a day dose of clonazepam for a long time with the exception of the one time at her babysitter's house a little bit ago.

   So on an AbiNormal day we give her medicine around 9pm - then clonazepam/nurse somewhere around 10:30 or 11pm. She will sleep until 5am - sometimes 6am - when we wake up and nurse again and she pretty much goes right back to sleep. (She has given me until 7 in the past! - she's so good to me). Then we get up around 7:45 (I need to be getting up at 7, but it's so hard to wake up again, and I don't want to be up at 5). So I'll pump at 7:45, then get Abi's things (milk/meds/blankets/etc) ready to take over to Sheena's - grab Abi then off we go. I work from 8-12, then eat lunch with Mr. Petersen (her dad, my husband) at the school, then head out to get Abi around 12:30/12:45 - then we go home. I miss her while I'm at work and worry about her having a good day for Sheena, but I enjoy getting out of the house for a few hours, I seem to be more productive when that happens.

Abi has been having a bunch of really good days lately! She's been sleeping more like a baby should, and fussing a little bit less. Still likes to give us her opinion throughout the day - but she has been able to find peace a little bit more often. She had colic and reflux really badly, but I think she is beginning to grow out of that...thank goodness! Now I think she is just on the verge of teething. I see little tooth buds on the top and bottom that look like they are very close to wanting to come in. And I know it's normal for babies to drool, and she has been drooling A LOT of a long time..but I think teething is just around the corner for us.

up next on our to-do list:
- get in with an ear-nose-throat (ENT) specialist - for her heavy, labored, raspy breathing
- get in with a vision specialist to check out her eyes.
- physical therapy starts May 10 - so excited!


This is AbiNormal