Friday, January 28, 2011

Just wanted to add...

*JUST* because there may be no
Once Upon A Time

that does not mean there can't be a
Happily Ever After....

Thursday, January 27, 2011

Once Upon a Time

I called University of Chicago's genetic lab department because I wanted to know why Lily's diagnosis was so plain. A deletion involving exon 1 on her CDKL5 gene. Most other CDKL5 families have a far more intricate diagnosis and I was jealous. OK probably wrong word choice, but I did want to know more than I thought I was being told. Lily's pediatrician (whom I called first) said he had no more information than I did and maybe try calling them. Knowing I would they gave me the number. I left a message and just a few hours later the director if clinical services and education called me! I was so impressed and stumbling for the proper words to use. "Yes ahem, I was only curious to know if you could perhaps be so kind...." yeah right, I said ok all these other families I know have these crazy diagnosis with letters and numbers and periods Lily doesn't, what's up with that?
She explains to me most children with a CDKL5 infliction have a mutation. She described to me that if each gene was like a book there are chapters and pages. When a child has a mutation it is like they are missing a chapter or pages and those can be pinpointed very specifically, but when a child has a deletion on that book it is missing an entire chapter and with Lily's deletion on exon 1 it kinda means there is no Once Upon a Time. Meaning the book never even starts. This made me sad. She was incredibly kind and informative, she was not being hurtful she was just simply explaining to me an almost impossible subject (genetics) in very plain terms. I was very grateful for her explanation. But I had to follow up with "is this why Lily seems to be more severe than a lot of the other kids" and she simply stated "yes".
That kinda sucked.

Wednesday, January 26, 2011

Seizures can go suck it

Yes that is my title and I mean it. Suck it seizures.
Last Tues we went gluten free with Lily, not for seizures sake but for overall health and hoping for a little more awareness/alertness (and possibly help with tummy troubles). It is going well, it just costs a few more dollars and she pretty much eats all the same things. But I have been noticing an increase in seizures and then they just went haywire. I am not correlating the seizures with the gluten free, I am just sharing our timeline in what is going on in Lily's world. Anyway they were really increasing, then we went up to Greer for the weekend and they started hitting her hard. Big ones, tonic clonics on top of the myoclonic clusters and atonic drops. I figured it was the elevation and just had her relax all weekend, like we all did. But then on the ride home they were every hour and then they continued at home. She does have a cold, but never a fever. I called neuro Monday and he upped her Sabril even more which she takes in addition to her other 2 meds (sigh) and now we wait until Feb 9th for her appointment with him. I admit she is doing better, but it is usually a temporary fix when this happens. Unfortunately there aren't a whole lot of choices. We could explore putting a VNS on her other side since her previous one kicked the bucket and ruined her right side or re-visit keto. I hated her on keto, but I hate seizures more so I'm feeling a bit torn as to what to do. I have been able to worry less about her and her overall health and it has been nice, but when her seizures get like this it makes me worry. Worry about her at bedtime mostly. We have a camera on her all night, but still.
And to add to the mommy worry, we are having struggles with Andi Jane. We all know she is a high energy child and it has always been a concern in the back of my mind that it is more than typical hyperness. Lately she has been coming home with bad notes and her report card was poor in behavior areas, frankly I am concerned. I emailed her teacher and she requested that we meet to discuss her further. We meet tomorrow afternoon. I will update with what we decide. I think she just needs to do things that are a little different than for the average child. She is far from average and may need to be taught a little different.
Gotta love kids and worrying about them. At least I have very little worries with Oli at the time being. He is going for his 2 year photo shoot with my amazing talented friend Liz and I just can't wait. I also can't bring myself to cutting his precious blond locks so I just know when he is 18 he will say "mom why didn't you cut my hair" and I will say "because I wasn't worried about it"
Oh he is my little love. They all are so special, he is just my baby and has yet to worry me, much, so don't judge.
Keep us in your prayers, Lily with her seizures and our meeting with Andi's teacher. I just love Andi Jane's spirit and style and I want to make school a pleasure and not so difficult, I mean at least not in freaking kindergarten!

Monday, January 24, 2011

Winner Winner Chicken Dinner!

Each month after finding out the Pepsi Refresh Challenge results these kids looked like this:

But guess what!!!!! SOMEONE didn't play fair and was disqualified from the Pepsi Refresh Challenge AND guess who moved up into the top 10 for the month of October? Yup! That is right! Us!
IFCR will now receive $50k to go straight towards CDKL5 research!
Thank you to all of you who voted! We knew we had to be winners and it turns out, we were!!!
So Yay! Roll those happy faces now...

Tuesday, January 18, 2011

Weekend Update with Me

No Lily hasn't gotten her glasses yet. I, my friends, probably look like what I can only assume what a chicken with it's head cut off looks like. I can't keep up and I would love to just give you a glimpse of how my weekend was only because everyone I know on a personal level basically just likes to tell me where in the dictionary I can find sympathy. I thought I would reach out further to you all for some "oh poor you".
So Friday was fun. Good wholesome family night at Peter Piper Pizza with dear friends for a birthday party. Go to bed at a decent time. Life is grand.
6:45am on Saturday my alarm was supposed to go off, but no my blackberry decided it was time to need a reset that I needed to confirm and nothing else can happen until I confirm that, so at 7:15am when I wake up I see sun and I know I am not supposed to see sun, I rip off the blankets, grab my phone, yell at it and it's stupid reset and run like a chicken to get all three kids dressed, fed and out the door by 7:40 am for Andi Jane's first basketball game. Where was their father? At his 6am bible study at church otherwise known as "fight club". I get everyone to the church (that is where they play, we're southern like that, we prefer all activities to be held within church with church folk)(I seriously hope people understand my sense of humor) at 7:50am just like I am supposed to. But I will admit, attitude not so cute. Then the game starts and my little girl is the only girl on her team (when I read the rooster I emailed the coach to make sure that he indeed knew Andi was a girl) and not only the only girl but a head taller than the rest. And not too bad if I don't say so myself. She had only had two practices prior and home girl can hustle! My inner tiger came out on that sideline and I quickly got out of my grumpy mood. It was so fun to watch! I'm pretty determined from now on like it or not Andi will play basketball just like her mama and she will go places I never did. I'm kidding. Sort of.
So after basketball, they kicked butt (they don't keep score, but I did ;), the kids and I headed over to watch my beautiful 13 year old niece in her gymnastics meet which kinda choked me up. She is a level 7 and pretty amazing if you ask me. She looked so beautiful and scored 1st over all! Oli was hilarious as he sat in his stroller just staring at all the girls running by in shiny suits. The kids were good considering we were there a couple hours. Where was their dad you ask? Working on a motorcycle he paid $500 for a shell of a 1972 Harley for. His intention is to custom build it and auction it off at the LilyAnna Blu Poker run for CDKL5 in August in South Dakota during Sturgis week. You all coming? Believe me more to come.
So then lunch with the family. Home. Then guess what I do. I shower and go to work at 4pm. Yup all day full time duty with kids then work all night.
And this wasn't just a typical Saturday night, it was play offs at a sports bar and freaking Green Bay was playing and holy crap if there isn't a huge following for Green Bay here in the sunny state of AZ. The place was packed! And we only had 3 servers. It was banana's! Here are a few comments I got that night "that's ok, you'll do better next time", "is there gonna be a shift change soon?", "you were great!", oh did I mention I slipped on a piece of ice? Like fell on the ground? Oh did I mention my period came two days early? And I didn't get cut until midnight?! I was in near tears several times. Did I mention my head cold I got days earlier that was still hanging around? No. Oh.
I came home to a sick husband and a very large 5 year old in my bed. And I was up at 7am to start my day. Get the kids ready for church alone. Where was their father you may ask? Throwing up everything except for his liver. He was sick as a dog but I was NOT missing church because Matt Hammitt from the band Santus Real was going to be speaking and singing and nothing was keeping me from church. I got to church albeit a bit grumpy, but man it was a good service! So good! Then lunch with the family and home to sick daddy whom I thought was going to die. And the scary thing was I had to work again that night 5pm - close. I took care of everything before I left but I felt awful to leave him with all three. But they managed and that night was not nearly as busy and I was the only girl working 7pm-midnight. I came home and crashed like I was sleeping beauty who just ate an apple or was that snow white?
And thank the Lord it was a holiday and no one woke up, or rather I didn't hear anyone until 8am. And then spent the day cleaning and putting together a piece of Ikea furniture that I had been waiting for Andrew to put together for a month now. It was a toy storage thingy for Oli's room and much needed so I finally just went to town on it with all the kids home. Something I now know was a poor choice. "Mom look! If you rub the Styrofoam together it looks like snow!" Oli found that playing on the slick boards was just like surfing and let's not forget how fun it is to open the bag of just enough screws and little wood pegs and make it rain with them. Oh and then turning the half way done shelf into a train. Yes, it was a fun day. Then I took all 3 to chic fila so we could get out of daddy's sick hair (or rather we could refrain from breathing his air) then we got home put Oli down for a nap and the girls and I went for a walk to Walgreens, which strangely seems a whole lot closer to home when I am driving. Then this family of 5 all crashed before 9pm like we ate a poisonous apple, again.
Today is Tuesday and I ran out of gas on the way to drop Oli off at my mom's (who watches him when I work), but God's grace protected me as I literally coasted from down the road and turned (power steering gone on a full size van) into my parents driveway. And of course my dad the eternal boy scout had a gallon of gas for me and my mom let me borrow her car to come to work. And that was how this weekend ended.
So when I say I know 2011 is gonna be a good year, I don't mean rainbows and glitter, it is how I take all the crap that is handed to us. Was I crabby parts of my weekend? Yes! Did I cry parts of my weekend? Yes! (hello my period started) But the awesome thing is I am fine. I can even joke about it and even when I called Andrew to tell him all the things he was doing wrong (which was irrational and not even true (hello my period??) and before he got sick, I'm not that mean) he didn't get on defense, he calmly spoke to me and we discussed it and resolved it. Prior to our life changing year I would have called and yelled and he would have yelled back and the thing would have snowballed and gotten out of hand. All for an unnecessary reason. So yes this year may suck even more than last year, look at all the tragedies already have taken place! But it is how we handle it now that will change and make the year seem better even if the circumstances suck.
I hope I didn't promise a short update. This post was about as long as my weekend was but that is ok, wanna know why? Because this is my blog. :) cheers.

And my humble quiet side wants to say thanks for allowing me to share my vulnerable heart with my last post. I had been working on the piece for a long time. I had wanted to post what happened but I just couldn't do it in a way that would be like airing out my dirty laundry. It doesn't take a rocket scientist to figure out what happened in our marriage, but those details really aren't for anyone, but us. But sharing how we hit rock bottom and it didn't have to break us was something I wanted to share. Marriage isn't happily ever after and there were times it would have been easier on both of us to just walk away, but our children deserve so much more and frankly so do we. So we are moving forward and making changes and living a life God had intended us to do since the beginning, it is just too bad he had to hit us with a 2x4 to finally open our eyes. But our eyes are open now and we are looking forward.

Thursday, January 13, 2011

2010 in depth....metaphorically of course

When we said goodbye to 2009 we said 2010 couldn't possibly be worse than its predecessor, we were hit hard financially considering our income solely survives on construction. Mostly new home construction at that, and we all know the crash we had. We knew times were still tough, but things had to get better, right? They had to.
But nothing else made 2009 so awful; looking back now it was purely superficial that we were so distraught. Oliver was born in 2009, wasn't that enough reason to celebrate a year? The year of the birth of our only son, our last baby, how dare we take that so lightly? How dare we complain about what we no longer have when we know we still had so much more than many? But isn’t that life, always putting things into perspective for us.
2010 started out just like every other year, filled with hope. Filled with thoughts for the future! Wonder what that year will hold with an anticipation that we keep filled with hope. Maybe this will be the year we find seizure control for Lily. An amazing contract that makes us lots of money. A new car! A winning lottery ticket! But then the year went on and it was just like 2009, well in fact financially speaking, a lot worse. Ouch. Its ok we’ll figure it out we say as we stress each month to make the mortgage payment, and all the other bills we managed to rack up in the years.
Then when I wasn’t even looking the big bad wolf comes and blows our home, and he blows it hard. The whole house shakes and everything falls, breaks and is in shambles. I am left sitting in a room that used to be my living room and nothing is where it was. It was a disaster. A complete and utter disaster. So what did I do? I start putting things back where they belonged. I cried and wiped my tears while I quickly put everything back where it was so it looks like there never was any disruption. How can I ever admit our home was so weak that the big bad wolf was able to blow it and ruin everything? So I cleaned, I swept, I got it almost back to where it was and then as if to say he was not through with us he comes back and blows our home again, but this time much harder and I can hear him say “Ha! Fix this!” and everything I put away was once again all over the place but this time this blow by him was worse, more damage, many more repairs were needed. And this time I don’t get up, I give up. I sat in my living room surrounded by another huge disaster, not knowing what to do. So I do nothing. I sit. I cry. I sit. I cry. My head is in my hands and I quit. I can’t get up. I can’t put things back. Things are broken. Things are ruined. Some things I cared dearly for were broken beyond repair. The mess I was once willing to clean up, was finally too big for my hands because my hands were tired. My only thought was there is nothing left for me to do but leave. Let someone else deal with this mess. I am too tired to fix this. I am too tired to care. I tried so hard to clean this up, but now I simply cannot. I am done.
So there I sat amongst all my stuff, misplaced, broken, some of no use. And from the corner of my eye I see a light, a man, long hair, lots of facial hair, a kind smile. He takes a book he sees on the floor and picks it up and places it on a shelf that wasn’t for books. Then he takes another book and places it next to the other. I mumble to him, that is not where the books go, but he smiles and places another on the shelf. Then he hands me a book, but I look away. He keeps putting books on the shelf.
Then my husband walks into the room, sees me, sees the mess and starts to sob. He falls to his knees; he is overwhelmed with grief and is paralyzed with fear. He tries to hold me, but I push him away. He tries to talk to me, but I turn so I cannot hear him. This is his fault; he didn’t build a strong enough home. I hate him. I hate everyone. I hate everything. I even hate that kind man over there putting those books in the wrong place. Hate consumes me.
Then my husband sees the man and the man hands him a book, my husband looks at the book, at the shelf he is placing them on and at first looks confused, then looks at the man, smiles and walks over to that shelf and places the book on it. Then the two work together. I still sit unmoving. The man again offers me a book to put on the shelf but again I look away.
There still are books on the floor but my husband and the man start to move furniture around and not where it belongs. “The couch doesn’t go there” I mutter, but no one hears me. They keep putting things away in different places, but I start to notice they are placing these things in better spots. I wonder why I never thought of putting that chair over there. I watch the two men smile and laugh while putting this home back together. I sit in awe. My feelings of hate start to fade and maybe I don’t want to leave after all, I’ve never seen my husband work so hard on anything before. He and that man are determined to put this home back together. My heart starts to soften some but I don’t really want to help them yet. I just sit and watch.
Then the man hands me a book. I look up at him and look down, feeling guilty, but not ready to help. The two men continue to work. They continue to put the home back together.
The man again comes to me and hands me a book, this time I take the book, and I walk the book over to that shelf, the wrong shelf, the shelf that was not intended for my books and place the book on that shelf. Then the man hugs me and lets out a loud glorious laugh and I can’t help but join him. Then the man points to my husband, and we walk towards each other, hug each other and we cry. Then together all three of us work together to put things away. Some things were broken and never got to go back at all, something things we managed to glue together and others stayed unchanged just in a different place.
Hardly anything went back where it belonged but it all went together so much nicer than before. Every once in awhile I get annoyed when I forget where that cup goes and I curse the big bad wolf for changing everything so completely. I curse his evil heart; I curse how he ruined our home and then just disappeared, no concern, no sympathy. No intention to help, but to move on and ruin other homes. But at that moment when I feel that hurt swell, I look over at that kind man with the long hair and warm smile and he smiles at me and gives me his hand and lets me squeeze it. We talk about the anger and we talk about that big bad wolf and pray that one day his heart will soften and while I do this that swelling of anger releases.
But the best part of all is when it is dusk and still, I look around at everything and think this is how it should have always been. I am happy for the changes. The way things were was never forgotten and sometimes I miss my old book shelf, even though the new one fits so much better. It took awhile to get used to but I’m grateful now to have things where they belong, where they always should have been. If the big bad wolf never blew our house and left it in utter dismay, we would have never welcomed HIM back in to help us put things in the proper place. We would have continued walking around banging our shins and stubbing our toes, never looking to HIM asking where should this go?
Now our home has a shield around it, it is built not with only bricks and cement but also a form of unity that the big bad wolf cannot penetrate. It is watched over by HIM and we are no longer defenseless.
2010 shook us to our core. But had it never broken us, we would have never learned how to repair us.
So bring it on 2011! Our priorities are set. Our shields are on. There will never be another 2010 as long as we live, in reality or theory. And while the big bad wolf may come again to rear its ugly head, we are prepared and we say bring it on!

Monday, January 10, 2011

Happy Birthday Emmie

Emmie you are certainly missed. We were watching family videos last night and we saw several taken at FBC (Lily's pre k) and Emmie was on a lot of them. Smiling, "sledding" on snow day, dressed as pretty as possible. I can't imagine the heart ache her parents face each day not able to care for her like they spent 8 1/2 years doing. Today is Emmie's 9th birthday. I wish we were going to go and celebrate with them. I wish she were still here. We miss you Emmie. You were something really special and we feel honored to be able to love you.
Happy Birthday sweet girl, may you be running and dancing and filling heaven with your light.

Thursday, January 6, 2011

Eye See...

Lily has to see the eye Dr. every 3 months while on Sabril. It can cause tunnel vision (gotta love the side effects each and every AED brings) and the Dr. has to check for nerve damage every single visit to make sure she can stay on Sabril. At the last visit I mentioned I thought Andi Jane had a very slight strabismus and he said bring her in the next time Lily comes in so that was today. And let me just pat myself on the back for having all three kids fed, dressed and at the Dr. (who is a good 45-50 min from home) by 9:05am for a 9:15am appointment, that alone is worth the mother of the year award. Anyway, this eye Dr. is fabulous. It took me three guys to find him. He has bedside manor of a saint. He explains every number or medical term he tells his assistant to write down and he is bilingual, doesn't matter to us, but that is pretty cool and he is rather good looking so it makes the time there even more fun. So the first lady tests Andi Jane's vision and I am surprised she can't read the letters on a line I think she should have. They say she is 20/30 and no concern yet, but they will follow up. Also said after dilation she has an astigmatism just like me and Lily. Still not so bad that she needs glasses yet, but they also diagnosed her with strabismus (imbalance of eye muscles) it is very slight as I am the only person who notices it and I have also diagnosed Andrew with it which just embarrasses him, but I know my stuff, Lily had surgery for this when she was 4. I know my eyes. So anyway no patching just yet for AJ, but he recommended some eye strengthening exercises, but if she shows no improvement by April we will have to patch her. I just figure fix this all now or else no Vogue later. :)
Now Lily's turn. We have been told for years she has astigmatism, but her CVI has always been so bad he always said glasses would be more of a pain than a help, but today he said her tracking was so much better and her astigmatism is getting worse that what she is able to see is pretty blurry so he finally recommended glasses. We have been told for YEARS that her CVI has to get better before he will rx glasses and the day has come! Yippee! Now imaging Lily keeping glasses on is humorous to us, but we will give it a $200 shot. Sigh. I was actually surprised that her rx was -2.25 in both eyes! I was 25 when I had lasik and my rx at that time was -3.75, that is not that far behind. Poor little girl, even with crazy CVI she should be seeing so much better. We will take her to get fitted maybe this weekend. Cute Lily bug.
We follow up in April on that as well.
Just wanted to share, that was this blog was started for almost 8 years ago, Dr. appointments, then I started getting carried away with posts about my hair and then Andi Jane came along and well the rest is history :)

Sunday, January 2, 2011

And the winner is.....

this thing took all day to upload, by the time it finally uploaded we found out we did not win the Pepsi Refresh Challenge again :( but we do appreciate all of you taking the time to vote every day... at least we can rest assure that yet again 3 animal charities will now get $50k. (again, I love animals just not nearly as much as I hate CDKL5)

drum roll please...

Heather, contact me please, I can't get your info from blogger (knothdurft at gmail dot com) :)

Saturday, January 1, 2011


2010 you brought me some of my darkest hours. brought deep pain. you brought so much change. change that never would have came without that darkness. so while i will never say i ever liked you, i simply survived you. but i am better because of you. 2011, let's not be so deep. keep it light for my sanity sake. rainbows and butterflies please.
pepsi results 1/3, thanks to all of you for your diligence!
i will post contest results tonight, i work this am and andi jane is still sleeping

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