Wednesday, April 29, 2009

Choose your battles

Andrew and Andi used to fight all the time about what she was wearing. He'd say "want to go to the store with me" of couse she'd say yes, that child will not can not miss an opportunity to get something, anything, please, please, please. So he'd say, ok change your clothes and she'd run into her room and come out in a princess dress, "glass slippers" and tons of beads and sunglasses. Andrew says "no you are not wearing that" then the fighting, screaming and crying starts and that is just Andrew. Finally he'd storm out and she'd be crying wearing a t-shirt and shorts. I took daddy aside one day and said "why can't she just wear what she picks out?" He says a few things that all make sense, but not enough for all that drama. I challenge him to just let her decide and see how their relationship changes and boy has it ever. It really was the only thing they faught about. But I guess I should have maybe gave him some guidelines because I watched him and her go to the store the other day. Andi was wearing a swimsuit and sparkly shoes. Nothing else. She looked like Miss America. Going to Fry's. I'm pretty sure I would have at least thrown on a princess dress over that.

Wednesday, April 22, 2009

Validation part duex

I had to take Reading up until the 8th grade. Not because I couldn't read, it was because my comprehension of what I was reading was less than to be desired.
I have been going over and over this paper, trying to understand it and the more I read it the more sense it makes. Well as much as a gal who completed HS and one year of community college can grasp ;)
My friend asked if the dr was going to download the report on my ipod. Now that is someone who knows me. I don't read. I listen. So sue me.

This is my comprehension of why this deletion affects Lily so much.

"A deletion involving regulatory sequence of the CDKL5 gene is likely to affect the amount of mRNA produced and in turn the amount of CDKL5 protein"

So our CDKL5 gene provides a protein and your brain requires this protein to be at full function.

"RNA analysis was performed to determine the amount of CDKL5 mRNA produced in thie patient and was found to be decreased by 50%. This deletion therefore appears to result in the decreased expression of the CDKL5 gene in this patient."

So that makes sense. Not that I entirely understand the CDKL5 gene, but knowing that she is missing one little thing in it and that makes the gene work half ass and causes so. many. issues.
It sounds like we just need to find the ingredients of this protein, throw it in a shake and wala.

Ahhh why can't it be that easy.

It does put a fire under your butt though. I mean I cared when I got the verbal dx over the phone, but didn't understand any of this. Now that I am reading and reading and reading this I see that my daughter is missing something so tiny in her system yet she appears to have been affected more severely than a child who has had half their brain removed. It makes no sense to me and I am really fired up about this. There has to be something that would make this work correctly. I hope/wish/pray it is something we can find enough funding for so it can be done.

I just had to post again on this issue. I had no idea what I was reading yesterday and posted obviously with no knowledge. Now it is 6am and I am feeling a little more knowledgeable about this. And annoyed with this as well.

Tuesday, April 21, 2009

Validation

A week shy of 6 months, finally I hold in my hands the diagnosis report from the U of Chicago Genetic Services Laboratory.
Here is her result: Deletion involving exon 1 in the CDKL5 gene.
So my gut was right from the start. I KNEW my daughter had a variant of Rett Syndrome. It is a hard pill to swallow when it is a more severe version of an already devastating disease, but it is SO nice to have a name. I know we got the name in October, but I needed to SEE in paper what it is. Not hear about it over the phone.
Andrew and I were negative, meaning "this mutation is therefore a de novo event in this patient. In addition, over 100 normal control samples were also analyzed for the CDKL5 exon 1 deletion and not found to be present, indicating this deletion to less likely be a polymorphism (benign alteration). This deletion is the likely cause of this patients disease phenotype."
Wouldn't a party with a room full of geneticists be a hoot?!
Wow. So weird to come to an end with this. Humm what's next?
I guess the only thing left, to do something to find a cure and stop this from ruining future lives!

Thursday, April 16, 2009

Long awaited

Baby is asleep, got Lily on the bus, Andi is eating oatmeal watching Sprout, I think I have time to update. Long overdue.

We got a call early Good Friday morning that Andrew's dear Aunt Carol had passed away. Carol was an amazing woman. Carol and her family came to our wedding in Mexico almost 8 years ago. We watched her para sail. Carol sent everyone a hand made card for every holiday, not just birthdays and anniversaries but I mean Easter, Thanksgiving, Halloween, etc. She made our girls beautiful quilts Christmas 2007 and was just one of the most selfless people we have ever met. We got a call a few weeks ago that she wasn't given much more time so Andrew flew out to see her and she was up and aware and spoke with Andrew and he is so happy that he was able to have that time with her.

After the call we had some decisions to make and plans to make. We decided cost wise just Andrew and I would go, of course Oliver would go with us. My mom looked after the girls for us. We had to make the trip a quick one and boy did we ever. Too quick.

We flew out at 8:45am and after a layover in Denver we landed in Sioux Falls, SD at 4pm. Got a rental car and drove straight to the funeral home where the viewing was. I was surprised at how this cancer took over such a once vibrant woman. It had been too long since I had seen Carol and it broke my heart to see the devastation this cancer can cause. Oliver must have had gas or something because he was inconsolable pretty much the entire time we were at the funeral home. I nursed him several times, burped him, Andrew had him in the bjorn, I held him while he slept but that was all too short. The place was packed which is such a great testimony to the woman we were honoring. We didn't get out until around 9pm, got a bite to eat with Andrew's brothers and families (sad that it had to be a funeral, but it was nice to all get together) and we went back to Andrew's oldest brothers home. Our sweet 6 year old nephew was kind enough to loan us his bed! They had a pack and play and I laid Oliver in it and that kid was out until 6am the next day. It was 4am out time, but I was thankful for that block of almost 8 hours of sleep!

We had some running to do in the morning, my flower fell off my shoes I was borrowing from my mom and it looked pretty silly with one shoe with a flower and one without, so we had to run to town for some shoes for me. We packed very minimally so an extra pair of shoes was not in my plans. Back to the house, then over to Carol's home, her husband and son had food at their place, we stayed there until time for the service. Andrew's uncle is such a great guy and it is so heartbreaking to see how broken his heart is. You just want to do something to help the hurt and there is nothing you can do. Death is just so hard to comprehend when it isn't someone who had lived their life as long as they should have.

I am pretty sure God had a hand in the fact Oliver fell asleep in the car and stayed asleep through the entire service. So did his cousin Jayda, only 11 days older than Oliver, so we were able to enjoy the service. Well enjoy isn't the right word. We were able to listen and pay our respects from the pew, not bouncing around in the back with a fussy baby. After the funeral we got to talk to people we hadn't seen in years. It was nice catching up with my in laws, so many of them! Not just Andrew's immediate family but cousins, aunts, uncles, grandma's, etc. I am pretty lucky to have married into such an amazing family, and one about as big a mine, that isn't easy! :) I hate to say it was a good time, but it sure was nice to see everyone. There were 4 babies all born within the past 4 months! They all slept thru the service! But just as soon as we got there, we had to leave. We had to get back to the airport by 6pm. Oliver slept on both flights back home. We got home at 10pm, but we landed in a different terminal than we left in, meaning our car was parked on the other side of the airport! So Andrew grabbed a shuttle, I waited for the car seat, then he picked me up. We knew our gas was low but thought we'd make it to the gas station by our home...ha. It was 11pm and we run out of gas on the overpass! We coast to the off ramp and call my dad. He comes in like a knight and brings us gas. We get to a gas station and home by midnight. My mom was up waiting for us and told us the kids were great and went home. Oliver was out and slept until 6am and then our day started yesterday. It was a long tough one.

But we are home. Things are back to normal and the girls were awesome while we were gone. I realized I would be lost without my parents! Man without them we would have had to take everyone to SD and be paying for the next several years on it and would be still waiting for gas on the freeway ;)

So I can honestly say I married into a great family as well as Andrew did. How did we get so lucky?



This is pretty much how Oliver was the entire time and this is his sweet natured cousin wondering what could possibly be so wrong. Oliver and Jayda, isn't she so pretty?! Andrew and his brothers





Papa Steve and Grandma Cheryl with the latest edition in Grandbabies

Wednesday, April 8, 2009

Quick update

Andi had her 4 year well check. 40 lbs, 44" tall. Perfect vision, hearing and blood pressure. I split her shots up since she really doesn't need them until next year and it's a good thing too, she freaked! I told her ahead of time about them, she said she wanted them, but when that needle came towards her she flipped. I had to hold her tight. It was really sad! The area is still red two days later, I know that tetanus shot hurts, I had to get one several years back after stepping on a nail...yeouch!
Oliver had his 2 month well baby and was 13 lbs and 23.5"! Head is growing perfectly (something I am a little over cautious about) his head control is far beyond his age and he looks perfect. I did go ahead with his vaccinations. I went over and over my concerns with their ped and he understands and let me make all the decisions. I will always watch my kids like hawks anyway so if I am afraid there is something not right we can always delay the vaccinations as needed. Our ped knows me and my freakish ways. He's been our kids ped since we've had kids. He knows Lily in and out. I hate watching my babies get shots :(
Lily is good except she has yet again another runny nose. Ugh! It's either allergies from being outside all day Sunday or another cold, either way it sucks. Whenever it starts we know it will be at least a month for it to go away.
Baby screaming, must go.

Thursday, April 2, 2009

Spunky Andi

Why do I need to think of something to say when I can just repeat what my 4 year old says...
Andi had a shirt on with a word on the back
Andi: This shirt says barbie dot com
Mom: No it doesn't
Andi: What does it say then?
Mom: Guess (as in the brand)
Andi: See I told you it said barbie dot com


Andi: Mommy
Mom: Yes
Andi: On my birthday when I turn 5 can it be a surprise party?
Mom: Sure


Andi: Are skunks bad?
Mom: No
Andi: Then can we go to the skunk store and get one?
Mom: No

For financial reasons we had to pull Andi out of pre k so these are the conversations we have all. day. long.

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