Good Morning and THE DENTIST!!!

05/07/12

 I had to do two separate ones for this because I wanted the dentist post to be different than the sewing room!

 Well good morning sunshine!  I just had to show you guys the beautiful face I get to wake up to every morning.  This face was a wake up before she was ready :)  But that's ok!

 And then I get this when I try to be funny with her...I guess she wasn't ready!

 AT THE DENTIST!  WOW!  She did great.  She loved the hose.

 Getting her teeth flossed.

 More sucking!

 She just had to see what happened if she put her finger on the sucking hose!

 Brushing with fluoride.

 Picking out a prize for being such a good girl.

 She got...a fluffy bunny!!!

 And the dentist came and checked her teeth.  Everything was perfect, he was an awesome dentist that we WILL be going back to for 6 months, and she did great!

Her teeth look perfect, and he said the spacing is so good that she probably won't need braces!  Oh yeah!!

Amanda

My Sewing Room and a Gift for a Friend

 05/07/12

I cleaned my sewing room again and added a bed so if anyone visits, they'll have a place to rest their heads :)

 Of course it's messy, because I can just never keep it clean for too long, it or anything else in all reality.  Th bookshelf on the far right...see the second shelf...with all the binders?  Those are food storage binders, emergency prep, holiday preparedness, G's medical binder #2, date binder, G's baby books, school book, Young women's binder, Grace's general conference binder...and I think that's it...

 So pretty :) 

So so pretty :)  I love crafts!!!

 

And this is my newest craft I made for a friend. 

Amanda

Grace's lip the Next Day...and her Medical Binder

 05/04/12

 This was written on the 13th, but the pictures were taken on the 4th.

Well, these pictures are flip flopped but that's ok.  This is her medical binder.  now there's a ton more stuff, but only the paperwork that has her actual diagnoses titles on them are in here, along with all her assessments, paperwork for her IEP coming up, and tons of other stuff.  This was prepared (by me) when she first started having her back issues when she was 6 months old, and it's grown to this.  She's got a big storage box with files hanging in it, and about 4 3 inch thick packets of medical paperwork.  This is a 3 inch binder.  We have her meeting this Wednesday for the pre-IEP discussion.

 So we get to see her lip the next day.  Other then licking it every so often, it didn't bother her one bit!

Super goofy face but I just had to show her goofy side!

 There goes that eye again.  I can't wait for the day it doesn't turn in anymore :)  Soon enough sweet girl!

Poor thing...look at that lip...makes my skin flop just looking at it...

Amanda

Just Hanging out...and then a doozy of a sad day...

 05/03/12

Grace was being super cute today, so we've got some cute pictures to share...but it's not all fun and games...and it still makes my stomach just to my throat when I think about it or see the pictures...

 Grace watching Daddy play his game!

 We have one like this with her as a newborn except she was laying on his chest looking over his shoulder.

 Being so silly!

 AH!!!

 Mommy and Grace reading.  You will find us like this, sometime throughout the day, every day!

 AH!  Silly mommy wearing a headband from a special friend!  Thank you Keri!

 Reading, reading.  The sadness is below...beware.

 And then the sadness....  She was in her Melissa and Doug grocery cart, and brother was pushing her around....well, the front tires turned quick and she flew out of the cart right on her face.  There was more blood then I've ever seen come out of her little body.  I almost threw up, almost screamed, almost could have bit his head off, blamed him but knew it wasn't his fault, almost pulled my hair out because she wouldn't stop screaming!!!  I'm usually pretty good with blood, but I've never dealt with that much.  I'm also usually pretty good at comforting her but never had to deal with something this painful and I was just SUCH a newbie with this kind of comforting.  I absolutely flunked!  I took her outside after giving her pain meds, blew off some steam with stomping (it really helps), smelled some flowers/trees/anything that we could possibly smell to get off the pain factor, and then bath-time, where everything was forgotten...except when I looked at her mouth and my stomach flopped every time.

Watching Sesame Street, Grace's ALL TIME FAVORITE SHOW!!  Elmo, Pooh Bear, and Minnie are all tied for her FAVORITE FAVORITE FAVORITE character!!

Well, another day, another trauma.

Amanda

TODDLER SCHOOL!!!! PART ONE!!!

May 2, 2012

So this is an INSANE amount of pictures...and they are horrible pictures because I had to take them without flash through a two way mirror.  So take what you can get, huh?  It's just the memories that matter.  And as long as the pictures are understandable enough to remember, that's all that matters.

Grace's first day of school picture, and of course she had to look away right at the last second...ug...the eye...we WILL be getting that surgically repaired SOON.

See the backpack sticking out with the blue jacket?  That's Grace's cubby!  She's watching them put toys up on the shelf.

Grace checking out the class.  This is what she does a lot of the time...I think there's way too much commotion for her and she gets overwhelmed, and so she has to stand and watch, just take it all in to understand it.

I wanted to get the classroom so you guys could see her fun place!

Chummin' up with the teacher while she gets snack ready.

Ok...here's all the cubbies, sign language poster, etc.

The slide (they were cleaning up so there is a ton of stuff all around it)...

The other side.  That's the play house area, and Grace's class is Zoo themed this semester.

They were supposed to be dancing but she was overwhelmed, so she's sticking her tongue out at the teacher instead.

There she is on her special red carpet.  That's hers, and ONLY hers.

Wiping her hands for snacktime.

Throwing the wipie away.  If it would have been a second earlier it would have actually looked like she was throwing something away.

This is what happens when you pour Grace a whole glass of water and just put it in front of her.  I mean, HELLO?!!!

Still cleaning up while she tried to grab her cup and pour it out (it was empty though).

Ok...you're learning...slowly.  Don't let her hold the cup by herself unless you want a mess again.

Snacktime!  See the hand sneaking into the bowl?  Yeah, that's NOT supposed to be happening, but once again, they aren't very observant. 

Look at that sweet face!

Helping her scoop out of the bowl.

APPLESAUCE!!!

And then there goes the hand into the applesauce.  Who can resist?  I mean, something cold, wet, and food that you can squish your fingers into?!

Second try...

"But it's too hard so just give me a cracker...I mean, I'm signing it! HELLO?!"

Applesauce third try...it's on her right hand AND all down her chin.  You see it?!  SHE'S SO CUTE!!!

And getting some more assistance with drinking.  See that napkin with three pretzels on it?  Yeah, in about 2 seconds, that was yanked over to Grace.  She was hoping to snag a pretzel without being seen, but surprisingly, the teachers were fast enough!

So I can't believe she's in school.  Makes me cry if I think about it too much.  So I won't.  I love you Grace.

Amanda

A Tornado of Time has Passed

I can't believe it's been so long since I've posted.  An amazing amount of time consuming things have been going on, or coming up, and so I've been absolutely bogged down, unable to even spend a minute typing on this blog.  Major updates are needed, and here are some hints below:

1. Grocery Cart
2. Fat lip with lots of blood
3. Corner of door
4. bruised face/puffy eye
5. Traveling
6. Airport
7. Homework
8. Sign language
9. Therapy
10. School
11. Doctor Appointments coming up

See, so many things to update on.  It's SO overwhelming that I've sorta distanced myself from the blog because of the huge chunk of stuff I have to update about.

It's only 10:23, but I'm bushed.  Busy weekend this weekend, busy week this week, absolutely crazy week next week.  Better get my sleep while I can.

Amanda

Grace says HI!

Grace was hanging out bein' cute, so I thought I'd snap some pics :)  So CUTE!  Don't you just love her slippers?!  Thank you Wilma!

 She says, "Hey there!  How are you?!"

"I'm HUNGRY!"
Amanda

Genetic Information

I am so excited to say that I've found some genes that were deleted to have been the cause of other diagnoses for Grace!

So, Grace has 7q36 gene deletion, which means 25 genes were deleted from her genetic makeup. Two of which, so far, I've found out were specific to her other symptoms. The gene SHH (sonic hedgehog) deletion caused her Microcephaly, and the deletion of her EN2 gene caused her cerebellar vermis hypoplasia!!

Ok so this is super scientific but whatever. I'll try to make it as English as possible! So, her cerebellar tonsils and inferior vermis are hypo-plastic, which means didn't grow enough, and because of this, it causes loss of fine motor control, which is what she has. Along with this, it also controls eye movements (which have been affected), body and limb movement (which has been affected), and also is associated with planning, initiation, and timing of movements (which has been affected)! This is so interesting, right?! Ok, something else I just read...the stunted growth of the cerebellar vermis is inherited through an autosomal recessive pattern, which means the gene HAD to come from both of us since it's recessive (which means it's not dominant), and it has a mutation on the X chromosome. Grace had a 25% chance of getting this stunted growth of the cerebellar vermis since we both passed on the gene.

Next are some specific genes and what they do, well, would have done had she had them.  XRCC2- Essential for repair of DNA double strand breaks.  Also, a subtle variation in DNA repair capacity (the ability to repair) may influence cancer susceptibility.  DPPX6- influence in nervous system development.  Also encodes putative component of transient current in heart.  Encodes components to make sure the heart fires correctly.  PAXIP1- link to expression of Alzheimer disease.  HLXB9- Involved in regulation gene transcription (genetic information copied from DNA - RNA resulting in specific protein formation) in lymphoid and pancreatic tissue.  Involved with mutation of sacrum!  HTR5A-expressed in nervous system.  INSIG1-Expression high in liver and plays a role in regulation of cholesterol biosynthesis, where, in the liver, the cholesterol is converted into bile.  EN2- controls cerebellar development and could cause more susceptibility to autism.  NOM1- function in protein translation (the production of a certain amino acid).  DNAJB6- Stimulates ATP hydrolysis (derives energy from food/sunlight and muscle contractions).  Your metabolism basically.

So, there you have it.  Shew...that is a lot!

Interesting stuff, huh?

 

Amanda