my two states of being

for the past year and a half i have had two ways of thinking that i use.

1) Holy crap my kid has special needs!!! What the heck do i do now!!
2) This isn't so bad, i think maybe i can do this.

i have found that i don't use what would obviously come between these paths. there isn't a transition from one to the other but more like a violent shove. i can feel OK one minute but then i realize how fragile that moment of "OK" is when i get shoved to the other side by something that probably shouldn't be a big deal. it doesn't have to be something big though. just something, anything. i think this is because i never feel really, truly safe in any moment of happiness. i am always waiting for the next "thing" to happen and so far it has. i have just reached a point where the pain is so consistent that it doesn't hurt. i can live like that for a long time. thinking the pain has stopped. but then something little happens and all the pain comes back.

i know, i know. it sounds so dramatic. let's take the last five minutes as an example. Emmeline climbed over and wanted me to hold her, which i did. then she wiggled and her extension unplugged. leaking stomach "stuff" all over me. twice. did i mention that i just showered and put on clean clothes? i try and regroup. em is playing with a paper on the desk. she grabs for the keyboard and almost deletes my post. i say no. she bursts into tears like i just slapped her so i try and calm her down and what does she do? yep. pukes everywhere. but of course waits until i have her in a full cuddle. that is just my last five minutes.

i will admit it is easier to deal with crap from Emmeline because after all she is just a baby. a mean spiteful baby but a baby none the less. this morning, however, was filled with yet again with medical "professionals" who thought i was annoying and uneducated for questioning their orders. it makes me sad that more people don't question their doctors, but it was evident with the way they "handled" me that this wasn't something they were used to.

hopefully i will soon have a doctor to back us up instead of question everything i have done that has successfully kept Emmeline alive, happy, and growing for the last year. the pediatrician i have been begging to see has agreed to take Emmeline in his practice. now we only have insurance to stop us. see, planning ahead.


The Sleep Study

so in early november emmeline's new ENT ordered a sleep study. well, since it is now early december i called to see why we hadn't heard when our appointment was. they told me that the soonest appointment was in march. when she started to make my appointment she asked if i could hold. i don't know why they ask that. what would happen if you say no? anyway, when she came back she said they had just had a cancelation and could fit em in the next night. last night. josh and i talked for quite some time about who would stay wit her. i have a significant amount of anxiety surrounding hospitals and there fore would love to never have to set foot in one ever again. with emmeline this isn't really possible. josh was willing to cancel his school obligations to stay with her but int eh end i knew i would be just as stressed if i stayed home then i would be there. or so i thought.
for those of you who have never had one done, it stinks. they stick a ton ~25-30 little sensors to you all with their own cord. then they taped them all over her body. legs, chest, neck, face, head, back, you name it. after all those were on they taped a sensor on her upper lip and then put on a nasal cannula. needless to say she was most seriously displeased.
she had a very hard time falling to sleep. obviously. they wouldn't let her sleep in her nap nanny so that was an adventure as well. the nurse kept coming in and telling me to comfort/cuddle her. after a few times i finally broke down and told her that emmeline doesn't like cuddles when she is angry. she doesn't want pitty she wants results. she isn't crying to be held, she is crying because she wants you to take this crap off of her and if you wont do that she doesn't want you to touch her. the nurse was a bit surprised by this but in the morning she told me that whenever em would wake up she noticed she would just look to see if i was there and then i would touch her hand/back/face what have you and she would go back to sleep. seriously? i was right? who knew that the person who has taken care of her for a year would know what they were talking about?!
anyway, after a few hours em had had enough "episodes" to be put on a CPAP. they are terrible and i did not take a picture of her in this because there was no way i was going to make her wear it for even a second longer then she had to. it was awful. it basically blew high pressure air up her nose to keep the airway open. i was sure she would hate me in the morning. i was pleased to see this face in the morning when we took it off of her.

they had to wrap her head in gauze she she wouldn't pull off the sensors. we had already removed the lip and nose stuff at this point.

if you thought the first smile was happy wait until you see how happy she was to have everything off.

note the crazy hair. this was after i had smoothed it down. it took a while to wash out all the glue but she sure was happy.

all in all she has...obstructive apnea. who knew? oh wait, i did!


what i woke up to this morning

the saab's christening.

trees and stuff

when i told josh it snowed he asked if i was just saying that to get him out of bed. like i am coherent enough to plan a joke when i first wake up. would have been a good one though. maybe kind of like setting the clock forward 2 hours on someone's morning to sleep in.


"Feeding" Therapy and Project Runway

so since we were cleared to do official feeding therapy i have been doing about the same thing. just a little more aggressively. em hates that part. she like to be in control, as well all do. it is a fine line between pushing her too much and pushing her right to the edge. anyway, i got these cute pictures of em the other night. i had stopped working with her to read to Isa for about 4 minutes at the most. she was totally clean when i started reading. this is how i found her when i looked up.

you can see the mischief in her eyes.

and the close up. it took a while to clean her.

the other day Isabella wanted to watch the project runway marathon that came on before the finale. Isabella was totally engrossed in it and i finally had to make her turn it off. she then spent the rest of her day designing and outfit for me and my fictional cat (bottom left) complete with a pink headband, green leash for the cat and the detailed blue elephants on my shirt. rather then drawing the elephants on the shirt she drew each one separately and then taped them exactly where she wanted them. she even started with a sketch of the design complete with color swatches for each piece. it was adorable and very well thought out. she even made a cute little pink cape for my kitten and designed me socks which you can't even see once you put on the boots she picked for me. ever since then she keeps talking about her "style". i love it.


my little mutant

i have tried to write this post several times. each time i find it difficult to type. once everyone knows there is no backing out. not that it would go away if i didn't tell, but if no one knew then i could pretend it wasn't there. acceptance is hard and the more people that know the more i have to accept.
anyway, enough drama.
Emmeline has been diagnosed. after a year of people trying to figure out what might have been causing all of these complications for her they have finally figured it out.
She has CHARGE syndrome.

this article is the most accurate info the medical community has on CHARGE right now. it is a bit technical.

this is the link to the national CHARGE foundation. it has all kinds of info on it that is easier to understand.

Texas happens to be the only state in the US that has a state CHARGE group. here is their website.

they ruled this out in the hospital last fall because she didn't have enough of the major markers but her geneticist finally decided we couldn't rule it out without running the genetic test. now, for those if you who might read about this test. you can have CHARGE without the genetic mutation but you can't have the mutation without having CHARGE. Anyway, she has the mutation.

i have added below a portion of an email her geneticist sent o me about CHARGE and the specifics in regard to emmeline.

Some of the symptoms of CHARGE such as colobomas of the eye, heart defects, tracheoesophageal fistulas (which a hole connecting the airway to the digestive tract), and ear differences occur early in development. If these are not present at birth, then they will not occur in that individual. Other symptoms such as delayed puberty, delayed milestones, and short stature are symptoms that develop over time. These are things we should be watching for and treating if they develop. As you are aware, Emmaline does have choanal atresia, mild-moderate hearing loss, and some motor delay. You are doing all the things we would recommend as treatment for these concerns.

As for the developmental/psychological concerns with CHARGE syndrome, it is difficult to predict at this early age how Emmaline will do developmentally. We know that children with CHARGE typically have delays in motor development that result in delays in walking. Children and adults with CHARGE range in their learning abilities. Despite delays early in life, studies suggest that approximately 50% of individuals with CHARGE have learning that is normal. However, Emmaline has some things working in her favor and other things complicating her development. Emmaline is lacking many of the birth defects that keep other children with CHARGE in the hospital and immobile for long times. She does not have visual impairment or severe hearing loss which can contribute to delays and struggles with learning. Predicting her developmental future is complicated by the prenatal stroke she had, which is unrelated the CHARGE syndrome. Overall, Emmaline will have to show us how she is going to develop and learn. To help her, we can keep a close eye of her development/learning and get her help as soon as she shows any signs of struggling. At this point, that means having her development followed by early intervention services.

To understand the genetics of CHARGE syndrome, it is important to understand that a person has two copies of each gene. Genes are instructions that tell our bodies how to make the equipment our body needs to grow and develop. In most cases, a gene will be instructions for a particular protein. Changes or mutations in a copy of gene can cause that protein not to work and the body to grow and develop differently. Many different changes in the CHD7 gene have been associated with the signs and symptoms of CHARGE syndrome. Emmaline’s gene change has been seen in others with CHARGE syndrome.

Emmaline’s gene change is called R2653X or ARG2653TER. When naming a gene change, scientists include the location of the change and what is changed about the gene. In Emmaline’s case, her change is at the 2653 letter in the gene. If there wasn’t this change, the next building block in the protein at the 2653 place would be an arginine (abbreviated R or ARG). Instead, the change causes no more building blocks to be added the protein. We call this early termination of a protein, abbreviated X or TER. As a consequence, the CHD7 protein is not completed and does not function normally. Three other individuals with this gene change have been reported in a paper discussing a number of different gene changes. These other individuals with the same change were not described in detail. However, they must have had one or two major characteristics and several minor characteristics of CHARGE to be included in the study. At this time, we do not know enough about Emmaline’s change to give you specific information about how this change will affect her. As time goes by, we will continue to monitor what is published in the literature and provide you with any specific information that is discovered.

so overall, we will have to wait and see if she develops any of the other symptoms and how they will affect her through her life. it seems to be a syndrome where you treat things as they come but there isn't really any way to prevent things. as a side note, there aren't any other documented cases of someone with CHARGE also having a stroke.

so, welcome to our waiting game.


1 Year Ago Today

A year ago today Emmeline stopped breathing and had to be put in the hospital. It started one of the hardest year of our lives. It would change things forever. We have all been through a lot this year, especially Em. I thought i would share some pictures of her adventures in the last year.

This picture is actually of emmeline on oct 8th 08. this was right before the failed choanal atresia repair. we thought this would fix everything. silly us.

This is right after the above mentioned surgery. looks OK right? that is an IV in her head. the blue tube is blowing O2 in her face.

I thought she looked like Buddha in this picture. notice how she is still grey/blue around the lips, nose and eyes. it seemed so pink at the time b/c she was still better then before.

lucky for us my sister Becca lent us a motion sensor monitor for Em. two days post surgery the alarm went off twice. after going to the Dr and some intervention from God we were sent to the hospital. we spent 11 hours at watauga medical before being sent to Baptist. Josh stayed with her the first night and she was pretty good.

she needed a bit of blow by O2 at times.

The next night i woke up with the morning nurses bagging her with O2. After a tone of Dr, nurses, and many other medical professionals tried to stabilize her they whisked her off to the PICU. when i saw her next she looked like this. i wasn't quite prepared.

we spent the next 5 weeks in the hospital having 5 surgeries.

I know this sounds dramatic but this picture means a lot to me b/c this is the last picture of "whole" emmeline. this was right before her feeding tube was put in. she had had other surgeries before that but none that showed exterior scars. none that anyone would know about unless she told them. this was different, very different.

post g-tube surgery. she was so cuddly looking. she hadn't woken up yet. note all her hair.

Luckily rise and bennie were able to take isabella trick-or-treating for us since we were in the hospital. isabella got to come see us. em had her g-tube installed on halloween. this was pretty soon after she woke up.

I couldn't resist dressing Em up on halloween. the nurses loved it. pretty cute huh?

You can see most of Em's everyday medical equipment in this picture. she looks like she is in prison.

This is Isabella on the rooftop playground. we spent alot of time up there. i can't remember why she is upset.

eventually we got to go home. but not without our portable hospital room. i was so scared i kept O2 on her all day the first few days.

then i relaxed a bit b/c we figured out when she would stop breathing.

we had her blessing right when we got home b/c we weren't sure we would be able to stay home. we were.

Isabella getting ready for the nutcracker.

Christmas Pictures

"All those pictures made me need some aunt Katie cuddles."

"I'm not that tired."

"are you kidding me?"

Baldy Pictures. the Dr thinks her hair fell out b/c of malnutrition in the hospital b/c it only fell out on the top.

playing video games with daddy.

"These pretzels are making me thirsty!?"

Therapy with Appy.

stretching with Appy. no, really, they are working.

Hair starting to come back in.

had to get a picture in the little sister shirt.

Her first Hearing aid.

Spring Day 2009.

Spring Day Bunny.

We finally got her tree planted right before her 1st birthday. It's a plum tree.

Her NC combo birthday party with Appy.

the dread in her eyes is so sad.

First airplane ride. she did great.

Playing dressup with isabella.

Her Texas first birthday. she did manage to get icing on her cheek but not in her mouth. she was pleased.

She really liked the fire. i had to grab her hand so she wouldn't burn herself. (you're welcome Katie).

Random cuteness.

"and then i'll squeeze you, like this!"

inside out lip. i know, it's weird.

Sophie was the first hing to make her laugh.

1st pumpkin farm. she did like it dispite the face.

bath time. she loves to scrunch her face.

she also loves to lick at the water sprayer like a puppy. it's really cute.

I know this was a ton of pictures but this is just a tiny glimpse of her last year. for some reason the fact that it has been a year since the hospital seems more significant then her 1st birthday. i hope you enjoyed looking. hopefully this next year will not be quite as eventful. just nice and relaxed....i can dream can't i?