Getting Impatient

13 weeks

   That is how long is has been since Sadie, my husband and myself had our blood drawn for the genetic testing.  I try not to think about it.  But knowing that parts of the tests are already read and the answers are sitting on someones desk and that the other answers are just waiting to be found in the next few days, weeks... it's killing me!
   At the same time though, I am scared to get the results.  The results will say if it's from my side or my husbands side or if it was a random mutation.  The guilt that we will feel will be unreal if we find out that we are to blame for anything that she has going on.  I am praying that these are all random mutations.  If we are too blame, I can guarantee I will be in counseling and medications cause the guilt will be too much to handle.  Finding answers will come with a price.
 

A Free Special Needs Concert!!

   My niece, Tori, is a sophomore at Caledonia High School.  She is involved in a Percussion Ensemble called Strike.  They are putting on a free concert for special needs families (however, everyone is welcome).  Why?  Because our special need kiddos deserve to hear (or feel for our d/hoh kids) and see some awesome entertainment too (along with mom and dad).   For this one concert they keep the lights on or dim them just a little bit and shorten the concert to fit our kids attention span.  And the best part is, no one will be complaining that "that child is making to much noise" and you won't get any dirty, rude looks from uneducated, heartless people.  :)  The happy noises and voices are welcomed as it is a sign that they are enjoying the music and show!  Please come support these amazing teenagers as they show that fun, teenage spirit that they have as they rock it out on the drums!!

Here's what you need to know!

When: November 26th, 2013  (That's the Tuesday before Thanksgiving)
Where: Duncan Lake Middle School (Auditorium)  9757 Duncan Lake Ave SE, Caledonia, MI
Time: Doors open at 6:30, concert starts at 7pm
Why: For special needs families (but also for anyone else who wants to come!)
Cost: Free! :)


 

This Is Tori.  Isn't she adorable?  Anyways, she plays the mallets/keyboard.  Look for her at the concert.  She has some serious talent and would love to see you there!

2 Yrs Ago Today

 

  Two years ago today I brought Sadie home from the hospital after her 19 day stay in the NICU.  It was a little ironic because this was the day that my C-section was originally scheduled for.  She was so tiny.  As you can see, the car seat was not even safe for her.  That was as tight as the straps could get.  We had to roll up blankets and burp clothes and shove them between her and the straps to make them tighter.

    After we got her buckled into the car I took a step back.  A surreal moment.  Saying good bye to the NICU.  Oh no, did I forget her? I could barely see her in that car seat underneath the blankets and hat.

Chloe and Aubrie had no idea that Sadie was finally coming home.  The excitement in their eyes when we walked in the door and they saw Sadie.  It was priceless.  They could not stop staring at her and touching her.  Even though they came to the hospital to meet her they didn't get to really touch and hold her.  It was attempted many times, but it was always chaotic and never really worked.  Either the nurses were protective of Sadie, or Sadie was screaming and didn't want to be held (even at that age she hated to be held), or the girls didn't have the attention span to sit and hold a baby.  It just never really worked very well.  So the night she came home they just couldn't get enough of her.

My first pic of all 3 sisters. Happy and together!

 

Chloe could have held Sadie forever that night.  Aubrie not so much, as evidence I have no picture of them together :( 

Love this pic of Chloe!  It makes me laugh every time.  She kept telling everyone "this is my baby"!  Oh, the love that beamed from that little girl.  Sadie was screaming in this pic and Aubrie hated (and still does) when Sadie cried and she would get upset too.

 

Two years ago.  One of the best nights of my entire life!



New Mito Dr and an MRI/MRS

   Over the summer we finally got to meet with Sadie's new neurologist/mito Dr.  I really liked her.  She listened to Sadie's whole story and asked a bazillion questions. She looked through ALL of her records with me so she could fully understand everything that Sadie has already gone through and everything that has been found so far, she looked at her MRI and listened to all the questions that I still have lingering in my mind.  At the end of the appointment this is what she had to say... she is 98% sure that Sadie has a mitochondrial disease.  Her lab work and her clinical presentation makes her believe this.  Finally!  Someone who is educated in mito disease, and doesn't second guess themselves and has enough confidence to say "yes, I truly believe that this is what she has".  What a relief, but it was also disappointing.  Mito is not a pretty disease, it is an extremly ugly, incurable disease.  There was a part of me that was hoping that she would say "no, I think it is her brain malformation that has caused all this and she does not have a mito disease".  What she is not sure of is what kind of mito disease it is or which came first, the mito disease or all the other issues.  The next part that she said SHOCKED me. After looking at her MRI she is not completely convinced that she has pontocerebellar hypoplasia (PCH) or pontine tegmental cap dysplasia (PTCD).  WHAT?!  Is this woman on crack?  Maybe I shouldn't believe her about the mito disease!  Just kidding, but as I picked my jaw up off the floor, she continued to tell me that Sadie's MRI is kind of crappy.  Sadie was only 3 days old and she had moved multiple times during the test.  So the images were blurry and not very well defined lines of her brain.  She said yes, it was obvious that there was malformations, but she's not sure if she agrees with the diagnosis.
  Ok, so where do we go from here?  These were all of her suggestions... 1. To get a new MRI of her brain while she is sedated so there is no movement and we will have clear lines and images.  2. To get an MRS (Magnetic Resonance Spectroscopy is used for measuring biochemical changes in the brain.  You can read more about it here if you want).  3. An exome sequencing test performed on her blood and 4. To add more vitamins to her mito cocktail.
  Like I said earlier, it was this summer that we met with this Dr.  To date we already accomplished number 3 and 4. The results for number 3 should be back no later then Christmas time.  And today we are accomplishing number 1 and 2.  As I am sitting her typing, Sadie is under general anesthesia having her MRI/MRS done.  They are also doing another BAER (hearing) test while she is asleep (not really sure why we are doing another hearing test, I guess to make sure she is still deaf  *whatever!*).  I should get the hearing test results today (who knows, maybe she had a miracle and she can now hear, stranger things have happened).  I'm not sure when I will get the MRI results.   I know my pediatrician will have the results in a week or so, but not sure she will give them to me.  We don't see the neurologist until January.  Not sure if she will give me the results over the phone.  I'm not even sure when she will even get the results.  She is part of a different medical group and associated with a completely different hospital, so who knows when she will receive a copy of the CD and the results.  Hopefully in the next couple of weeks we will hear something from someone.

***So I did get the hearing test results and can you believe they told me she is still deaf?  Crazy, huh?! Lol  The only thing they did tell me that is "newish" is that she has fluid build up in her middle ear in both ears.  The left ear is not that big of a surprise because during the summer she had to have the tube removed because is was clogged and had granulation tissue growing around it. It was just a matter of time before it started to bleed like her other ear did earlier in the year.  We had been watching it to see if we needed to put another tube in.  Apparently, she needs another tube in that ear.  Her right ear, however, still has it's tube and we have had no issues since the replacement of that tube.  So I'm a little surprised that that ear showed fluid.  I suppose we shall just wait and see what her ENT has to say and see if we will be replacing those tubes.
***Sadie was not happy waking up from anesthesia this time.  She was arching and screaming her kind of scream.  She was so uncomfortable.  She finally calmed down after about an hour.  We came home and she just kept fussing, moaning, and wanting to sleep but couldn't get comfortable.  It has been a long afternoon and evening so far.  Hopefully, she sleeps well tonight.
***The Anesthesiologist also told me something new.  He told me that Sadie's tonsils were pretty big and he had a hard time putting the tube down her throat and if I see blood in her mouth, that's why.  I asked her ENT last time I saw him if he could look at her tonsils because she snores so loud sometimes.  He barely looked in her mouth and stated they were not an issue and are not causing her apnea issues or her strider sounds.  Plus, it is rare to have issues with tonsils and adenoids this young.  I said "ok, if you say so".  The sleep study confirmed that is was central apnea, so I didn't argue.  But I have always (since she was a baby baby) thought in the back of my mind that she had throat or tonsil and adenoid issues.  I guess I will be talking soon to her ENT and see what she he has to say.

Introducing a pacifer?

 

   Most people are trying to wean their 2 year old from a pacifier, we are trying to get her to take a pacifier.  I know, a little strange and backwards (but isn't that the story of her life?).  Honestly, we are not having much luck with it, but we continue to try.  This is why.  Sadie loves to clench her jaw.  She clamps her jaw down so tight that there is no budging it. In fact, this smart mama stuck her finger in her mouth once looking at her teeth and that little girl clamped down so hard on my finger and wouldn't let go... she drew blood!  Not one of my brightest moments as a mom.  She has been like this since the day she was born.  No idea why she does it.  One theory is that it has to do with her sensory processing disorder.  Second theory is that it has to do with her muscle tone issues. Third theory is that it has to do with her neurological issues.  Honestly, it doesn't matter what theory we go with, the fact is that she clenches that jaw and we are trying to break her of that bad habit.  Our hope is that if we can get that pacifier in her mouth 1. it will break the habit of clenching cause she won't be able to with a hunk of plastic in her mouth and 2. give her something that she can turn to for comfort in uncomfortable situations (such as getting her blood drawn). and 3. it was strengthen her tongue muscle.  I'm not holding my breath that this will work, but ya never know and anything is worth a try.

2 year check up

   Last week we had Sadie's 2 yr check up.  We walked into the office and one of our favorite medical assistants were working.  She came out to the lobby to see Sadie (as she was working the front office and not the back and would not be taking us back to the room).  She was so surprised to see how big Sadie has grown.  As we were chatting, we figured out that we haven't been back in the office (at least not for Sadie) since she had been sick back in March.  That was a fantastic feeling.  7 months she has been healthy.  Let's just hope and pray our healthy streak lasts into the winter months.
   I was kind of excited for this visit.  Anyone can tell she has been growing and I wanted to know what her latest stats were.  I just knew she had to be close to getting rid of the "failure to thrive" diagnosis.  She went from 6 mo clothes to 18 mo clothes in a 7 month time frame. She has to have "graduated" from the diagnosis.
   Sadie is now 30 3/4 inches long and weighs 19 lbs 13 oz.  Her height is amazing, her weight... not so much.  I thought for sure she hit 20 lbs (I know it's only a couple ounces away, but every once counts when it comes to this child).  However, I'm not complaining.  At least she gained a little bit. Some is waaaayyyyy better then none (like I said every ounce counts).  At her 18 mo appt she weighed 18 lbs 7 oz. So she gained 1 lbs 6 oz.  I'll take it!  But her height!  At her 18 mo appt she was 28 inches long.  That is 2 3/4 inches that she grew!!  That is amazing.  That is the most she has ever grown in 6 months.  I was thrilled.  I was so proud of her.  I know that sounds silly to be proud of a child for growing, but that is what I felt.  Unfortunately, we did not get rid of the failure to thrive diagnosis because she is still in >3% of the population for height and weight.  However, on her own growth chart "that's one small step for weight, and one giant leap for height" (Sorry, Neil Armstrong's quote has been stuck in my head) and she is doing awesome.  It's amazing what being healthy can do for a child.
   After this fantastic news, the Dr started asking "is she doing this..., is she doing that..., how about this..., etc".  You know all the typical questions that Dr's ask at a well baby check up to see if your child is were they should be developmentally.  So as I was answering no, no, no.  I finally looked at the Dr and looked back at Sadie and said "look, we know she is not where she should be for 2 yrs old, BUT she can do this now, and this, and this, and she has a laugh and a smile that will melt your heart into a million pieces.  THIS is what she can do now.  This is way more then anyone expected, and most of all she is 2 yrs old now and that is WAY longer then what we were ever told to expect".   I leaned down kissed Sadie and said "isn't that right, pretty girl?" Just then Sadie let out a sweet giggle and her biggest smile ever.  I then laughed and looked up at the Dr.  The Dr had tears running down her face.  I didn't now what to do or say.  So I got up and gave her a tissue, which is so ironic since she is usually the one giving me a tissue.  We both kind of laughed.  She then said "I've never met a family or a child like Sadie.  I have learned more from you guys in the past 2 yrs then I have learned in all my years of being a Dr."  I said "Yep, it's all Sadie, she has a way of teaching many lessons without ever saying a word. I just deliver her messages verbally to those that can't hear her."  And again at the perfect moment Sadie gives a huge smile, and giggle.  My heart melted and I'm pretty sure the Dr's did too.
 

1000 Satin Hands!!

   People from all around the world (literally) are always so graciously asking me how they can help when it comes to Sadie. So my brother and sister in law have put together a fundraiser that can be world wide.  Please take a minute to read about the fundraiser, "like" her fundraising page on facebook, contact Mimi (my sister in law) if you are interested in buying anything or helping with the fundraiser by selling it, or I have info too! I have always appreciated all the love and support that everyone has always shown us. Sadie is a very lucky and loved little girl to have all of you in her corner. Now lets give Sadie a "1000 satin hands". Thank You!!!

  Because I copied and pasted this "flyer" you can not click on the links above.  However, you can click here for Mimi's facebook page OR here to go to the fundraising site on facebook OR you can even go here and go directly to her Mary Kay site OR you can just email or call her. 

Halloween 2013

Happy Halloween

 

 

Aubrie's pumpkin is on the left.  She worked hard on drawing the face and carving it.  She was not a big fan of scooping out the "guts" though.  Chloe's is the pumpkin on the right.  She concentrated and worked hard on making sharp teeth.  She was also obsessed with making "stitches and scars" on hers because it makes it "scarier looking".  Then Sadie's pumpkin is in the middle.  She had a little help from daddy. We tried to attempt to have her touch the "guts".  She was not having anything to do with that, but she enjoyed sitting with the girls and watching them work on their pumpkins.

 

 

Yes, that is daddy using a power saw to carve Sadie's pumpkin.  Carving pumpkins has never really been his favorite thing, but he will do anything for the girls.  However, since he discovered how easy and fast carving a pumpkin with a power tool can be, this might be a little less dreaded every year.  :)

 

My little striped kitten

 

   My sweet, little kitten.  I had no idea how a whole body costume on this child was going to work.  I figured I could get her in it, take a few quick pictures, and then she would probably get over heated and scream until I took her out of it.  I was wrong!  To my surprise, she enjoyed her costume.  She smiled and laughed and kicked her feet up and down over and over and over.  She made all of her happy sounds that she makes and rolled around on the floor. She sat so proudly in her chair just looking around, as if she were saying "look at me, I'm cute".  Sadie even tolerated the mittens/paws on her hands.  Yes, it was only for short increments of time, but it was multiple times.  And the fact that we actually got anything on her hands is HUGE!!  This little girl is just too stinking, cute!

 

My cowgirl fairy

the cute little back view

 

   Oh Aubrie, she may be the death of me.  For the last 2 months all she has talked about is being a superhero with a cape for Halloween. She has always loved wearing capes and "flying" around the house saving anything and everyone she possibly can (if you don't remember she got a cape and mask for her birthday).  I searched around until I found a cheap, gently used superwoman costume.  Hooray!  I finally found one after a month or so of searching.  I was so excited to show Aubrie.  Her reply, "I changed my mind.  I want to be a cowgirl."  My jaw dropped.  I thought "really, I try so hard to please this child, and all I get is I changed my mind".  Typical girl!  :)  Lucky for her, Chloe was a cowgirl for Halloween when she was 4 yrs old so we already had the costume. Perfect!  Cheap costume and I didn't have to search for this one.  However, as I was having Chloe try on her costume to make sure it was going to fit, Aubrie had this HUGE melt down because she wanted wings too.  Ooohhh NO! She was not changing her mind again.  To my surprise though, she was not changing her costume, but she wanted to add to it.  She wanted to be "the fairy that protects cowboys".  Again lucky for her (and me) we had wings from an old costume.  That is the story of how a cowgirl fairy was born.

 

My blue belle fairy

 

  Chloe couldn't really make up her mind on what she wanted to dress up as for Halloween.  I think she changed her mind a million times.  As I was pulling out past years costumes from the Halloween box for a friend of mine Chloe yanked Aubrie's costume from last year out and said that she wanted to be a blue belle fairy.  I replied "perfect".  That way I didn't have to go buy a new one, or make one, or stress out shopping for the "perfect costume".  Cheep, great costume!  I have to say she is an adorable, toothless, sassy fairy.

 

Even though it was a little chilly and had a misty rain all night, Chloe and Aubrie had a lot of fun going trick or treating with their cousins.  However, they both woke up today with a terrible cough and cold.  Welcome, to the "sick season"!