May 29, 2015

Sitting again

Since little Miss Sadie is uping her own game and practicing sitting so pretty, her teacher sent home a new chair for her to use this summer.  It is "just her size".  Perfect for her short little legs, arm rests just in case she decides to tumble to the side, and a pummel so she can't scootch her booty forward. She is sitting so tall and perfect with her feet on the ground.

Huge milestone for her right here. 1. just the sitting so nicely, 2. using her hands to put pressure on her legs to help with balance.  HUGE for her!

She was sitting tall even without her hands pushing on her legs.

She started laughing at who even knows what.  Was so full of giggles and so happy.  She does this a lot when she accomplishes thing.  It's like her way of being proud of herself.  Love that smile and giggle.

But don't worry, she got all serious again when she brought her arms down and accidentally touched that pummel with her hand. Heaven forbid!  She touched something and then quickly held her arm so she wouldn't touch anything again. LOL  Will she ever get over this fear or sensory issue or whatever you want to call it?!

But ya know what? It's OK!  One milestone at a time.  That's the way she rolls!

Aubrie's kindergarten celebration

Unreal that this school year went by so fast.  Aubrie is finished with kindergarten.  She has grown up so much this year, and  is reading and writing like a champ. She is becoming such an amazing and funny little girl. Her Kindergarten teacher always gives out awards. When Chloe was in kindergarten (same teacher) she got the great friend award.  Aubrie, as you can see, got the great character award.  She was so proud of her award and was telling everybody about it.  But I have to tell you a funny story behind it.  As we all know, character stands for personality, but to Aubrie character stands for people or animals in a book (which is what they learned to kindergarten).  However, I didn't realize this at the time.  So that evening as we were reading books she starts reading the characters parts in different voices.  I said "wow, Aubrie that is really good".  She said "that is why I got the great character award cause I can make different character voices".  My heart melted cause that is the innocence of a 5 yr olds mind.  I explained that she was correct AND that it also meant that she had a funny, sweet, energetic, sassy personality.  I love this little girl!

May 22, 2015

The Sleep Dr

  If you recall from my previous posts from the beginning of the year, Sadie was having some pretty weird episodes of being unresponsive.  From there we tested her hormones, and then we tested for seizures, and then from there we checked her sleep apnea for any changes.  What did we figure out? Absolutely nothing!  Luckily, Sadie has not had anymore of these episodes. Thank the Lord.  I really would like to know what these episodes were, but I must (at least at this point in her life) accept the fact that its just another "Sadieism", which means it's something unique just to her that she does that is unexplainable.
  However, we did finally actually meet with the sleep Dr just to see what he had to say about the results, which honestly wasn't very much.  He just explained that she has an extreme amount of breathing pauses but her body handles them wonderfully. Which means her heart rate does not drop and her other organs are not being effected (old news) and that she should use a nasal cannula with oxygen at this time (also old news).  He said that she is going into all the stages of sleep, although they are shorter stages then the "typical" toddler.  But he would consider her to have adequate amount of sleep and that he does not think that it was a lack of sleep that caused her unresponsive states.
  I asked about getting her an apnea monitor for at home and he said in all reality because of how much she moves at night that the monitor would not be very accurate and would actually cause less sleep for all parties involved as it would be alarming all the time and it would keep us up and her because we would have to keep fixing it.  Usually they are only used on infants.  He said that if I really wanted to monitor her at home, just to use her continuous pulse ox and that will alarm if she stops breathing because her heart and oxygen levels will drop.  So, no new monitor at home.
  Whats the plan?  To continue what we are doing and repeat a sleep study in a year (or before if she has new issues).  And then repeat again a year after that and so on.  This will give us a baseline of how her body is handling the carbon dioxide level and if its getting worse then we know that we need to do a new intervention.  Which would probably be a c-pap machine and possibly meds?  Not sure. Hopefully, we will never have to do anything else besides a nasal cannula.

May 16, 2015

Dance recital 2015

Chloe took jazz classes this year.  She loved it!  In the past she took tap/ballet combo class and she was not a fan of that and said she would never dance again. So happy she changed her mind.  She did a really good job. She may not be ready for Dancing with the Stars yet, but maybe in a few years. LOL  :)

Love this very natural, laughing smile that she has.
She is beautiful! (I may be a little bias)

This picture cracks me up.  This is her "your embarrassing mom", "you're so not cool, mom",  "I'm really irritated" look that she gives me all the time.  In this case, it was because the recital was sooo long and she was hungry and extremely tired by the time that the whole thing was said and done.  Must love 7 year olds!

May 15, 2015

Checking those bones

  We had a check up with the orthopedic Dr today.  We only see him once a year.  It's just to keep an eye on her back to make sure she is not developing scoliosis or kyphosis as she is more at risk for these two spine issues.  Its also to keep an eye on her leg length difference.

  They took some x rays and luckily her spine is looking good and there is no bend in any direction. Thank the Lord!  Treatment for those issues are not pretty.  I'm not sure her body would be able to handle the surgery required for these. We are hoping and praying that she never develops these.

Pictures collection of the medical condition Kyphosis…

   The Dr also took an x ray of her hips and legs.  He stated that both her femur and her tib/fib on the right are equally short.  He said sometimes it is one or the other, but not in her case and that is what he would expect to find when it is a congenital issue.  He measured her right side to be 1.25 cm shorter then the left.  He said that this wasn't that big of a difference and no intervention needs to be done at this time.  When she ever starts to walk then we can consider a lift in her shoe for the right side. If the difference ever hits greater then an inch or two then we can consider a surgery that stunts the growth of her longer leg until her shorter one catches up.  Honestly, I can't ever imagine us doing that surgery for her, but at least he gave me a heads up about it. Better to know about it then be blindsided.
  Overall, it was another good Dr's visit.

May 10, 2015

Amazing gift

Happy Mothers Day to me.  For the first time ever Sadie sat in the front of a shopping cart without the help of her go to-seat. She sat there our whole shopping trip (which was about 10 min or so), with no wobbling. Her neck was a little bit weak and she had a little hard time keeping her chin up (hence that is why she looks like she is slouching), but she was trying soooo hard and never once complained. She is a very determined child that fights and tries so hard.  The lessons she teaches me with no words are more valuable then the ones I learn with words.  I can't help but admire her. I'm so proud of her!

May 09, 2015

CdLS Kids

   People ask me all the time, "what is Cornelia de Lange Syndrome".  I give the text book explanation "they have cognitive and physical disabilities, similar facial features, non verbal, eating difficulties, etc... blah, blah, blah". Same old, same old over and over. Not that I mind explaining it to people because I love educating people about my daughter and about CdLS.  The more people that know about it, the better off our society is.  However, there is so much more to these tiny, mighty kids then just the text book explanation.  A mom in one of my support groups wrote it perfect.

CdLS Kids
Persons with CdLS are possessors of great strength. Fighters despite all odds; despite pain and illnesses and frustrations most of us can only imagine.

They are grabbers of hearts. The mischievous twinkle of their eyes impish grins, and throaty, infectious laughter – all guaranteed to win you over. Their keen sense of humor and love of teasing never fail to delight. While sensory issues often prevent overt shows of affection, it makes the rare hugs and kisses seem all the more precious.

They are lovers of mirrors and lights, music and movement – often spinning and dancing to their own inner rhythms.

They are collectors of treasure – shoes, hair bands, utensils and all manner of odds and ends. Safekeeping in backpacks and boxes, keeping them close to heart and hand. They are organizers and sorters; lovers of schedules and order, calmness and quiet.

They are attentive observers; watching the world through sidelong glances, taking it all in without appearing to…only to surprise you later with what they know. Nothing is missed! The most minute details, the mechanics, the “how to” of things are a source of fascination and humor. A puzzle or widget will intrigue, while a sudden flick of a finger or toe can bring gales of laughter.

They are clever and adaptive; problem solvers. If conventional won’t work, then unconventional is just fine, thank you! Despite difficulty with or inability to speak, they find ways to communicate whether through sign, gestures, sounds, touch, or simply a look. They possess a wisdom that is often belied by this lack of speech. However, one need only look into their eyes to realize the depths of their souls.

They are curious and mischievous; quirky and unpredictable. They can simultaneously drive you mad, break your heart, and evoke depths of love you didn’t realize you had. They’ll steal your heart…right along with your eyeglasses! Collectors of treasures, holders of miracles grabbers of hearts. To know a person with CdLS is to be touched by love.

By: Sandi Guevara

And that is what Sadie is all about!

CdLS Awareness Day

Tammi VanderWal's photo.