Living with Lissencephaly....One Year Since Diagnosis

On March 25, 2015 (at 5 days old) Emma was diagnosed with Lissencephaly and its been quite the year full of ups and downs. Lots of learning has taken place in the last year but our "teacher" (Emma) is amazing and her smile guides us through it every day. On Emma's facebook page I posted this on her DD (diagnosis day):

What a difference a year makes! 

One year ago was diagnosis day. I will never forget the empty dark feeling as the Drs came into the room to share their findings after the MRI. I only heard a handful of words the words that stuck out most in my mind was severely developmentally delayed.....my mind went blank and the room was spinning faster than I could even imagine. The word lissencephaly was not even close to being in my vocabulary. I could do nothing but cry, cry and cry some more. My heart broke for us as parents wondering how would be good enough to take care of her and give Ava what she needs. Then my pain shifted to Ava she was so excited to have a sister to play with and chase around. What do we tell her? How do we do this? What next? Sadly no one had answers for us. Every question we asked the answer was we don't know it's s big spectrum. We were basically told to go home and love her. So that's what we did. We loved, loved and loved some more. Did I mention this girl is LOVED!!! One year later still not too many answers we live our "new normal" take things day by day and watch our girls play in their very own special way. Such a special bond Ava and Emma have. So blessed to be her parents. This is a hard day but it was the beginning to a new world with an amazing tour guide. We love you Emma! 

Over the last year Emma has made progressions that we thought would never be possible. With her diagnosis they say that she most likely won't develop much past 3-5 months of age here is a sample chart of what a "typical" child can do at about that age:

4 MONTH MILESTONES OF "TYPICAL" CHILD:

Social and Emotional (EMMA IS A PRO IN THIS AREA)

• Smiles spontaneously, especially at people
• Likes to play with people and might cry when playing stops
• Copies some movements and facial expressions, like smiling or frowning

Language/Communication (EMMA DOES ALL OF THESE TOO)

• Begins to babble
• Babbles with expression and copies sounds he hears
• Cries in different ways to show hunger, pain, or being tired

Cognitive (learning, thinking, problem-solving)

• Lets you know if she is happy or sad (YEP)
• Responds to affection (YEP)
• Reaches for toy with one hand (STILL WORKING HARD - HAPPENS SOMETIMES)
• Uses hands and eyes together, such as seeing a toy and reaching for it (HAS HAPPENED A HANDFUL OF TIMES)
• Follows moving things with eyes from side to side (ALL THE TIME)
• Watches faces closely (LOVES LOVES FACES COULD WATCH AND FOLLOW YOU ALL DAY)
• Recognizes familiar people and things at a distance (100% RECOGNIZES FACES)

6 MONTH MILESTONES OF "TYPICAL" CHILD:

Social and Emotional: (LOVES ALL OF THESE -still wonders about the mirror stares sometimes but mostly looks at me not herself)

• Knows familiar faces and begins to know if someone is a stranger
• Likes to play with others, especially parents
• Responds to other people’s emotions and often seems happy
• Likes to look at self in a mirror 

Language/Communication (YEP-SEE VIDEO BELOW)

• Responds to sounds by making sounds
• Strings vowels together when babbling (“ah,” “eh,” “oh”) and likes taking turns with parent while making sounds
• Responds to own name
• Makes sounds to show joy and displeasure
• Begins to say consonant sounds (jabbering with “m,” “b”)

Cognitive (learning, thinking, problem-solving)

• Looks around at things nearby (YES)
• Brings things to mouth (HANDS AND PUSHES BINKY IN IF FALLS OUT BUT CAN PICK IT UP TO BUT IN HERSELF)
• Shows curiosity about things and tries to get things that are out of reach (NO UNLESS ITS A PERSON)
• Begins to pass things from one hand to the other (WORKING HARD THIS IS A GOAL IN OT AND VISION THERAPY)

Movement/Physical Development

• Rolls over in both directions (front to back, back to front) (ONLY CAN GO FROM BELLY TO BACK)
• Begins to sit without support (YES BUT FOR A MINUTE OR TWO AT A TIME)
• When standing, supports weight on legs and might bounce (NO)
• Rocks back and forth, sometimes crawling backward before moving forward (CAN STAY ON HANDS AND KNEES SLIGHTLY SUPPORTED FOR 8-10 MINUTES AT A TIME)

 When I look at all these milestones I feel pretty amazing about where Emma is falling right now. She has worked so hard to get where she is now. Most one year olds don't really have to work to get these milestones they just come as they develop but for Emma it took hours, day, weeks and sometimes months for her to achieve some of these goals. She makes us so proud everyday and we are so happy she chose us!

I have so many things to share on this post so sorry if it's a little overwhelming but I don't want to forget to document anything!

As a parent when you are told that your 5 day old probably won't ever do anything you imagined she would the whole world becomes dark and gloomy. So these moments I am going to share with you are huge for Emma and Huge for mommy and daddy. I love hearing her giggle and talk something we were told most likely would never happen! Here are also some resent pictures:

Hanging by the pool - We love Easter Vacation - Spring Break

Vacation was over and she did not like pool therapy when we got home LOL

Two Beautiful Girls on Easter Sunday - notice she is sitting up unassisted :)

Emma finally got to swing yay!!!! SO FUN!

THIS IS AWESOME MOM AND DAD! 

Therapy practicing hands and knees to crawl

These two ride in the car every time just like this.
We always wondered why Emma likes to use her left hand but I think now I know ;)

National Sibling Day and Carters clothing shared a pic of guess who..... MY GIRLS!!!

Here are some videos worth sharing!!! These are huge memories for our family! Remember to EMBRACE LIFE and make every moment count! Big sister really also wanted to share a video too! She's been working hard in dance here is something her and daddy have been working on!

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Thanks for following and learning about out beautiful Emma and Lissencephaly. Remember Emma also has a Facebook page and an Instagram, don't forget to follow them for the most recent updates and inchstones :) We also love comments and people reaching out to us to either share their story or to ask questions. You can reach out to us either through a private message on Emma's Facebook page or you can email us at, embracelifeemma@gmail.com

Facebook Link: https://www.facebook.com/Embracelifeemma/

Instagram Name: embrace_life_emma

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