Brielle the Busy Rabbit!

Happy Easter!! 

2015 is not ready for Bri!

Brielle got her rifton walker a couple days before Christmas! We had a goal that she would take a few steps before the New Year! She did it! Woot woot! Just yesterday sick and all, she actually walked many steps in her walker! So proud of my girl, she truly amazes me every day!

Here’s the video of her and her sisters cheering her on. 

Bella tends to motivate her like a puppy :)

To the left, to the left! Brielle’s surgery was a huge success!

The procedure took about an hour. (only reason it was so long is because of the Auditory Brain stem Response test.) When I walked into Post Op, I couldn’t believe she looked so good! She usually doesn’t do well after anesthesia. One of the reasons we were asked to prepare to stay the night, because we just don’t know what the sedation will do to her. Before the procedure I spoke to the anesthesiologist, and requested for him to do the most minimum sedation possible. This anesthesiologist did an amazing job; they didn’t even put an IV in her! If you have an I-cell child… this is music to your ears! These kiddos have very thick skin... I mean that literally! Their skin keeps thickening through time because of the storage in the cells. Last IV she had put in they popped 4 veins before they can get one going. 

She said “mama” as soon as I walked in and was trying to tell me something. She looked drowsy and was floppy but content. (She’s usually screaming, nauseous, very uncomfortable, and needs to be medicated and hooked on machines until she feels better.) As soon as I held her in my arms, I noticed she was very observant; she was taking everything in. She kept talking (in her little language of course); she was listening to herself. It was an amazing feeling to see her discover new sounds and noises. 

In the waiting room before going in to see her, the surgeon came to give me the results. Bad news, she is completely deaf from her right ear. He thinks the disease has damaged her inner ear with the storage in the cells. (Ugh..these stupid storing cells!) THE GREAT NEWS is she should have full activity in her LEFT EAR! Woot! Woot! I just can’t wait for all the things she is going to start saying. We thought she was spunky before, wait until she can say her words clearly and add more to her vocabulary!!

When we got home she was a little more coherent, I wanted her to rest so I put her down for a nap. Ya... That didn’t last long; I was having a kick from all the yapping she had going on in her crib. She is known to have intense conversations with her stuffed animals, but today was REAL talk! Like “listen here, I run this crib” kinda talk!

I am so excited for her, one day in and her speech has already improved so much! I can’t even imagine what I’ll be hearing from her tomorrow.

Thank You Jesus and thank you all for always keeping Bri in your prayers!  

break time

I sometimes tell myself I need a break from my I-cell support group…

This week we lost two little ones. Eryka Barre & Wynnie Johnson. Eryka made it to 4 years of age and Wynnie to 6 years of age. I will not go into details on how they left this world. Only thing I can say I-Cell disease is responsible.  

I must admit, I am an emotional wreck every time I hear the news of one of our kids leaving us. Crazy thing, I have never met any of these kiddos in person. The only connection I have to their world is their parents/grandparents that share stories and pictures on our support group online etc. Before meeting these families on the support group, I went on a Google stalking spree; I wanted to learn every little bit about Brielle’s disease. 

A text book can only give me statistics and scientific research. I was already aware of that information when I spoke to the doctors. I wanted to know THE LIFE of a child with I-CELL disease. Through my Google searches I found a blog about an I-Cell baby girl Gabrielle Ross (who had already left this world when I found her blog). After Gabby’s blog I found Dorian & Wynnie’s blog (twin brothers with I-CELL) … found many more  after those.

I’ve never had an online relationship with anyone, but I can tell you that I definitely have one with my I-CELL family. 

Why is my hurt so deep when we lose a child?... My mom has told me, “maybe you shouldn’t spend so much time connecting with your group, it can’t be healthy for you”. I know what she means, she knows I hurt every time I tell her a story of one of our kids being in the hospital or leaving us. 

Why? 

… because I know the feeling of losing a child. So I grieve with every parent. I grieve their loss and grieve Jaileen’s loss and as terrible as it sounds; I start grieving for Brielle. 

… because of that moment when you have to say Goodbye or See ya later, and you are left with empty arms.

… because I know I will relive this terrible nightmare all over again one day.

… because I am living this journey with them and slowly my daughter is declining just like them.

… because I see how this disease has no mercy, it takes them all one by one.

… because there is not one thing any of us can do about it.

So yes, maybe sometimes I ask myself, why I keep putting myself through this emotional roller coaster?

Truth is because even though those bad moments are BAD… Let me tell you that the good moments are GOOD!!

… when we share our children’s accomplishments

… when we get a glimpse of their unique personalities

… when we see how they all resemble each other in their own special way

… when we learn from the parents that have been there

… when they are happy and joyful; which is almost always

… when they are beating the odds

… when they pull through & believe me.. these kids pull through!

For as tiny, limited and fragile these kids are.. boy, are they strong, courageous, and determined to fight! I’ve had my share of kids, and been around many. I can honestly say these kids are the happiest babies. 

Sometimes, I think people feel bad for us… Don’t! We have a happy life… I cannot tell you how much joy a child this special brings to this world. For anyone that has ever met Brielle, I don’t need to say it. She brings beauty out of every person she encounters. Strangers are drawn to her. I share her life for everyone to see the beauty that she is. Not for sympathy. This little one makes everyday brighter.

Life is good, but heaven sounds so much sweeter!

Fly high Eryka and Wynnie.

http://dorianandwynn.blogspot.com/

What is Mucolipidosis?

Going through Brielle’s blog, I recognized after her official diagnosis I was so consumed trying to grasp what this disease was going to do to my baby and trying to figure out how I was going to help her live with it; I never gave sufficient information about her disease.

I am far from a scientist; being able to break it down for you is out of my reach. Here is some information I gathered. My next few posts will be about the disease and how it is affecting Brielle. This disease affects each child differently, but very similar for the most part.

The mucolipidosis (ML) are a group of inherited metabolic diseases that affect the body’s ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells. Because our cells are not able to handle such large amounts of these substances, damage to the cells occurs, causing symptoms that range from mild learning disabilities to severe mental retardation and skeletal deformities.

The MLs are classified as lysosomal storage diseases because they involve increased storage of substances in the lysosomes, which are specialized sac-like components within most cells. Lysosomes play a critical role in the metabolic function of our bodies. One of their primary roles is to pick up substances such as carbohydrates and lipids and break them down into smaller molecules so that they can be used again in the metabolic process. This process is possible because lysosomes contain enzymes, which are proteins that help the body’s chemistry work better and faster. Working continuously, enzymes break down carbohydrates and lipids and assist in the transfer of their byproducts throughout the rest of the cell for the production of energy or excretion.

Patients with ML are born with a genetic defect in which their bodies either do not produce enough enzymes or, in some instances, produce ineffective forms of enzymes. Without functioning enzymes, which are proteins, lysosomes cannot break down carbohydrates and lipids and transport them to their normal destination. The molecules then accumulate in the cells of various tissues in the body, leading to damage of organs. In patients with ML, the molecules accumulate in nerve, liver, and muscle tissue as well as in bone marrow, and this abnormal storage causes the various symptoms associated with ML. For example, excess storage of these molecules in nerve tissues can cause mental retardation, accumulation in the tissues of the spleen and liver can cause poor functioning of these vital organs, and excess storage in the bone marrow can damage bones, leading to skeletal deformities.

ML II is also referred to as inclusion-cell (I-cell) disease because waste products, thought to include carbohydrates, lipids, and proteins, accumulate into masses known as inclusion bodies. When tissues are examined under a microscope, the detection of inclusion bodies often provides a diagnosis of the disease.

http://www.ninds.nih.gov/disorders/mucolipidoses/detail_mucolipidoses.htm