Finally, Some Answers

First off, let me say thank you. Thank you from the bottom of my heart to each of you that have asked how Marlee is doing, how we are doing and how I am doing. Thank you for letting us know that she and us have been in your continual prayers. I have been so blessed by ALL of the support, especially from those people that I wouldn't have expected. It's been amazing to me to realize who truly cares and loves you when you are going through a storm.

To give you an update, I was beginning to wonder about Marlee's blood work from May 24th after her MRI. I had not heard anything and was beginning to think that I needed to call the neurologists, but when I got home from work this past Tuesday, he had left a message for us to call him back. After playing phone tag, I finally had him on the phone.

We said our "Hey's" and "How are you's" and I could tell in his voice that I was not going to hear what I wanted to hear. My heart and mind were racing and I was so nervous to hear what he had to say. What I wanted to hear was, "Amanda, Marlee's blood work came back fine and normal" but what I heard instead was "Amanda, we have gotten Marlee's blood work back and there are some concerning issues."

Our conversation in a nutshell was that Marlee had two chromosomes come back that were abnormal. He gave me each of the specific chromosome names but to easily explain it, she has abnormalities in the chromosome 17 and chromosome 22.

The chromosome 17, not much information out there in google~land, but he said it was an uncertain significance.  Basically the test couldn't see what the abnormality was but that the chromosome was different. The test recognized that there is something different about it.

The main area of concern is the chromosome 22. This is a rare abnormality. He said that Marlee has DiGeorge Syndrome. You can go here to read more about it.

From what I researched this week, each person has 2 sets of chromosome 22, one set from your mom and the other set from your dad. Each chromosome is made up of 500-800 genes. DiGeorge Syndrome is a deletion in one segment of the genes.

When I was reading the symptoms of DiGeorge Syndrome, I realized Marlee had definitely exhibited some of those symptoms. I remember saying to myself, "It's starting to make so much sense now".

I will tell you that DiGeorge Syndrome has a type of spectrum like autism does. Some of the major symptoms are a cleft palette and major heart defects. Marlee does not have those, so she might be considered to be on the lower end of the spectrum. She does have a problem with her subclavian artery (read previous post to learn more) but we won't know if there is anything else going on until we see a pediatric cardiologists.

As of right now, Marlee has to see her pediatrician, a pediatric geneticists, immunologists and a cardiologists, plus have major lab work done before her surgery on July 8th. All of those appointments are scheduled for this upcoming week.

I am assuming the geneticists will tell us more about the abnormalities in the chromosomes and if this was inherited or a sporadic event and also the severity of it. The immunologists will tell us if there is any problems with her immune system and the cardiologists will be looking at her heart. I know some of the lab work is also looking at how her immune system functions.   

I would encourage you to read the link I provided so you will know how to specifically pray. You will read about the challenges she might possibly face in the future, the numerous visits to different specialists she will most likely have to see and so on.

I'm not sure how I feel about all of this yet, as if I have a choice. But I will tell you that God is showing me how much He truly is in control of my little sunshine's life. From her conception (soooo not planned) to her prolapsed cord and emergency c-section (definitely not planned) to what all is going on now. He is in total control and has a very specific reason and purpose for her precious little life. Her sweet smile always lights up my heart even on the hard days. I truly am so blessed to be her mom.

Please continue to keep us in your prayers as we travel this journey in finding out what is wrong with our baby girl. I can feel them and appreciate them so very much!

In other news, Congratulations to my sister and brother in law on the birth of my first nephew, Caleb Jackson (CJ).  He is so adorable!

Trying out the pool!

Playing peek~a~boo after bath time. :)

 Loving on my new nephew!

 Cousins!

 Trying out my new "baby"suit! ;-)

"What is this thing on my head momma?"

Ain't nobody takin' my toes!!

 6 months old!!

Awww! And yes, that is how I found her....toes peeking out!

Trying rice cereal for the first time! This little stinker started pressing her lips together and wouldn't open her mouth. HAHA!

Matthew and Michael went to football camp a few weeks ago and loved it! Matthew won the "Best Pass" award for his age group on the first day!

Getting some CJ love!

 

Again, thanks for reading and praying for our family! :)