What we haven't told people...

Dear Annie,

This past month your dad and I haven't really explained fully to people what exactly is going on with you. A lot of people just think that you were two months early and a premature baby. But Annie, as hard as it is for me to publicly tell people has been hard. But as your dad and I spoke last night driving home from the Hospital, we asked ourselves, "Why hide what we're going through? Why hide you?!" You are perfect in our eyes and are SO special! So... Here it is.

Annie, when you were born, you came out blue. You weren't breathing at all. The doctors rushed you quickly into another room where they could entubate you. You were a very difficult entubation because your airway was so small. As the doctors starting examining you, they realized that you had many muscle contractions through your hands, arms, feet and legs. They also saw that your jaw was set back further than normal and your mouth was smaller. They began to diagnose you with a syndrome called "Freeman Sheldon Syndrome" (http://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome). When we started researching about it, it definitely described you but we still needed to do some genetic testing to get a full diagnosis. Well, a couple of weeks ago, they came back with it being negative which was a little hard to hear because we knew that you having that syndrome, it wasn't anything to do with mine or your dad's genes, and if it did, only one of us carried that gene. So knowing that it came back negative scared us to thinking it could be something else and we wouldn't be able to have anymore children. The decided to do a skeletal survey on you where they check all of your bones, etc. They also sent in another genetic test for Freeman Sheldon and it also came back negative. We knew we were back to an empty board. Until last night...

Last night when we came to visit you, we met a neurology/muscular doctor. She did an EMG test on you which is a test in your muscles. Ever since you were born, you have been doing these rhythmic movements that have been quite questionable to everyone; including Doctors who have worked for many years. As they thought they were seizures, it has already been confirmed through testing and medicine that they are not. But after you do those motions, you tense up and stop breathing, turn purple and your oxygen goes down very low. After you begin to relax, you start breathing very heavy to make up for the time you weren't breathing. This is why it is SO important for you to have a breathing tube because when you have these episodes (which you have very often, about 7-10 times per hour).

So this EMG test was going to help see what your muscles do when you have these episodes. The doctor told us what she thought and what would change a lot of things. She told us that she was most certain the syndrome you have is called "Shwartz-Jampel Syndrome type 2" or "Stuve Wiedemann Syndrome" (http://rarediseases.info.nih.gov/gard/5045/stuve-wiedemann-syndrome/resources/1). It too has many of the physical features Freeman Sheldon has: Contracted hands, arms, feet, and legs, and certain facial features. The difference about this syndrome, is that it is more of a muscular disorder which causes the muscles to tense up for no reason (which is what you do). This can be very scary because if you aren't on a ventilator when you have those episodes, you probably wouldn't survive.

The problem with this syndrome though, is it means your daddy and I both carry the same gene that is carried in Shwartz-Jampel. This means that your daddy and I... We probably won't be able to have anymore kids. Now, this doesn't mean that you will be an only child sweetheart! It just means we will have to adopt! It definitely is something that your dad and I NEVER thought would happen and it saddens our hearts so much thinking we can't create anymore beautiful children like you! But off course, we will love WHOEVER is our child. If he/she is from Africa, Asia, America, etc. We will LOVE them just as much as we love you! And Annie, your dad and I are SO grateful for you! I am so grateful and blessed that Heavenly Father trusted your dad and I so much that he would have sent someone as special as you to us! We are so so lucky and blessed to have you!

Annie, you are amazing. You are perfect. And even though there are many times when things are hard, I think to myself, "Heavenly Father knows what he is doing!" And it's true, he will never lead us astray sweetheart! He will ALWAYS be with us! We just have to have Faith and Hope in all things! I am so glad your dad and I had you! You have been the example SO many people have needed in their lives. You are changing so many peoples' lives. You are such a strong daughter of God. And as you will go through many struggles, I know you will always be strong, steadfast and immovable.

Today they made new splints for your hands to help open them. The doctor talked to me today and said they will be planning on sometime next week to put a trach in. They have to be very careful with putting you under anesthesia though, because with Shwartz-Jampel, going under anesthesia could cause death because of your muscles not responding to it. But as long as they know that, they can make sure they give you the correct type. It still scares me a ton and I know that day next week, I will be a wreck. Tomorrow, I am meeting to talk with a neurologist more about this syndrome they're thinking it is. They're going to be sending in a genetics test and speak to doctors in Germany because they're more familiar with this syndrome there.

Annie, it may not be Shwarts-Jampel. Everyday is a new day. But your dad and I don't want to hold anything back anymore. We want to share your story with everyone. We want people to hear what an amazing little baby you are! We want people to know what your dad and I are going through. We want to be able to uplift people. But mostly, we just want you to be okay. We want you to grow up happy, healthy and have a normal life. And I know all of those things are possible if it is the Lords will. I love you sweetie with ALL of my heart! I cannot wait for you to be home and your dad and I can raise you and be parents to you! We love you so so soooo much! I hope you sleep well tonight Annie. I love you.

Love,

Mommy

Um... I'm a little obsessed with the OUTFITS they're putting on you now!

With your favorite... Daddy :)

Changing your diaper! :)

Oh how much I love you..!

AH! I can't get enough!

Just comfy cozy:)

Your starting to get RED HAIR like your daddy! :)