Different.

Inspired by the video of the little boy who was born without eyes, I have been really thinking and preparing myself for someone to ask me what is wrong with Adriana. Whether it be because she looks different or because she is showing off her button chewing her shirt. We have had a few incidence with her color changing, her legs were purple as I was wearing her and a lady stopped me and told me, I was glad she did for a normal baby it would be an issue but for Adriana purple is ok on her limbs. I explained what was wrong and she just looked at me like I was clueless and proceeded to tell me her grandbaby had to go to the ER for circulation being cut off due to being wore. I thanked her and walked away, it irked the crap out of me that she blew off what I said and acted like I didn't know what I was talking about. Mother knows best 99% of the time, I figure its because I look 16 that she gave the impression this lady doesn't have a clue. Any ways, I really didn't think people could be so cruel and do that until a few moms on the Noonan syndrome page brought it up and then the video. Kids I can see, there kids and curious. Emma doesn't see anyone really different, she is shy but she isn't going to just say momma what is wrong with that kid? Maybe because Adriana? I'm not really for sure. We have a family friend who has a son with downs, she acted shy, he is older but she played ball as did TL neither really acted like anything was different. Before Adriana I always thought that kid in Wal-Mart screaming his/her head off was just being a brat or needed there butt spanked, after being at therapy and seeing all the different kids with different things going on I realized maybe that kid screaming got touched by something different, or maybe the weather is really bothering them. There are so many things that it could be. Adriana has a touch of what we are thinking is sensory issues, which we are working on but it takes time and there will be off days (everyone has off days were human). The whole point in me writing this is, before you judge tell yourself maybe this kid is having an off day, yes there are some cases were the kid just needs a spankin'. A smile will go a long way! :)

Adriana's syndrome

Most kids with noonans have PTPN11 mutation, Adriana has CBL gene. She actually has Noonan like syndrome. Her type is really rare.

More about Adriana!

A few weeks ago we went to Little Rock to meet with the genetisis. We learned more about her Noonan Sydrome. Turns out she doesnt have Noonan Sydrome she has Noonan like sydrome. Basically her one little messed up chromosome is different than what is seen in more Noonan Syndrome kids/babys. Hers is a Lukemia Noonan Sydrome. The oldest child with it (that has been known) is 12. Many have had lukemia, many have not.
 We still dont know where it came from. We will prob do testing on me and TJ later in life (its a pretty costly test) to see if it is in our genes or if its a random thing.
 Back to her, she has a high chance of getting Lukemia than your average kid. How high of a percentage, we dont know just yet. Down sydrome kids have a 1.??% where normal kids are like .1% (something like that). I asked a million questions and the only thing she could tell me was its in testing. They dont know really anything besides which chromosome is messed up and she has Noonan like sydrome. It is scary. They can do blood test to check her white blood count but there isnt a need Lukemia grows VERRRRYYYYY fast. We just have to watch for the signs and go in RIGHT then! Since leaving childrens in may she has been a healthy baby girl!

Best baby ever!

Before her button

She pulled several tubes out threw her nose and mouth! Shes quiet the tube puller outter! :)

Our experience with chyl

Chest tubes don't always help, in Adriana's case they were a good temporary fix but not long term. After weeks of fighting it the drs finally suggested we just let her body do its thing. As long as she was stable we leave her alone! Special diet and watch it. That was the best thing we could of done! It's been 3 months and her chyl is about gone! It may not work in all cases but it helped my sweet girl a ton! Who knows where we would be if we had of pushed for another chest tube like we were!

Noonan sydrome

Never hurd of it huh?!

Text book deffinition: Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in various ways: unusual facial characteristics, short stature, heart defects, other physical problems and possibly lower intelligence. Noonan syndrome is caused by a genetic mutation and is acquired when a fetus inherits a copy of an affected gene from a parent (dominant inheritance). It can also occur as a spontaneous mutation, meaning there's no family history involved.There's no specific treatment for Noonan syndrome. Management focuses on controlling the disease's symptoms and complications. Growth hormone may be used to treat short stature in some people with Noonan syndrome.

Adriana has a rare type, its only been know about for 7/8 years. Its a cancer noonan, it doesnt mean she will have cancer but that is what it is called. The kids/teens that have that type are normal noonan kids. They just have those wacky chromozomes. We have no clue were she got it but there are tests being done to see where she got it or what caused it. Alot of the things that are wrong with Adriana are caused by noonan sydrome. She also has alot of the features of a noonan sydrome baby!

As of right now me and TJ have decided to not put her threw any growth hormones at all. She is perfect just the way GOD will make her. Unless it is 100% medically needed after our research and drs proof.