Episodic Ataxia Type 2 test results

So we finally got the results back from Natalie's blood test. Its only been since September :) The test came up negative for the mutation. BUT her Dr did some research and he found out that 50% of people with this mutation have the same result. It doesn't show up in the test. He still feels like this is what she has. So I guess she has this super rare disorder that less then 150,000 people in the United states have. Then you cut that in half and she is in that percent of people who it doesn't show up in their genetic tests. Pretty rare indeed.

When her Dr first called and said the test came up negative, I was really discouraged. I felt like 'Here we are again with all these symptoms and no answers' But I really feel confident in the doctors decision to keep this diagnosis. I dont want Natalie to have ANYTHING but if she is going to have something wrong with her I want to have a name for it. Something I can hold on to. It makes it more tangible in my mind, that I can put a label on it. I guess I'm just so tired of being frustrated from all these years of Ben having this problem and nobody knowing whats wrong with him. I don't want Natalie to have to suffer the way he has.

So we can only go up from here :)
In other news, Natalie has an ear infection. Poor kid cant catch a break. She never cried or acted like she was sick. She just started getting these really high fevers in her sleep. I wasnt even going to take her to the Dr, But I did anyway just to be on the safe side. She has been acting so happy and healthy. My mom said I did the same thing when I was little. One day I woke up and had ooze coming out of my ear. My eardrum had burst and she never knew anything was wrong with me because I never cried. Natalie and I are tough cookies :)

Natalie is really on a up swing with her speech. She actually said her own name today for the first time ever!! She said 'Natty coat' referring to her coat. She has been talking up a storm lately. Its like a little light bulb went off in her head and she has finally gotten over a hump of not being able to learn new things.

She watches Go Diego Go all the time and we have this one DVD running in her room. She watches it whenever Ben and I are studying or in the shower. She has almost gotten all the words memorized! She copies what they say on the TV! She doesn't understand everything that she is saying but she is mimicking which is HUGE!

Since she has started daycare she has really opened up! I'm so proud of her. Everybody tells me how beautiful she is and how sweet natured she is. We get compliments everywhere on her behavior and demeanor. She really is an angel. I am really thankful Heavenly Father sent her to us. I don't know what I have done in this life to deserve such a wonderful daughter, but I am truly blessed.