What a Trooper...

I pre apologize for the long post your about to read, but I have had several calls of people that We so adore and are very, very thankful for all their love and support, that I am posting a little bit longer post then normal to give you the jist of yesterday.
Let me start by saying what an amazing little girl Mace is!! She truly inspires me and many other people that know her. Her out look on life is so uplifting. She carries the demeanor that she is just so happy to be here. Something I should be thankful myself for and not always think about how things could be better. What a blessing she is to have.

First off we checked in at 8:00am and they got us right in NO WAIT, (other than in the room while Dr. Swoboda a pediatric neurologist & geneticist, straightened things out) Then a Dr. Sweeney came in and did a exam on her while we waited for Swoboda to come back.

When she first came she found out that they had ordered a sedated LP (lumbar puncture)and the skin biopsies. Which I guess she didn't order an LP, and she was so confused on why they were going to sedate her for the procedure that she really wanted to do, which was an EMG (testing the muscle cell activity after muscle stimuli)and the skin biopsy. So needless to say Mace fasted from 1030pm until 9:30am the next morning for nothing. So at this point she was hungry, I am sure she was scared too.
So once she got everything straightened out we were off to the Procedure room.

Kell, and I both got to go back with her which was so nice. For those of you who don't know... Dan cant handle seeing anything happen to his little girls, so we have to leave him home!!!(sorry babe I had to share that info)

They started out with doing the labs on her, which you can see took a couple of people.

After that hurdle, Dr.Swoboda started doing the needle test again, however this time it was hooked up to her computer so it could record all the data. She said that Mace could feel a little more than she thought. (in comparison to the last test she did)

That Mace just amazes me... She actually did really good, when they put it on the bottom of her feet she pulled back, on the inside of her leg near her calf she could feel it there also. Then some she could and some she couldn't after that. On her torso she really didn't feel those very well.

Then she started on the EMG, which I don't really know the results of that. Dr.Swoboda has to look at all the collected data and will let me know the results of that. For that test it was also connected to her computer and she put these probes on her that shocked certain muscles at a certain electrical current to see what the muscle cells did. She seemed to do okay other than she was really scared. Some of them you could tell hurt her though.

Now the part that I wasnt looking forward to..the skin biopsies. After talking to the doctor I had decieded to go ahead and do them for the fact that they would answer some ?? for her, and help us to understand what to expect. The example she gave us was it will help to know if she feels dull pain or sharp pain, Cold or hot etc... however they did three, but they were smaller than the lady had told me on the phone.
The first one they did without any numbing at all... I tell you she is honestly amazing. As you can tell from the pic she could feel it.

The next two they numbed the area before, but it still looked painful.

So after: a night of fasting, a 2hr drive, in a room with 3 doctors (Swoboda, Sweeny, some MD with a yellow shirt on in the back of the room) 1 anesthesiologist (Dr.Evans), 1 respiratory therapist, and 3RN's and a CNA, Macie drank a well deserved bottle in the arms of her very proud mom with grandma kell next to us!!


Dr.Swoboda will call and set up an appt. when the biopsies come back and go over the testing that she did. She said it can take up to 6weeks. One thing that I found very interesting that she mentioned while doing the testing was that there is ONLY ONE specific syndrome that one of the symptoms is how Mace chews on the inside of her mouth. She would never tell us what that syndrome was (she cant until the results come back and confirm it)but she also stated that it was really rare. Upon investigation (Thanks Kell, and the internet, with some help of PCMC) supposedly there is a reported 100-200 cases in the USA with room for error in misdiagnosed cases. So as you are pretty aware I would defiantly agree with the rareness of this.

Mace after we got home..See why I say what a trooper! She was just excited to be home and have Noodles to eat. She is so inspiring.




The true lessons in life can be learned from the courage and bravery that you see in the smile of a child.