Monday, November 10, 2014

Well, Hello Blog!

Wow, I cannot believe how long it has taken me to come back to you, dear blog, dear followers. I think I felt like taking a short break. Too much has been going on. I cannot even remember what I am supposed to fill you in on...
Let's see....where was I...

Well, first thing first, the Natural History Study I am taking part in took place three weeks ago. It was phase one, with blood draw, testing hands, feet, walking, cognitive aptitude on a computer, electric signal from needle in muscles, breathing test, EKG, EMG, Dexa Scan, etc.
I was at Stanford a total of 8 hours and felt exhausted by the time I got home.
The biggest item on the list of procedures was my first muscle biopsy, which was actually quite nothing, as I expected fear and pain. On a scale of 1 to 10, ok maybe 2...
Looking at the 4 pieces of muscle collected, I pondered and thought to myself: "Maybe they will shine a light on the mystery behind this disease, maybe they will enable scientists to perform their magic.."

I left feeling both elated and empty, elated for the progress of science and empty after 8 hours of being studied, prodded, and observed down to my hand clenched on a table being filmed opening up, in an image that felt like slow motion, but that actually was not.
We'll see what comes of it later on when the results are found. In the meantime my blood was fedexed to Rochester, NY to be analyzed.
One thing I didn't realize was that the number of repeats in your cells that are affected by MMD do augment with time. This was a bit of a blow, but as Dr. Day says:"Don't look at the numbers! They are just a piece of the puzzle". I will try to keep his advice in mind.

So this was the baseline visit, the next one with another biopsy is in January and the final one in the fall next year.

As far as Zoé is concerned, we went to our much anticipated cranio-facial and plastic surgery clinic for the mouth and were given some ideas to hold that mouth shut with a chin cup, and orthodontia.
We'll take it one step at a time.
First thing on the list, we are scheduled for a sleep study on January 9th and we'll see if she has sleep apnea or not.  A lot of kids affected with MMD do have sleep apnea. I don't, I sleep like a log, Zoé on the other hand wakes up quite a bit at night.
Then, a nasaloscopy, a small needle the size of a drinking straw with a camera to see if everything is open in the nose, and then we'll consider a night guard in the mouth to prevent the teeth form growing and growing...I came out of that clicnic quite beat down. It seems that we are not given a breather, come on, when it is going to stop?

I am nervous about the whole outcome and then Zoé has got a pretty bad cough right now, and she doesn't have the strength in her lungs to cough it up.
My poor baby cakes. She is such a trooper, I mean this kid is going through the wringer, and yet, she is happy as a clam, and the light of my life. When things are cloudy and scary, I look at her and feel like she lifts it all away.

Well, we did have some fun and sunnier days in the last month with Halloween and Day of the Dead celebration, with trick or treating culminating in pumpkin patches. we've been having fun.
So long, dear readers, keep tunimg in for more news to come.

Officer Berman

Our Sparkly toothed pumpkin

Happy Day of the Dead!

Kumon here I come.

Catching some ZZZ in the car on the way to Stanford Hospital.

On top of the world, on top of Ozzie, the horse.

Happy Halloween!