Thursday, November 24, 2011

And the journey continues...

A pretty incredible event has happened since my last post. Emma became a big sister. Carter Tate was born on August 22 weighing 7 lbs. 8 oz.  It is amazing how easy he just fits into our family. I feel like he has always been here. He is smiling and cooing. He looks at his big sister with amazement and that he should, Emma is pretty amazing. I can't wait to see them grow and play together.

Emma has been communicating with the help of an IPad. Just the most basic apps have open up this whole new world between the two of us. She is answering questions and communicating her needs for the first time in her life. We will soon start working with more complex applications in hopes of having continued success.

There has been some pretty exciting news on the research front. Clinical trials will be starting soon on an FDA approved drug that reversed some Angelman Syndrome symptoms in mice. We found out this week that another scientist has found a compound that will turn on the maternal UBE3 gene that is silenced in Emma's brain. This would be a potential cure for Angleman Syndrome.

Several AS parents were having a discussion recently about their opinion of a cure and clinical trials. I was pretty surprised to find such a difference in opinions. Since Emma's diagnosis, I have dreamed of a cure. This summer, my dreams and what if's became more realistic. For the first time ever, I had reason to believe that it was possible. I guess I didn't realize that others looked at things differently. These parents, regardless of opinions, are warriors in their own right. They are all fighting a battle. Some are choosing to fight for a life of acceptance for their child despite having Angelman Syndrome. They are facing the future head on knowing the challenges that they will face. Others, are choosing to fight for a cure or treatment for their child. They are letting faith and hope lead the way. One thing that they all share, they want the absolute best for their child.

I don't know what a cure will look like for Emma.  I know that there are risk. Putting a child on a new drug is a scary thing. There is also the chance that my dreams of a cure won't be all that I imagine them to be. What will it be like if these meds don't work. These are all risk I am willing to take. Today, I have hope.


by Emily Dickenson

Hope is the thing with feathers
That perches in the soul,
And sings the tune--without the words,
And never stops at all,

And sweetest in the gale is heard;
And sore must be the storm
That could abash the little bird
That kept so many warm.

I've heard it in the chillest land,
And on the strangest sea;
Yet, never, in extremity,
It asked a crumb of me.

Saturday, March 5, 2011

But for the Grace of God

I have often wondered when the stares from strangers would go from looks of envy to looks of pity. I think we might be crossing over. I have seen the faces of friends, familiy, and strangers when they see Emma struggle to move. When they see us to all the work in getting her into a stroller, highcair, carseat. I see the look on their faces when I talk to them about AS. I call these the "but for the grace of God" looks. I can almost see some of them thinking, but for the grade of God, my child is healthy. But for the grace of God, my child does not have seizures, can walk,. can talk. I could agree with them. I could come up with an entire list of why they are the lucky ones. What good will that do me or Emma? I can also think of a million reasons of why I can say the same thing. Here are just a few...
But for the grace of God I have a child who has a smile that can light up a room.
But for the grace of God I have a child who knows how to work harder and is tougher than any adult I have ever met.
But for the grace of God, I have a child who has taught me patience.
But for the grace of God, I have a child who finds pleasure in some of the simplest things. Emma loves life. She sees good in everything around her.
But for the grace of God, I have a child who has taught me a new meaning of the word intelligent. There is so much going on in the head of hers. Who cares if it is not the norm of how we define intellegent. She is the smartest two year old I know.

We don't want pity. Emma's life is nothing to feel sorry for. She is going to have a great one. Of course she will have to overcome obstacles that I wish I could take away. It won't be easy and we will shed our share of tears. I have every bit of faith that she will make her stamp on this world. She already has.