Evan & SMA.

He started to cough.

A little nervous and with a slight hesitation I slipped one hand down his back, and the other on his chest, and then, timing it perfectly with his weak cough, I squeezed.

I squeezed his tiny, frail body between my two hands. I repeated this a couple times, not wanting to squeeze too hard. I didn't want to hurt him.

Even shook his head in disapproval, and under his struggles to get a good breath, told me I needed to do it harder.

With that I did it harder, until together we had made it successfully through his coughing session.

Last summer my mother and I went up to Canada to go to SMA camp with my sister and her two boys. Her oldest son Evan has SMA.

By the end of the trip I finally got comfortable holding Evan, and helping him. For that I am so grateful I went to SMA camp with him. 

You see, ever since I had found out that my nephew had this disease called SMA, I was scared to help him. I am almost embarrassed to admit that, but I was. I didn't want to hurt him.

Because my sister and her family live in Canada, I hardly get to see him, so I had never really been around Evan long enough to learn and feel comfortable properly helping him with different things.

One of Evan's first Christmases with us Kira asked me if I would take him to the bathroom. I didn't show it, but I was petrified. I wasn't sure how to carry him without hurting him, and to sit him on a toilet.... what if he fell off? You see, his body is for the most part completely limp. He has little use of his muscles, and if not situated correctly, will fall like a rag doll to the floor.

I was horrified that he would fall, and it would be my fault, and because of that, I avoided tasks where I felt I could hurt him.

I am happy to say that today I am 100% comfortable holding him, moving him, and assisting him with his different needs. Like helping his body to cough... a task we take for granted everyday.

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What is SMA?

For those of you wondering, SMA is short for Spinal Muscular Atrophy. It is caused by a missing or mutated SMN1 gene. The SMN1 gene produces a protein called SMN protein that sustains the protective lining that surrounds normal nerve cells. The severity of the symptoms depends on how many back up genes you have. Some people have plenty of backup genes and some don't have any. A baby born with out the SMN1 gene and no back up genes will not live to see his first birthday. With out enough of the SMN protein the nerves that control voluntary functions of our body (arms, hands and even swallowing) begin to waste away and eventually they will fail altogether.

It is surprising that before Evan blessed our lives I had never heard of this disease before. One in every forty people are missing at least one of these genes but they don't know it because every human being has two sets of genes, one from your mother and one from your father. One in 6,000 babies born however are unlucky enough to receive two sets of  bad genes, one from each of their parents.

It is in fact the most common genetic childhood disease and the number one genetic killer of children.

What is amazing about SMA is that it may well be the first genetic disease that can be cured. It is the first disease that they are trying to treat with stem cells and at least two different treatments are seeing good results in animal studies. Unfortunately it can be a long road from animal studies to a cure. The first cure is an attempt to grow new nerves using stem cells. This treatment would also be a cure from spinal cord injuries. The doctor treating Evan told my Dad that they have successfully grown new nerves in a rat. The problem is that the nerve in a rat is about an inch long while the nerve from my spine to my hand is a nearly a yard long. A much greater challenge.

The second treatment is actually preparing to go to human trials and our little Evan is being considered for this trial. I know little about it but what I've been able to read it sounds like they have an injectable SMN protein. One shot and your nerve cells are protected for several months. It works in a Monkey now we need to see if it will work in a man. I don't think this shot will allow Evan to grow stronger but what a blessing if it will prevent him from getting worse. It would be an even greater blessing if a new born child could receive these shots and live a normal life. A friend of my dad's develops tests that are used to screen newborns for serious diseases like SMA. He told me that they don't screen for SMA because even if a child is found to have it there is nothing they can do for him. Now perhaps they will start screening them.

*explanation of SMA adapted from my Dad's Blog

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My sister Kira called me one evening and said she wanted my opinion on something. She said it was a little crazy and out there, but she wanted to do it anyways. She told me her idea, and I thought, what the heck?! Why not? If nothing comes from it at least it will spread awareness... and hey, if soldiers in the military can get celebrities to go on dates with them through a YouTube video... why couldn't we make something happen from this?! Last Christmas we made a Youtube video, and put it up a couple months ago.

My sister Kira (Evans mother) is a professional Oboe player. She is trying to draw attention to the disease and has made the following video to try and get her hero Josh Groban to help her write a song with her where she can play her Oboe that she can dedicate to all those families who are living with this affliction. With Josh Groban's celebrity, creating a song that could be donated to the awareness of SMA, it could be huge! It probably won't happen, but what the heck, why not try?

Wouldn't it be great if Evan could actually see a cure in his life time?!

Come on all you social media addicts such as myself, lets facebook, tweet, &blog about this video!


Let's spread awareness about this disease that effects so many children's lives!

Evan is such a sweet, fun, creative and smart boy. He loves everything Pirates, and is caring about other people. He is so funny, and constantly is saying things to make me laugh. I love him so much, and I want him to have the best life he can possibly have. He has some pretty great parents who are already doing that for him. I am lucky to be his Aunt.