SMAvery :`(

Avery passed away April, 30, 2012.  Please continue sharing her story in an effort to raise awareness about Spinal Muscular Atrophy (SMA).  Thank you!

Hello world, my name is Avery Lynn Canahuati.  I am 5 months old and I was diagnosed with Spinal Muscular Atropy (SMA) 3 days ago on April 6, 2012.  There is currently no cure for SMA and while there are some clinical research studies for a cure, I do not qualify for any of them so the reality is that this disease will likely take my life and there is nothing that can be done to stop it. 

My mommy, daddy, grandparents, friends, and family have chosen to embrace this news and instead of maing my life all about doctor's visits and tear-filled days, they are going to help me experience the best my life has to offer and I will do my best to chronicle my ‘bucket list’ experiences through this blog. If you have any ideas for, or would like to be a part of ‘Avery's Bucket List,' feel free to tell me or my mommy & daddy.  As for my future, who knows what it holds, but we're going to make each day I'm here a memorable one...starting now!

What Am I Expecting from Everyone?
Love and Awareness.  If you want to cry with me, cry with me.  If you want to laugh & smile with me, laugh & smile with me.  If you want to hug me, hug me.  If you wish to hold me tight, hold me tight (but not too tight please).  I don’t expect you to treat my any differently than you would any other 5-month old and I know my family doesn’t either.  The only thing I ask is that you share my story and bring forth awareness to SMA so that in the future there will be a cure for SMA or at the very least, people planning on parenting children know what there’s pre-screening genetic testing available to them and it will let them know if they’re a carrier of any genetic disorders/diseases such as SMA.

What is SMA? 
Spinal Muscular Atrophy (SMA) is the number one genetic cause of death for infants.  There are four primary types of SMA—I, II, III, and IV—based on age of onset and highest physical milestone achieved.  Regardless of which type of SMA an individual is diagnosed with, it debilitates their physical strength by attacking the motor nerve cells in the spinal cord, taking away the ability to walk, eat, or breathe without affecting a person’s ability to think, learn, or build relationships with others.

What Causes SMA?

SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a protein that is critical to the function of the nerves that control our muscles. Without it, those nerve cells cannot properly function and eventually die, leading to debilitating and often fatal muscle weakness.  
Yes.  Genetic testing is available for individuals planning to have children whom wish to determine their chances of passing on a genetic disorder, such as SMA, to their children.


Who Does SMA Affect?
SMA affects approximately 1 in 10,000 babies, and about 1 in 40 people are carriers of the SMA gene, meaning my mommy and daddy had a 1 in 1600 chance of both having it and even then there was only a 1 in 6400 chance I would get it.

Can You Test for SMA if You Plan on Having Children?
Yes.  Genetic testing is available for individuals planning to have children whom wish to determine their chances of passing on a genetic disorder, such as SMA, to their children.

What Are Symptoms of SMA?
The primary symptom of SMA is weakness of the voluntary muscles. The muscles most affected are those closest to the center of the body, such as those of the shoulders, hips, thighs and upper back. Special complications occur if the muscles used for breathing and swallowing are affected, resulting in abnormalities in these functions.


How Has SMA Already Affected Me?
I have already lost the ability to move my legs and eventually I will lose the ability to move my arms and my head.  When that happens it will be difficult and eventually impossible for my body to pump air through my lungs which is why most babies, like me, who are diagnosed with SMA type 1 have a life expectancy of less than two years of age with some dying in as little as a few months or even weeks of birth.  In some cases, children like me can survive with the dependency of a respirator, but even then, their life expectancy is still less than ten years of age and even lasting past two years of life is not guaranteed.


What’s Next?
Whatever I bring to life, because I don’t have time to wait for life to bring things to me...

Items I Can Scratch Off My Bucket List:
1. Writing a blog
2. Informing friends & family about SMA.
3. Celebrate Easter with my family.
4. Taking pictures in the bluebonnets (a Texas tradition)!

Don't forget to share my story by following & forwarding my blog, following me on Twitter  (AveryBucketList) and Like Me on Facebook (Averys Bucket List)!  While it may or may not help me in my lifetime, the more people who are aware of SMA, the less likely future children will be born with SMA, and the more likely there will one day be a cure for children who already have SMA!

http://www.facebook.com/AverysBucketList

https://twitter.com/#!/AveryBucketList

If you feel comfortable making monetary donations directly to a registered non-profit organization, mommy & daddy strongly encourage you to please do so in my name to the following organization:

Fight SMA (www.fightsma.org)

Cure SMA (www.curesma.org)

Sophia's Cure (www.sophiascure.org)

Thank you!