Make SMA carrier screening standard
  • Petitioned medical professionals

This petition was delivered to:

medical professionals
OB/GYN offices
Any woman that is/plans to be pregnant
Any person with SMA history in their family
Genzyme, A Sanofi Company

Make SMA carrier screening standard

    1. Joanna Shirley
    2. Petition by

      Joanna Shirley

      richmond, TX

I just watched a precious 5 month old, Avery Lynn Canahuati, pass away from SMA Type 1. On Good Friday, 4/6/2012, she was diagnosed with this genetic disorder and given no more than 18 months to live. She had lost movement of her legs and could no longer lift her head. On 4/30/2012, her life was cut terribly short. Could you imagine seeing your precious baby go through something like that? Through it all, SMA never took her smile away, and she fought like a champion. No parent should ever have to go through this, and with the awareness Avery brought to this genetic disorder in her short time here, I am hopeful that she has laid the groundwork to finding a cure. However, let's not let her work stop with her sudden passing. We need to reach EVERYONE we can to continue spreading awareness and make sure SMA carrier screening becomes a standard test offered to parents before conception or early in pregnancy. If you have been watching the news, I am sure you have been hearing about Avery and her blog with her bucket list. This just shows what a courageous baby girl this was, and how we need to continue to honor her legacy. If you haven't seen her story, I invite you to open your heart, grab a tissue, and start reading. http://averycan.blogspot.com/ You will be forever changed!

Spinal Muscular Atrophy (SMA) is the #1 genetic killer in children under the age of 2. Yet, most people, have never even heard of this genetic disorder. I know I had never heard of it before reading Avery's story, and I know her parents hadn't either. If Doctors would start making testing for this disorder standard, the number of babies born with this disorder would greatly decrease, and the parents having to experience heartbreak when they have to bury their babies would also decrease.

It's a simple blood test with one parent to determine if he/she is a carrier of the gene. If that parent is a carrier, the other parent can be tested.  If both parents are carriers of an abnormal gene, there is a chance that each parent will pass the abnormal gene on to their child. An individual with two abnormal genes for an autosomal recessive disease will be affected with the disease. When both parents are carriers, with each pregnancy there is a:
25% (1 out of 4) chance that the child will inherit two normal genes, and will be neither a carrier, nor affected with the disease
50% (2 out of 4) chance that the child will inherit one normal and one abnormal gene, and will be a carrier of the disease (but not affected with the disease)
25% (1 out of 4) chance that the child will inherit two abnormal genes, one from each parent, and will be affected with the disease

Per labcorp.com, "Given the severity and frequency of Spinal Muscular Atrophy (SMA), the American College of Medical Genetics (ACMG) recommends SMA carrier screening be offered before conception or early in pregnancy to everyone. The primary goal is to allow carriers to make informed reproductive choices." So, why is it that most doctors have never even heard of this genetic disorder, and it's not a standard test being offered?

Parents should have an option to be able to find out if they are carriers, and if it's a possibility their child could be born with SMA. At that point, there are several decisions that can be made:
have prenatal testing (amniocentesis or CVS) done early on to determine whether or not the baby has inherited the two abnormal genes (if the mom is already pregnant)
accept this level of risk and have children without further testing
go through in vitro fertilization and test the embryos using preimplantation genetic screening (PGS)
adopt children
use donor sperm or donor eggs
not have children

We need to spread awareness of this genetic disorder, so parents know about this and can make an educated decision to get tested. There is no reason another baby should be born with this disorder. Please remember...this petition is to spread awareness about SMA and to get testing to be offered as a standard to parents. This is in no way intended to promote abortion. 

Recent signatures

    News

    1. The petition is coming to a close...

      Joanna Shirley
      Petition Organizer

      August is SMA month. Please let's get more signatures and spread the word. Let's reach our 25,000 signature goal. Last month Governor Rick Perry of Texas sent me a certificate honoring Baby Avery and SMA and awareness for the month of August. Let's see if we can get all states on board. E-mail your Governors and ask them to follow and help spread the word!

      Thanks for your continued support!

    2. Look at this! The State of Delaware has recognized Baby Avery and SMA!

      Joanna Shirley
      Petition Organizer

      146th General Assembly
      Senate Concurrent Resolution # 41

      Primary Sponsor: Cloutier Additional Sponsor(s): Sen. Bonini & Rep. B. Short
      CoSponsors: Sens. Booth, Bunting, Connor, Ennis, Hall-Long, Katz, Lawson, Simpson, Sokola, Sorenson; Reps. Bolden, Brady, Briggs King, Hudson, J. Johnson, Kowalko, Miro, Mitchell, Osienski, Outten, Walker

      Introduced on : 05/16/2012

      Long Title: RECOGNIZING THE FIGHT OF BABY AVERY CANAHUATI AND THE GROWING NEED TO RAISE AWARENESS ABOUT SPINAL MUSCULAR ATROPHY IN DELAWARE

      Synopsis: This Resolution recognizes the fight of Baby Avery Canahuati and the growing need to raise awareness about Spinal Muscular Atrophy (SMA).

      Current Status: House Passed On 05/17/2012

      To read more, go to the State of Delaware's Web Site

    3. We have reached over 17,500 signatures!

      Joanna Shirley
      Petition Organizer

      Friend,

      Thank you so much for your support. I know you are working hard to spread the word...thank you!

      Avery has touched so many lives around the world. In the days since her passing, donors have given just under $284,000 in her memory, and the number keeps growing. This shows what an impact her life has had, and how many people agree that something needs to be done to spread the word about SMA and a cure needs to be found. If you would like to donate, here is the link:
      http://www.sophiascure.org/blog/gene-therapys-major-anonymous-donor-touched-by-averys-bucket-list

      Today, I am urging you to contact your congressman and your governor. Please send them a letter and reference the above link, along with a link to this petition, so they can see the support for SMA testing and research to finding a cure for this terrible genetic disorder. If you or someone you know is pregnant, tell them to talk to their OB/GYN about this. Let's bombard them all!

      Thank you for all you are doing!
      Joanna

    4. Reached 17,500 signatures
    5. WOW!! In less than 24 hours, we have hit 15,000 supporters!

      Joanna Shirley
      Petition Organizer

      This is amazing progress, and we couldn't do it without your help! Since this morning, I have been in contact with 2 Obstetrics/Gynecologist boards, 1 OB/GYN office, and a connection at a hospital. I am looking to other options to get the word out and spread the success of this petition.

      Please keep spreading the word, so we can acquire more signatures!

      Thank you!

    6. Reached 15,000 signatures
    7. YOU DID IT!! You helped us reach over 10,000 supporters!

      Joanna Shirley
      Petition Organizer

      Thank you so much for your support of Avery's petition. With your help, we are well on our way to spreading awareness about SMA. Remember, we still need to get the word out. Please share with your friends and families, and ask them to share as well. If nobody knows about this disorder, how will we ever find a cure?

      This morning, I have sent communication to the American Journal of Obstetrics and Gynecology pleading for their help. There are several others I will be connecting with today. The more signatures we get, the more powerful we are!

      Thank you for all you have done so far. I know Mike and Laura Canahuati appreciate your support and help in honoring baby Avery's legacy.

      XO,
      Joanna Shirley

    8. Reached 12,500 signatures

    Supporters

    Reasons for signing

    • Jim Figaniak LOUISVILLE, KY
      • about 2 years ago

      Every child deserves a chance.

      REPORT THIS COMMENT:
    • BILLIE STEPHENS RIO RANCHO, NM
      • about 2 years ago

      No child should suffer this and no parent should suffer the loss of a child for any reason, but especially something that can be prevented.

      REPORT THIS COMMENT:
    • Jessica Moffett BRASELTON, GA
      • about 2 years ago

      For Skylar Marie Jones, Avery Canahuati, and every other baby born with SMA...

      I fully support the need for carrier screening and most importantly - a CURE for SMA.

      REPORT THIS COMMENT:
    • Noel Anese REYNOLDSBURG, OH
      • about 2 years ago

      So no one else has to be this brave without a cure or options

      REPORT THIS COMMENT:
    • Katie Gentilello WINDER, GA
      • about 2 years ago

      A friend lost her baby to this recently and I've never heard of it. It's devastating. I think this is an important test to provide for family planning.

      REPORT THIS COMMENT:

    Develop your own tools to win.

    Use the Change.org API to develop your own organizing tools. Find out how to get started.