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)
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.