I stayed up a bit later than usual for my right now sickly self…10 pm. While I was browsing around and reading Yahoo “news” (they truly suck) I saw an article that just made me click on it. “Bucket List for Dying Baby“.
Who wouldn’t click that? It’s a sad story and sadly, we humans can’t help but read sad things to make ourselves sad.
In Houston, Texas there is a lovely family named the Canahuati’s. The Mr. and Mrs. have a beautiful 5-month-old daughter named Avery. She is just the most beautiful, happiest looking baby. Unfortunately she won’t make it to her second birthday.
You see Avery has a rare genetic disorder called Spinal Muscular Atrophy. What the hell is that? That’s what I asked myself. I’d never heard of it. So I kept reading the article and found out. It’s the No. 1 genetic killer of children under the age of 2 in the U.S., but most people don’t know about it. An estimated one in 40 people are carriers of SMA. If both parents are carriers, like Laura and Mike are, there’s a 25 percent chance of their child having SMA.
Spinal muscular atrophy is a group of inherited diseases that cause progressive muscle degeneration and weakness, eventually leading to death.
Causes, incidence, and risk factors
Spinal muscular atrophy (SMA) is a collection of different muscle diseases. Grouped together, it is the second leading cause of neuromuscular disease. Most of the time, a person must get the defective gene from both parents to be affected. Approximately 4 out of every 100,000 people have the condition.
The most severe form is SMA type I, also called Werdnig-Hoffman disease. Infants with SMA type II have less severe symptoms during early infancy, but they become progressively weaker with time. SMA type III is the least severe form of the disease.
Rarely, SMA may begin in adulthood. This is usually a milder form of the disease.
A family history of spinal muscular atrophy is a risk factor for all types of the disorder.
It’s a terrible disease and something I never thought to get tested for while I was pregnant with my boys. The worst thing our genetics counselor told us was that I’m a carrier of the gene that causes Autism.
The Canahuati’s have started a blog that is “written” by Avery. (Really her dad) It’s about all the “milestones” she is hitting early and the life experiences that she is having while she can. Their goal for all of this, for the blog for doing all of this is not just for their own daughter, but to get word out about SMA. To urge couple’s to get genetic testing done and to see if either or both are carriers.
No parent should have to go through the pain of losing a child, but to know when your child is going to die? I couldn’t even imagine. I don’t want to imagine.
I will warn you now, if you read the article or the blog…have a box of kleenex. I bawled.
Not only did I bawl, but I realized that my illness, my surgery, it’s not nearly as bad as others. Sure I may be in pain, but at least I have my life. I’ve lived 26 1/2 years right now. I have two healthy children and a healthy husband. What do I have to complain about?
All we can do now is hope and pray that some sort of advancement in the treatment process will happen for this precious little angel.