Living with SMA
 Sunday, Jun 22, 2008 - 06:35 PM 
By Andrew Doud
Eyewitness News 9

Parents hope their kids will have a healthy life but, sometimes that doesn't happen. There is a disease that parents can unknowingly pass on to their children before they're even born.


It’s the leading genetic killer among infants and toddlers. 4-year-old Emma Shifflett suffers from Spinal Muscular Atrophy, a disease 1 in 6000 infants are born with each year.


Her mother, Brandy said, "Having a child is the greatest blessing and it's like all that was taken away because you were almost given a death sentence."


For the first year and a half Shifflett says Emma was developing normally, but then things changed.


"She never stood up and never walked. She crawled a little bit but it started getting a lot slower to the point where she couldn't crawl at all."


Now, the only way Emma can get around is a wheel chair she controls with her hand.


SMA is a progressive neuro-muscular disease that gets worse with age. There are 4 types, Emma has type two which affects her breathing, her ability to sit, stand and walk. How long she can live with it is unknown.


“Her mind is above average. There’s nothing intellectually wrong with her but physically her body isn't able to do the things that she would like it to do. She pretty much depends on us for everything," said Shifflett.


In order for children like Emma to even get the disease, both parents need to be carriers. About 7 million people are.


Even then, there is only a 25 percent chance that the genetic disease will be passed on and while there's isn't a cure for this disease, Shifflett says, "You cherish every moment with her and try to help her enjoy her life just like a normal child."


Shifflet said she had never heard of the illness before Emma was diagnosed. She said a blood test can be one to find out if you are a carrier of the gene.