Planning a pregnancy or already pregnant? The first question most women ask, is "is it a boy or a girl?" The second most common question is, "Will my child be healthy?"
When you are pregnant, it's an exciting time filled with hope and possibility. There are many things to consider about your child's future. The last thing you want to consider is having a child with a genetic disorder, yet every year, there are more than 700 children born with a genetic disorder called "SMA". Spinal muscular atrophy, it is the #2 genetic disorder after Cystic Fibrosis. While most women are tested for Cystic Fibrosis, they are not tested for SMA even though the carrier incidence is roughly the same (1 in 27 for CF compared to 1 in 40 for SMA) and a simple blood test can reliably detect your SMA Carrier status.
SMA is a neurodegenerative disease that affects voluntary muscles that allows a child to suck, swallow, sit and hold the head upright. Sadly, most children with SMA Type I do not make it to their second birthday because of this terrible disease, even after coming home from the hospital with a perfect "APGAR" score.
With carrier genetic testing and other genetic testing options, you can control how it affects your family. Genetic testing and the SMA community unite here so you can focus elsewhere: on your growing family.
Sifting through the information
You're likely here because you're planning a pregnancy or recently became pregnant. Congratulations! Nesting doesn't just mean preparing a nursery; this is also a good time to arm yourself with information. Your doctor may have introduced you to some tests that will be performed that will affect the health of your child, including SMA. In the world of discussion, genetic testing, and cutting-edge research, where can you start?
- SMA affects all populations, regardless of race or ethnicity, so consider carrier testing and/or prenatal testing.
- There are a range of genetic testing options available to you; see what makes the most sense.
- If carrier genetic testing revealed SMA, your doctor will help you locate genetic counseling services.