SMA Awareness Month

This is a sponsored conversation written by me on behalf of Counsyl. The opinions and text are all mine.

As many of you already know, I am in the medical field and so whenever I have the chance to spread awareness, I love to do it! August is SMA Awareness Month. For those of you who do not know what SMA stands for, it’s Spinal Muscular Atrophy, which is the number one leading genetic cause of death in children under the age of two in the United States. SMA is caused by changes in the SMN1 gene, which controls motor neurons in the spinal cord and brainstem. With the most common (and most severe) form of SMA, babies have trouble breathing, swallowing, and sitting up, and cannot meet any motor skills milestones. The Bessey family lost their baby to SMA in 2013 and then created the Hearts for Ezra Foundation to help spread awareness to others (see more about their story here). They have already raised over $40,000 to help raise awareness for this disease.

Counsyl, a DNA testing and genetic counseling company, provides the Foresight™ Carrier Screen, which couples can use to detect if they are carriers for serious genetic conditions such as SMA before becoming pregnant. It’s covered by most insurance companies and can be very helpful if you have a family history of possible genetic conditions. It’s great to be able to plan ahead and carrier screening like this makes it possible.

It can be a bit confusing when it comes to figuring out what the odds are if you are a carrier. If both partners have changes in the SMN1 gene, they are both considered to be carriers. If both partners are carriers, there is a 1 in 4 (or 25%) chance to give birth to a child affected by SMA. Tests like the Foresight™ Carrier Screen give you a better understanding of genetic conditions and helps you determine if you are a carrier.

Every year around the holidays we choose one foundation to donate money (and/or time) to. This year, the Hearts for Ezra Foundation will be the one we donate to! If you are planning to do the same, please consider raising awareness for SMA. 🙂

 

2 Comments

  1. September 5, 2017 / 8:22 am

    Thank you for sharing this! I had no idea SMA was the number one leading genetic cause of death in children under the age of two in the United States. That statistic is scary.

  2. November 13, 2017 / 9:10 am

    Excellent blog,the best blog I have seen,and this post was very good to know,Thank you.

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