May 6, 2010

Spinal Muscular Atrophy

Stephen and I recently decided to get a whole battery of testing done on our genes. Even though Rachel having Down syndrome was not a result of a hereditary thing, we wanted to make sure there wasn't anything else we needed to be prepared for when we start trying for another baby. I found out that I carry the SMA gene. This is something that I wasn't prepared to know. No one in my family, either side, has even had this from what I know. Stephen then needed to be tested for it to see if he was a carrier too. If he was a carrier, our next child had a 1 in 4 chance of having this disorder. SCARY. But, thankfully, he does not have it. Our next child and Rachel, now just run the risk of being carriers. Something I have to remember so I can tell them when, or if, they decide to have children. I also told my brother and the rest of my family so they know it's floating around in our gene pool somewhere and that they may want to test for it when it comes time for them to have babies. Has anyone ever known of someone who has this disorder?


  1. Visit They're an amazing family living with SMA and raising money for research and a cure.

  2. I've never even heard of it. Glad Stephen isn't a carrier too though!

  3. I have a friend from HS whose daughter has SMA, some one on the WTE Jan 2010 had a baby with it who died, and I know a gal whose son has SMARD (SMA with respiratory distress). It's a tough one.

  4. HI, My name is MJ and I have SMA. Got your blog from a Google alert that searches SMA Articles. SMA is scary but if you go to there you can meet tons of families whose kids have SMA. 1 in 37 people carry the gene and if both parents carry the gene, there is a 25% chance of having a kid with SMA. A good source of information about SMA is
    Good luck and thanks for spreading the word about SMA.


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