SMA Genetics

This is a great illustration of how Spinal Muscular Atrophy is passed on to children and how many people carry the SMA gene. Genes are a mysterious thing as we have two children: Nicholas, who has SMA and is a carrier of the gene & Ella, who is unaffected and not a carrier. We have one child on each end of the spectrum. Both children were conceived naturally so both had an equal chance of not being born with SMA (75%). Unfortunately, Nicholas received a carrier gene from both me and Jeff which caused him to have Spinal Muscular Atrophy. Ella did not receive a carrier gene from either of us which means that she does not have SMA and is not a carrier, thus she will never pass this disease on to her own children. Jeff and I were unaware that we are both carriers of the SMA gene as we do not have family history of SMA. I opted not to take the carrier screening test while I was pregnant with Nicholas as it was an extra test, not one that is routinely given during pregnancy. I now believe that the carrier screening test is very important because if we would have known that Nicholas had SMA before he was diagnosed at ten months it would have given us more time to prepare and inform ourselves about the disease, and it would have allowed us to seek therapy and get necessary life-saving medical equipment much sooner. If you are pregnant or plan on becoming pregnant, consider asking your doctor for the SMA screening test. It could help prolong your (SMA affected) child's life and save you a lot of unexpected grief and heartache.

One couple, Stephanie & Brandon Humes, chose to take the SMA carrier screening test before trying to conceive children as suggested by their doctor. They found out that they are both carriers of SMA and have decided to use medical technology (in-vitro fertilization with genetic screening) to help them conceive a SMA-free child. They also started a charity for SMA children called Lullaby Blankies. To read more about the Humes' story, click here.