SMA Awareness Month

 

For us, the month of August is all about awareness for Spinal Muscular Atrophy (SMA). Our four-year-old son, Nicholas, has SMA along with thousands of other people. In fact, 1 in 6,000 babies are born with SMA. That means that 1 baby born every 12 hours world-wide will be diagnosed with SMA. Spinal Muscular Atrophy is a genetic condition that affects a child's ability to move. Children with SMA usually never crawl or walk and most never achieve the ability to sit-up on their own. This also means that they cannot do simple things that most people take for grated: scratch an itch, wave hello, or turn pages in a book. SMA is similar to ALS (Lou Gehrig's disease) as it deteriorates a person's muscle tone over time, eventually resulting in death when the person affected can longer swallow or breathe on their own.

 The illustration above shows how SMA is passed on from parent to child. Both parents must be carrier of the SMA gene and almost every family who has had a child diagnosed has absolutely no history of the disease. Every time a couple conceives a child, there is a 25% chance that child will have SMA, like Nicholas. There is also a 25% chance the child will not have SMA and will not be a carrier for SMA, like our daughter, Ella. Ella will never have to worry about having a child with SMA as she is not a carrier. Even if she married someone who carries the SMA gene, there is no possible way she can conceive a child who will be affected. There is also a 50% chance that the child conceived by two carrier parents will not be affected but will be carriers of the gene like his/her parents.  A simple blood test can determine whether or not parents or children are carriers. Both Jeff and I were tested after Nicholas's diagnosis and Ella was tested tested in utero. If you are pregnant or thinking about starting a family, you can ask your ob/gyn about the SMA blood test. 

I love this photo of American Idol artist, Kelly Clarkson wearing a Gwendolyn Strong Foundation (GSF) awareness bracelet at a recent concert! Celebrities are starting to help spread awareness which is very exciting for everyone in the SMA community. Another awesome celebrity, Josh Duhamel, who is an actor, recently posted on his facebook page about Cashel Gardner's SMA project: SMA it Forward. Cashel is a fifteen-year-old boy living with SMA and he wants to get 1 million likes on his facebook page by his birthday in January 2013. You can click on the link above to like his page and do your part to help spread awareness.

There are such wonderful things going on in the efforts of medical research to find a cure for SMA. We recently learned that a very promising gene therapy program has been fully funded to begin human clinical trials in 2013. The trial will most likely start with type 1 newly diagnosed babies, and then older children and adults will be able to join in the trials if everything goes as expected. This means that a cure for Nicholas is probably several years away, but in the meantime we pray that many, many other lives may be saved!! In order for this trial to begin FDA approval is needed. You can read more about this exciting news on angel Avery's blog. Even though Avery's life was very short, she continues to do BIG things for the SMA community. Her story touched so many hearts, she is the main reason this trial has now been fully funded. You will never know how grateful we are, Avery!!!

To learn more about SMA and how you can help spread awareness, please visit the Families of SMA website.