SMA Awareness

Livi took this picture of us

August is SMA awareness month. So I don't really like to talk about the genetics of SMA to people because I don't want to scare anyone. Lots of the SMA families we have met do so much to spread awareness, but I don't like to tell people they may be carriers of SMA. I'm sharing all this to make people aware and understand better what SMA is. Jeremy and I had no clue we were carriers of a faulty gene. Being a carrier doesn't affect the person. You have no way of knowing unless you are tested for it. Its just a simple blood test to find out if you are a carrier. There is no family history of SMA on either side of our families. So this is how it works. When both parents are carriers of the SMA gene then there is a 25% chance of each parent passing the SMA gene to children with each pregnancy. A SMA gene from both parents cause the child to have SMA. When both parents are carriers there is a 50% chance the child could become a carrier from one SMA gene from one parent, but be unaffected by the disease and also there is a 25% chance child will not be a carrier or get the disease. So when just one parent is a carrier their children will not get the disease, but have a 25% chance that they could become carriers. About 1 in 40 people are carriers of the SMA gene. One in 6000 babies gets SMA and its the number genetic killer of children under 2 years of age. Children with SMA are missing or have an abnormal SMN1 gene. The SMN1 gene is responsible for producing a protein that the motor neurons from the spine need to send out to the body to have normal movement. Without the protein the motor neurons die and the muscles atrophy. So those are the facts. Luke got the gene from both of us and Livi didn't. We will let Livi decide when she is older if she wants to get tested for being a carrier. There are 12 drugs in research for treatment and curing SMA. There could be a treatment in the next 5-10 years. I really don't dwell on that much because I have to focus on today and what Luke needs to make his life the best and fullest it should be. But it is exciting that they are so close to finding treatment.

Luke loves books

I know I put lots of pictures of Luke smiling and looking happy, but its not always like that. He is a really happy boy, but he gets frustrated and tired of sitting. He wants to move.  Everyday is challenging.  We are still learning about how to best take care of Luke. Questions about diet and equipment still to figure out. Sometimes I feel like I'm barely keeping it together. I have to take a deep breath and pray help me Lord. Just a short simple prayer. I ask God for help and I am believing that He will. I don't feel like I can take a step without Him.

I lift up my eyes to the hills, where does my help come from? My help comes from the Lord, the Maker of heaven and earth. Psalm 121:1-2

Strong arms!