Hey Everyone! So, it is SMA Awareness Month as of today! I have never really participated in any of the online writing challenges surrounding this month, but I thought since knowledge is power, I would spend this month sharing my thoughts on SMA, and educating people who have no idea what this neuromuscular disability is. Without further ado, here is my first post, in which I will try to explain what SMA is.
When people hear about SMA, they generally only hear about the statistics. Yes, those statistics say that both parents typically pass SMA onto their children. They say that SMA is the number one leading genetic killer of children under the age of two. Sometimes, the statistics even mention the various types of SMA. What I find these statistics do is take the personal out of this neuromuscular disorder. Facts and figures do not always provide a great look into the life of someone living with SMA.
SMA stands for Spinal Muscular Atrophy. It is typically found as an autosomal recessive, genetically passed down neuromuscular disease. Of course, there are always exceptions, and some people with SMA have it, due to genetic mutations, but this is not excessively common. What this means is that both parents have the gene that causes their child to have SMA. The parents are typically unaffected, and in many cases have no idea they are carriers of the gene. This means that there is a one in four chance that the child of two carriers will have SMA. It also means that if the child does not have SMA, they have a 2 in 4 chance of being a carrier themselves.
There are three, sometimes four, primary types of SMA. SMA Type I also known as Werdnig Hoffman, is the most severe. Where once, most babies with this type of SMA did not make it into adulthood, today, we see many children with this type living into early adulthood, thanks to advances in medicine and technology. A child with SMA Type I does not walk or crawl. They typically cannot sit up on their own, or hold their head up. In the olden days, the condition was sometimes called Floppy Baby Syndrome, because the limbs appear floppy, due to lack of muscle control, in the child. Some children with SMA cannot speak, but many have found success communicating with Eye Gaze software, and other technology used for communication.
Adults with milder cases of SMA Type I are currently living into late adulthood. Some are living independence lives with jobs, their own homes/apartments, and even raising their own families. The other types of SMA, which are milder than Type I often see independence and self-sufficiency as highly attainable, thanks to community-based care initiatives, such as consumer directed care, as well as technology like wheelchairs and Hoyer lifts, which help provide independence.
SMA Type II is the next type of SMA. It is sometimes called Intermediate Spinal Muscular Atrophy. It is diagnosed before a child turns 2. Many children with this type of SMA can crawl, but they do not stand, unsupported. This type of SMA typically does not affect lifespan, though more severe cases of respiratory problems, are typically the cause of early death in individuals with this type of SMA. This type of SMA is milder than Type I, and many with this type can sit up unsupported, at least in childhood.
SMA Type III is the mildest form of childhood onset SMA. It is also known as Kugelberg Welander Syndrome. Typically, it is diagnosed between the ages of 2 and 15. I have this type of SMA. I was diagnosed at age 4. Children with SMA Type III typically follow two different trajectories, sometimes call Type IIIa and Type IIIb. In Type IIIa, children often struggle to climb steps independently, and often go into a wheelchair sometime during early to mid adolescence. Children with TypeIIIb are often diagnosed later in childhood. They can climb steps independently, though may lose the ability in early adulthood. These adults walk into adulthood, and can often stand with or without assistance throughout their life. I, of course, am a Type IIIa, and my disease has progressed further due to injuries I have sustained.
SMA occurs when our body does not make an essential protein called SMN1 or survival of motor neuron 1. Our bodies also make something called SMN2, which is identical to SMN1. People with SMA make SMN2, but the quantity is not enough to replace the loss of SMN1. So, how severe your SMA is depends on how many copies of SMN2 a person with SMA has. The more SMN2 genes, the milder the type of SMA. This is why two people with the same type can have drastically different levels of strength. Essentially, this protein is needed so the nerve endings can connect to muscles to trigger them to move. The connection between nerve ending and muscle is disrupted, and the lack of muscle movement can cause the muscles to atrophy. As the name implies, the muscles atrophy closest to the spine first, and fan out, from there. SMA is progressive, so that means the nerve endings may never have formed or may disappear, over time.
There are a lot of therapies, in the works, that are trying to replicate what SMN does in the body. The hope is that these treatments will alleviate the more severe and often life threatening symptoms of SMA.
Despite everything, SMA does not have to limit how a person lives their life. Many people with SMA have average or higher intelligence. This allows for a lot of creativity and ingenuity, when finding ways to be independent. SMA does not affect a person’s ability to have children. People with SMA can only pass SMA on to their children if their partner is also a carrier. However, this child will automatically be a carrier of the SMA gene, as the parent will pass on one carrier gene to their child, since those of us with SMA have two carrier genes and zero non-carrier genes.
Most of my friends with SMA span the types of SMA. Most of them live on their own with the assistance of PCA care. Many have college degrees, mostly advanced degrees such as their Master’s, PhDs, or JDs. Most can work, though some must limit their hours to keep their PCA hours, in order to remain independent.
Like most disabilities, the most disabling aspect of having SMA is stigmatizing attitudes. We face a lot of discrimination due to the fact that we have a neuromuscular disability. It is this type of discrimination that is far more disabling to us than anything SMA throws at us. With the right support and tolerance, many of us with SMA can and do thrive!