Awareness

August is Spinal Muscular Atrophy (SMA) awareness month.  It seems like every month has been designated for some special disease, cancer or rights these days, and if you are a member of Facebook, you can find a reason to celebrate every day-- Worldwide Ice Cream Day, No Underwear Day, National Eat Pizza Day and Sit On The Toilet Backwards Day (okay, the last one may be a bit of a stretch). I have had some inner conflict about whether or not to write this entry because I don't like calling attention to my disability; my disability calls enough attention to itself on its own.  However, I realize that there are many misconceptions and false facts out there about my disability, so maybe some accurate awareness and education can only be helpful. 

I am not going to unpack all the scientific jargon that causes SMA, but SMA is a genetic disease. The disease only manifests itself when both parents are carriers of the gene (at least for my particular type of SMA). SMA falls under the umbrella of Muscular Dystrophy;  there are over 40 different types of Muscular Dystrophy. If I am being vague about my disability, I will tell people that I have Muscular Dystrophy. If I want to be more specific, I say that I have SMA, and if I want to be really scientific, I explain that I have SMA Type 1. SMA has 5 major types (Type 0-4) in addition to several other rarer forms. Each type has a different age of onset, symptoms and prognosis. 

My sister, Crista, and I have Type 1; we were diagnosed around 6-8 months. Truthfully, my sister was diagnosed in 1963, but when I arrived in 1980 and exhibited the same symptoms as my sister, my parents didn't put me through the diagnostic testing. When my sister received her diagnosis, the doctors told my parents that the disease seemed to have arrested itself, meaning that the SMA was not progressing as it should. As a result, my sister has always been stronger, more able and healthier than I have ever been.  However, the first symptom that my parents noticed is that as babies we would not brace our legs when being held to stand. We would merely allow our legs to dangle. Another symptom for me as a baby was that I would always be sweaty if wrapped in a blanket. Mom would later learn that sweat was the body's signal for physical weakness because I was working hard for just basic functions like breathing. Today, even though I am skinny, I still sweat and get hot very easily.

In 1963 and 1980, a SMA diagnosis was delivered with a very grim prognosis and little hope. We were expected to live anywhere between 2 to 6 years of age. My parents decided not to dwell on the length of our years and inabilities but rather on the quality of life and our abilities. My childhood, adolescent and teenage years were much more difficult for me than my sister. My health was always rocked by pneumonia, bronchitis, sinus infections or just the common cold. These illnesses would always secure me a hospital bed and an extended stay there. Since my sister was stronger when she was growing up, she didn't have the respiratory complications as I did. In essence, we both have the same disability, the same type of the disease but very different progression rates. 

I lost complete use of my arms when I was a freshman in high school; my sister maintained some mobility of her arms into her early 50s.  My sister is still able to operate her electric wheelchair with the remaining movement in her thumb. I lost my ability to eat effectively at 24; my sister is still able to eat well and easily. Of course, she has to rely on other people to prepare and feed her the meal. I struggle with pain on a daily basis, so my stamina is compromised due to pain and discomfort. On the other hand, my sister is able to sit in her wheelchair with relatively little discomfort. I am not saying that she doesn't get uncomfortable, but the discomfort doesn't alter her daily activities or responsibilities. 

Type 1 SMA is a disease that slowly affects all voluntary muscles, and it also compromises the respiratory system. For my sister and I, the progression has been very slow and gradual... almost to the point of unnoticeable at times.  Yes, I definitely noticed when I couldn't write or drive my wheelchair; I definitely remember not being able to chew and swallow and then most recently not being able to talk.  But these losses didn't just happen overnight; it was gradual weakening throughout years, so my sister and I have constantly had to adapt to compensate for the weakening. On the day when all options to compensate have been exhausted, it almost brings a sense of relief because I no longer had to fight with my body to complete a task. My body could no longer physically do that task, and I had to adjust to having other people help me. 

Self acceptance and adaptation are key to living with SMA; life and health are constantly changing. This key is not just for the person living with SMA, but it is also for the family and support group surrounding the person with SMA. Today, living with SMA is more hopeful than it was 40 years ago. There are several treatment options and even gene therapy available that stops the progression of SMA. I know that babies who have been diagnosed with SMA in the womb can receive gene therapy right away before they exhibit any symptoms. It is likely that these children will live a life fairly free from SMA complications. However, for those of us who have lived with symptoms for years and have watched our muscles disappear, there are a couple treatment options that don't necessarily improve anything but it halts further progression. These drugs were FDA approved and made available to the public when covid started its ambush. I decided to wait and see how others responded to the treatment and to see what side effects showed up. From what I have read, the treatments have been fairly effective with little to no side effects. I will admit that I am struggling with whether or not to take the treatment  because I am looking at quality of life versus quantity of life. 

For example, I follow this family with a child who has severe SMA--vent dependent, severe lung issues and several other complications. The parents have put this child on one of the SMA treatments.  The child has a loving and supporting family; the child has a good quality of life aside from the setbacks of her disability. But yet I wonder if the treatment will only prolong the time of struggling with the disease. Does this child want to live in a care facility when the family can no longer care for her? Does this child want to spend 50+ years on a vent because the treatment is preventing the disease to take its natural course? Yes, I know that God's Plan will be carried out irregardless of treatment or not. And I am assuming that is how this family is feeling too. It is all in God's hand, and I should leave my decision for treatment in His hands. 

Living with SMA is not bad; it is difficult, but with family, friends and other supporters, one can enjoy a happy and fruitful life. SMA is not contagious; SMA rarely affects the mental capacities; SMA is just going to teach one how to adapt and improvise. My mom has been a primary caregiver to SMA for over 40 years, and she still confesses that she is still learning new things. She will admit that she rarely had a dull day in her life. I don't hate my disablity, but I do get tired and frustrated with it. It is difficult to rely constantly on others for cares and everything else. But when I begin thinking this way, I remind myself that I am giving my caregivers a job and a purpose. If I didn't have needs, they wouldn't have an income!!

So, in a nutshell, SMA is genetic; it is not hereditary.  There are some forms of Muscular Dystrophy that are hereditary.  SMA is no longer a fatal prognosis as there are some treatment options available. Finally, people with SMA are no different than able bodied people. Accurate awareness is crucial for everyone.