My Fast Five
What is SMA?
Spinal muscular atrophy is a form of Muscular Dystrophy. It is a genetic disorder (meaning I received abnormal genes from my parents) and it is a degenerative (meaning my disorder will only get worse as time goes on). There is so much more information about SMA now than there was when I was first diagnosed. In my lifetime, doctors have been able to identify which gene is affected (SMN1) and what causes the "miscommunication" between the genes, the protein required to make muscles move, and the muscles themselves.
Because my muscles remain inactive, they are atrophying, or wasting away. There are varying degrees of SMA (I have SMA Type II), and no two cases are the same. As you can tell, SMA is a complex disorder, so if this information seems too confusing, you're not alone! I feel a bit lost about the scientific details myself but have found www.curesma.org to be an excellent resource.
Is it treatable?
Up until a few months ago, I would have said that there is no treatment for SMA. However, the FDA recently approved the first ever drug therapy for SMA, Spinraza. While I am not receiving the treatment, it is still a historic breakthrough for individuals with SMA.
In my case, the goal is more about managing symptoms than treating them. I have a team of specialists who try minimize my discomfort and optimize my quality of life. My team includes my family doctor, a respirologist, an occupational therapist, a physical therapist, and a neurologist.
Am I in pain?
The short answer: no. I do not live with chronic pain and do not experience pain in my everyday life. Do I have discomfort that can lead to pain? Yes. Since I am unable to move my muscles, I need assistance with positioning my body throughout the day, down to my baby toe. If I am not positioned correctly, I can experience fatigue, skin sores, and nerve pain. This is especially a concern at night, when I'm trying to sleep. I benefit from stretches but have found physical exercise to be more damaging than beneficial due to my tendency for extreme fatigue.
Does SMA affect intelligence?
No, it does not. Despite the assumptions and stereotypes I experience, having SMA and being in a power wheelchair does not mean I have a mental disability. Yes, I definitely need assistance in carrying out physical tasks but people should be mindful of what stereotypes they are engaging in when they see someone in a wheelchair. Don't get me wrong. I am guilty of stereotyping too - we're all human - but we should all first try to get to know one another before making judgments on a person's abilities.
Who is my support system?
From day one, my parents have been my cheerleaders, my advocates, and my attendants. Having taken on the role of primary care giver, my mom and I spend a lot of time together. Whether it be helping with personal care, positioning me at night, or being a shoulder to cry on, she is always there to help. Being a jack of all trades kinda guy, my dad helps me with the "mechanics" of having a disability and I so much appreciate his support.
Even with all the support from my parents, I have always needed extra help. Before I entered kindergarten, there were a few special individuals offered their help through respite. I had several educational assistants (EAs) over the course of my school years who helped with note-taking among other things. Similarly, when I started university, I hired note-takers who could also be my assistants.
Knowing that we needed more support at home, I hired a health care aide (HCA) in 2015. This individual has been so supportive and has shown tremendous empathy and compassion in her willingness to help.