As some of you may already know, August is SMA Awareness Month. What you may not know is that I was diagnosed with SMA Type 2 when I was one year old. SMA (Spinal muscular atrophy) is a genetic disease that affects the central nervous system. My parents started to become concerned when I didn’t start walking by age one and when they tried to sit me up, I kept falling over no matter how many pillows they used to prop me up. There are pictures of me standing and crawling, which is pretty crazy for me to see since for the past 11 years of my life, I’ve lived in a power wheelchair!
With SMA, we are missing our SMN-1 gene which is responsible for sending signals between your brain and your muscles. There are four types of SMA. Type 1 is when you’re born with floppy baby syndrome and most babies don’t live very long. Type 2 (what I have) doesn’t appear until 12 and 18 months when you may begin to digress and cannot sit or bear weight on your legs. Type 3 is most common in teenagers and you are usually diagnosed at a later age and may still have muscle movement. With Type 4, you can live most of your life not knowing anything about it!
Living with SMA has a lot of restrictions. There’s a lot of things that I’m not able to do because SMA is a degenerative disease, which means that my muscles will continue to weaken as I get older. I’m not able to move my legs on my own and I’m not able to lift my arms up. Picking up and trying to use a crayon or pencil is extremely difficult because it requires me to use pressure and that’s hard for me to do. The only thing I can use to write with are markers because they write easier. SMA also causes internal weakness, such as in my throat. There are certain things that I can’t eat because I can choke. My lungs are extremely weak and a big concern about living with SMA is respiratory issues. I can’t clear my secretions on my own so I require a machine known as a Coughalater that coughs for me and then I use a suction machine to clear out my secretions.
SMA is the number one genetic killer in children under the age of two. Doctors and hospitals now require women who are pregnant to get tested for SMA. This brings more awareness to SMA since it is very rare. There have been many times that I’ve been admitted to the hospital and nurses don’t have a clue what I have or how to treat me. It’s because SMA is a fairly new disease and many people are not familiar with it. It’s a lot of stress on my parents because most of the time, when you send your child who is not feeling well to the hospital, you only assume that the doctors and the nurses can take care of them the way they need to be taken care of. They’re supposed to get a break, not worry and trust that their child comes home healthy. Having SMA and not many people knowing what it is makes it scary for my parents to leave me alone at a hospital and hope that the doctors and nurses know what to do.
There’s a lot of things that I’m not able to do on my own, however having my Quantum® electric wheelchair with iLevel® and an Apple® iPad® allows me to participate in so many thing things that I wouldn’t be able to do otherwise. I am so grateful that this technology exists for me. Without these things, I would not be independent.
There is no cure available right now for SMA, yet many organizations are working hard to help find a cure. There have been a few drugs that have come out recently such as Spinraza, Zolgensma, and Evrysdi. These medications are used for anybody with SMA to slow the progression of the disease and potentially help build muscle strength. What some of these drugs do is they take the copy of the SMN-1 gene, which is known as the SMN-2 gene, and help it to work harder to take place of the missing SMN-1 gene.
I know this information is a lot to process. Since August is SMA Awareness Month, I hope I’ve shed some light on SMA and given people an idea of what it’s like to live with this disease.
About Sakina Shamsi: Sakina lives in New Jersey with her parents and brother. Although she has spinal muscular atrophy type II, Sakina lives a full and independent lifestyle. She is active in the disability community and enjoys horseback riding, baking and crafting. Click here to learn more about Sakina.