SMA News Today, having launched forums and added regular columnists, is now running a month-long series to coincide with Spinal Muscular Atrophy Awareness (SMA) Month that highlights the challenges and perseverance of patients and caregivers.
In one entry, Jaclyn Greenwood discusses “Employment and SMA.” Born with type 2 disease, a very young Greenwood dreamed of becoming a ballerina, a train conductor, or even a famous singer. She was a typical kid.
Naturally, her dreams evolved. She decided to pursue a genetic counseling degree. Greenwood earned a master’s degree in 2012 and became a certified genetic counselor. She set out to find a job in her field. As it turned out, the pursuit was fraught.
“Unfortunately, searching for a job with a disability can be challenging,” Greenwood wrote. “During interviews it often feels like the first thing potential employers see is the wheelchair, and they automatically question your abilities.”
Ultimately, she was offered work as a prenatal screening coordinator for the California Department of Public Health, where she worked earlier as a trainee. Despite myriad concerns, including whether she had the stamina for full-time employment, she accepted the position and is happy and flourishing.
In another personal account, Kevan Chandler talks about “Traveling with SMA.” The founder of We Carry Kevan, a nonprofit that seeks to redefine accessibility as a cooperative effort, Chandler once traversed Europe without his wheelchair. His friends carried him for three weeks in a backpack.
“Traveling is hard for everyone,” wrote Chandler, who has a bachelor’s degree in counseling. “Throw in a 400-pound wheelchair, a G-tube, a ventilator, or simply a lack of trunk control, and travel can seem downright impossible. But my friends and I have learned over the years that it is possible! It might be difficult, and it might get uncomfortable or require sacrifice, but it’s possible with creativity and teamwork.”
During these adventures, Chandler’s team toted its own ramps, and repurposed straps meant to hold Chandler upright during long flights. “Time and again, I step out of my safe home routine, and some might even say I flirt with danger by my choices of adventure. But my friends and I come together to think outside our boxes and experience the world in ways none of us have before.”
In “Things I Wish I Learned Sooner,” a woman known as Brynne discusses the importance of positivity and community. Growing up with a disability, she often wondered whether she would be able to achieve her dreams: becoming independent, working, attending college, traveling solo, and marrying and having a family.
“It wasn’t until I met someone with SMA doing all of the above that I realized I could,” Brynne wrote, adding that she used to avoid fellow patients. “In meeting her I realized I was perpetuating the limitations of my disability by choice. In this moment I learned having the wrong perspective surrounding your disability can be just as — if not more — disabling as the physical limitations you experience.”
Rather than what her disability has taken from her, she said she’s learned to ask herself what it has contributed. “Has it given you better time-management skills, increased resilience, patience, a deeper appreciation for life, meaningful relationships? Focus on these things to help nurture a positive outlook.”
In “Confronting an SMA Diagnosis,” Byron shares what it was like to learn that two of his children had the disease. “It’s March 19th, 2015 and I am standing in line to check out at the store, and my phone rings. My wife is on the other end, and for as long as I live, I will never get the anguished sound of her voice out of my head,” he wrote. A doctor had just confirmed that little Lucy Mae had SMA.
“I remember sitting at the dinner table that evening, numb from crying and feeling utterly hopeless. I was angry, hurt and lost.”
Two years later, Byron and his wife learned that a second child, Lincoln Nash, also had SMA. This time, thanks to his daughter’s success with the therapy Spinraza (nusinersen, by Biogen), Byron’s reaction was quite different. “Although there were grief and tears, the feeling of hopelessness was absent. Two SMA diagnoses, two different responses, all because of the grace of God in giving us men and women with the ability to create lifesaving drugs!”
Future “31 Days” topics will include adaptive fashion, marriage, mental health, adaptive driving, service dogs, and teenage years with SMA. Those wishing to present other ideas for the series may do so by sending an email using this link.
“There are so many different facets to living with SMA,” said Kevin Schaefer, BioNews Services‘ community development manager in multi-channel content and an SMA columnist. “Through ‘31 Days,’ we’re giving a wide range of people in this community a space to write about their daily lives, relationships, and other topics that are important to them. My hope is that by the end of August, people will read these stories and come away with a better understanding of what life with SMA is about.”
Affecting 1 in between 8,000 and 10,000 people, SMA is the most common cause of mortality in infants linked to a genetic mutation.
Other efforts are afoot during SMA Awareness Month, observed each August and coordinated by the nonprofit group Cure SMA. The organization’s campaign includes social media, awareness-themed fundraisers, government proclamations, story pitches to media, a community album, and even professional baseball.
At sunset on the month’s second Saturday — Aug. 10 this year — the SMA community traditionally lights candles in remembrance of those who died of SMA, and to honor those living with it. The organization suggests organizing a group for this event.
Pharmaceutical companies such as Catalyst are also lending support. The company is sponsoring the open-label pilot safety study (NCT03819660) of Firdapse (amifampridine phosphate) as a possible treatment option for ambulatory SMA type 3.
Firdapse is an oral compound that acts at the so-called neuromuscular junction — the spot at which a motor neuron connects to the muscle — by improving the signaling between a nerve cell and muscle cell. The therapy is thought to improve symptoms and possibly slow disease progression.
“We are proud to be part of the global movement to raise awareness of SMA, and recognize the importance of developing new evidence-based medicines required to improve the lives of patients, families and caregivers afflicted with SMA,” Patrick J. McEnany, Catalyst’s chairman and chief executive officer, said in a press release.
At BioNews Services, the parent company of SMA News Today and many other sites for people with chronic and rare diseases, efforts are broadening and will continue year-round. The patient forums are increasingly popular, and those for SMA include subforums where discussions touch on such life topics as dating and relationships, going to college, and disability portrayals in film and other media. Visit this site to register.
“The SMA News Today website has grown exponentially in the last couple of years,” Schaefer said. “Through daily columns, forums and now our ‘31 Days’ initiative, we want to make as many voices possible in this community heard.”
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