Living with Limb-Girdle Muscular Dystrophy Type 2I
Medford Lakes, NJ | Born May 2000
I want my struggle, my life, to be a conversation.
Ayla scans the rows of books, searching for her next read. It’s something that seems to get harder each time. As Ayla continually chews through the tomes on her bookshelf, she is running out of new titles and running out of space. She has a whole section of Jane Austen books; she has read all of her works minus one. “I am putting off reading the final book,” she says, trying to elongate the love affair with her favorite author just a little bit longer.
Ayla’s eyes return to perusal. The battle between fiction and nonfiction ensues—popular science versus science fiction. Especially during her long days of recovery in the hospital, she would read almost anything that came with a recommendation. She runs her fingers gently over their spines until her hand falls on the one she’s looking for. She carefully removes The Clan of the Cave Bear, by Jean M. Auel, from the shelf. The colorful cover remains intact, a testament to the care by which it has been handled whilst being handed down through four generations—starting with Ayla’s great-grandmother.
“I haven’t finished it,” admits Ayla. “I’m a little upset about that.” Ayla’s disquietude is understandable—she was named after the book’s protagonist. The pre-historical novel, the first of the six-book Earth’s Children series, is set approximately 30,000 years ago and follows the life of an early homo sapiens girl named Ayla. She is orphaned after a large earthquake, but survives for several days on her own. A clan of Neanderthals find her and take her into their ranks despite the fact that she is unlike them in so many ways. Ayla faces numerous challenges due to her physical differences, some of them gruesome and violent, but also gains possession of virtuous gifts which she shares with the clan, awarding her social status.
For Ayla, the parallels between her and her namesake are more than coincidental. “I didn’t know if that was going to be my story too,” she confides. “In the story, she’s a strong person who somehow survives through all this stuff.” For now, Ayla places the book back in its special spot, although soon she knows she will pick it back up—she must. “I haven’t been ready to deal with that kind of adversity in a book which is so important to me.” She doesn’t want the act of reading the story to upset the equilibrium, sometimes delicate, that she has attained as a young adult living with her own “different” physical characteristics and abilities.
Modern-day Ayla has had to persevere through an internal earthquake of sorts, one wrought by genetics. She lives with limb-girdle muscle dystrophy type 2I (LGMD2I), a degenerative neuromuscular condition that primarily weakens her shoulders and hips. A recessive mutation of the FKRP gene leads to type 2I, and the disease varies considerably in severity as well as onset of symptoms, but features a slow, progressive decline of strength, balance, and mobility—moving from her proximal muscles to more vital ones.
Diagnosed at age 10, Ayla has learned, through experience, how to negotiate the nuances and complexities surrounding her disease—both physiological and societal. Her relationship with her body as well as to those around her is anything but simple, and requires near constant work. “People with disabilities are good problem solvers,” she says. “We get used to navigating things each day.” Whether finding solutions to common mobility challenges or people’s attitudes toward disability, Ayla is beyond surviving, she is thriving.
Ayla spent most of her early years matching her peers in some milestones, while surpassing them in others. She read her first book by Dr. Suess at two years old and excelled at school. The suburban confines of Medford Lakes, New Jersey, provided a comfortable backdrop, safe but full of activities for families.
Situated on a nearby lake, a youth summer camp hosts many fond memories for Ayla. Along with her younger sister and brother, Ceara and Gage, she attended camp for years, while her siblings later went on to work there as counselors. Ayla loved swimming and bicycling around the large lakefront grounds and neighborhoods. However, sometimes after exerting herself, she would get bad charlie horses that forced her to stop and sit out. Other times, she would push through the pain, determined to keep up with the other kids. What started as a subtle inconvenience, however, grew into a life-changing transition.
After first complaining of the charlie horses to her doctor at age eight, an investigation began into their cause. The possibilities were vast, and slowly the signs became less innocuous. Ayla’s creatine kinase (CK) levels were elevated, which prompted testing for neuromuscular disease. After a long process of genetic testing, she was diagnosed with LGMD2I at 10 years old.
As Ayla entered middle school, she had to manage the emotions, thoughts, and worries about what having limb-girdle would mean in the face of other adolescents. “I dealt with stuff one thing at a time and only when I was ready,” she says. Ayla has always taken an active role in her own mental health. Within a year following her diagnosis, her parents divorced, and her father left the family’s home. At 13, her deteriorating relationship with her father was compounded by her first major physical setback—a severe leg cramp that left her unable to walk for a week.
“I started to think that everything was going downhill,” she recalls. “I got to the point where everybody could see I was unhappy. My mom was like, ‘Do you want to see somebody?’ At first, I said no. Then, I actually thought about it. I needed someone else to help me do all of this.” Ayla began talking to a therapist once a week, which is where she was able to start to process the emotional and psychological impact of her diagnosis. “I hadn’t dealt with it up until that point.”
Opening up to her therapist enriched Ayla’s life and equipped her with useful tools for managing her mental health. As a young person forced to make difficult decisions due to her disease, having a support system in place was now essential. She quickly found that the more she tried talking about her life and her illness, the easier it was to deal with the moments of emotional disarray. “I want my struggle, my life, to be a conversation,” she says. With proper support, Ayla wielded her strengths, guided by her strong senses of logic and critical thinking, to manage the progression of limb-girdle.
The blue wheelie-backpack sported Ayla’s name sewn on in bright pink letters, but that wasn’t what grabbed her classmate’s attention. As the wheels glided smoothly down the middle school's hallways, Ayla stood out—she was different. Not “disabled,” just different. She was torn over her predicament. On one hand, the backpack made her life easier, and on the other, a social vulnerability crept in. “It was very weird,” she ruminates. “Suddenly I was not grouped with everybody else. Suddenly, I was in this lone category. I didn’t know anyone who was like me.” At times feeling isolated, Ayla was hesitant to talk about her condition and kept many of these feelings to herself.
Looking back on those days of social ambiguity and the use of a wheelie-backpack, Ayla’s first assistance device, she reflects on this early transitional time, which hinted at many of the challenges she would soon face. Throughout high school, walking, especially long distances, became difficult. Her neurologist recommended that she get a mobility scooter. Ayla first had a knee-jerk reaction to the idea—using a device so indicative of being disabled. Ultimately she came around, and the summer before her senior year of high school, acquired a scooter.
“I owned it for a year before ever using it actually. The first place I took it was the mall,” says Ayla. The anonymity of the large public space seemed safer, less controversial than among her peers at school. She started using the scooter when it was convenient for her—it really helped her muscles. “Once I got the scooter, I didn’t have to explain anymore,” recalls Ayla. What for middle school and most of high school was an almost invisible condition, now was a conversation-starter. “At first, the scooter represented so many scary, horrible things,” she reflects. “And then it became a great thing for me.”
Today Ayla owns many assistance devices. Her house is equipped with a stair lift, she uses a walker, a scooter, a claw to pick up things she can’t reach, and recently she had adaptive controls installed into her car. Ayla uses the devices when she needs them, as her physical strength can vary considerably day by day. “There are still days where I don’t want to walk, and there are days I don’t want the scooter,” she says. A bad night of sleep, a head cold, or sometimes for no apparent reason, she will find herself unable to complete mundane tasks. These days are tough, but Ayla has learned not to push her body to do something it doesn’t want to. “I think of my body not as separate from myself, but I treat myself with as much compassion as I would someone else.”
Harnessing this self-compassion has inspired her friends and family, who know well the difficulties Ayla lives with. “She has a really unique skill,” says Cherie, her mother. “She’s a fantastic listener. She listens with an open heart and an open mind. She’s taught me so much.” “She’s our little ambassador,” adds Allida, her grandmother. “She’s always been open and free to everyone—honest and caring. To have this happen to her is mind-blowing, devastating, but she handles it extremely well.”
Ayla moves quietly through the house, careful not to wake her grandmother while she’s resting in preparation for her night shift as an ER nurse. A multi-generation household, full of comings and goings, Ayla’s family remains busy. Ceara and Gage both balance work and school, yet often make time to share laughs and meals together with her. Meanwhile, Cherie works part-time as a medical coder, and part-time for her daughter.
“I pay my mom through Public Partnership to help me do stuff,” says Ayla. The arrangement was brokered through the national organization, which helps caretakers get paid for working with family members and friends with disabilities. “It’s funny. She calls me ‘boss’ sometimes… But I don’t know what I’d do without her.” Her mom’s extra wages are helpful to the family’s financial situation.
Ayla’s steady presence at the home establishes a strong sense of calm to an otherwise hectic turnstyle of activity. “I’m here now most of the time,” she says. Finding stability in her life has been no easy task, but one whose effects ripple out to those who know and care about her. It also makes getting out of the house that much more fun.
Ayla rotates the knob affixed to her steering wheel as she pulls into a parking space outside a local restaurant and pub—a favorite now that she’s turned 21 . She carefully lowers her scooter out of the trunk. Ayla assembles the scooter before zipping off toward the entrance, hungry for a meal after an eventful day.
She’s led by the hostess through the bar and main seating area out to a table on the patio where her mom is already waiting. As Cherie sees Ayla approach she smiles proudly at her daughter’s newfound independence and the two launch into conversation as naturally as close friends. Ayla is searching for a summer internship. Last summer, she had the opportunity to intern at an adaptive lab run by a scientist at UPenn who lives with a disability. The experience helped expand Ayla’s almost limitless horizons. “I want to work in environmental science,” she says.
All of these steps amass toward Ayla’s ultimate goal: to achieve adult independence. “I’d like to live in an apartment by myself, hopefully soon,” she says. Cherie, always supportive, nods encouragingly. There will be challenges for Ayla to live alone, as well as ones introduced by her absence around the house. “She will be a great leader in whatever she chooses to do,” says Cherie. “She brings a lot to the table.” With joy and wonder Cherie is watching her oldest child grow into an intelligent, influential young woman. “Because of her disability she’s been forced to be more open,” she adds. Ayla's ability to transcend difference, find common ground, and provide support to others is a gift to those around her and a valuable tool for helping to mold a more vibrant and tolerant society.