Living with limb-girdle muscular dystrophy type R9 (LGMD R9)*, Wichita, KS
“…the first time I was told I had a rare form of muscular dystrophy, it was a profound moment. I wanted to know more, but they said they had no more information than the diagnosis.”
Meet Lisa with open arms
“Jim! I need a hand.” Lisa calls out. Jim is in the kitchen pouring himself a glass of seltzer. He puts down what he is doing––as he always does––when she calls out for him. As he walks over to her, a flirtatious smile spreads across his face and his eyes soften. Lisa cannot stand up from a chair on her own, and Jim uses these frequent opportunities to wrap his arms around her in a loving embrace as he lifts her. She throws her head back as she rises, and they kiss as she finds her balance. Wrapping her fingers around her walking stick, her gait is marked by a sideways shift in weight. She slowly makes her way to the fireplace where she is eager to show off the Mexican folk art that she and Jim have collected over the years from their travels.
Lisa lives with a rare genetically-inherited condition that causes muscular weakness and atrophy. Serious complications can include developing a weakened heart and difficulty breathing. Despite the need for a walking stick and occasional use of an electric scooter for errands, like grocery shopping, Lisa leads an active life working as a part-time pharmacist, pursuing a masters in economics, and volunteering for and hosting musicians from the Wichita Symphony Orchestra.
A “klutzy” teen
LGMD R9 has affected Lisa for her entire life, although she was unaware of her diagnosis until her thirties. “As a kid, I just thought I was a klutz,” she says. “I was always tripping and falling and I didn’t know why. Once in high school I fell while performing with the marching band. In the yearbook they jokingly named me ‘Walks with grace.’” During these adolescent years, Lisa maintained a positive attitude on the outside, but inside she felt embarrassed and humiliated. The seed of a question began to form inside of her. What is wrong with me? “There was always this weakness,” she explains. “I couldn’t run. I waddled when I walked.” Normal physical activities left Lisa fatigued with muscle cramps and pain. The doctors told them she just had “growing pains.”
A career of finding answers
Perhaps inspired by a desire to understand her medical issues, Lisa was drawn to become a pharmacist. “I liked how orderly science was. There were answers.” Her study of medicine dovetailed with her growing passion for pursuing a proper diagnosis for herself. She persistently sought out the latest medical research––reading about various medical disorders that matched her symptoms, pouring over articles, and gathering bits and pieces of information from scientific studies. Over time, however, she hit a wall of frustration. There were so many diseases that caused muscle weakness. Her doctors were stumped as well. The only potential clue she had was that her liver enzymes were elevated. “They thought there was something wrong with my liver,” she says, “but that didn’t explain the muscle weakness.”
Despite her frustrations and increasing physical challenges, Lisa’s professional and family life blossomed. Her marriage to Jim, an emergency medicine doctor, was a love story filled with promise and big dreams––together they would build a family, buy a house, and travel. With his parallel interests in science and medicine, Jim became Lisa’s partner in seeking a diagnosis. “The first big step was when we went to an internal medicine doctor in Arizona who suggested that the elevated liver enzymes may be due to muscle breakdown,” Jim says. The doctor suspected that Lisa had a common type of muscular dystrophy called polymyositis. However, she was wary of the doctor’s treatment protocol. “They wanted to put me on chemotherapy,” she says. “And treat it like an autoimmune disease. But I refused. I wanted to get pregnant. And the diagnosis still didn’t make sense to me. I intuitively felt there was a piece of missing information.”
The lightbulb goes off
Soon after the diagnosis Lisa and Jim moved from Arizona to Vermont, as Jim had a new job opportunity there. It was a thrilling time for their family––Lisa was pregnant and they immersed themselves in a new community. Lisa’s gynecologist suggested she see a specialist because of complications that could arise giving birth with (what they still believed was) polymyositis. “It was in the middle of a snowstorm. I went to see a neuromuscular fellow in Vermont. They performed an electromyography, which involved inserting needles into the muscle of my leg to measure muscle activity. That was the first time I was told I had a specific and rare form of muscular dystrophy called limb-girdle. I was there myself, and it was a profound moment. I wanted to know more, but they had no more information than the diagnosis.” She rested her palms on her growing belly and watched snowflakes falling quietly over the landscape that was her new home. Things felt like they were coming together. “This was the first ‘aha moment,’” she says. “A real diagnosis. I said to myself, ‘Finally! This makes sense!’” After many years in the dark, the diagnosis was some measure of relief.
Lisa gave birth to her second child and in her spare time between parenting and working, she read medical journals so she could keep up to date with the latest research in anything that might be related to LGMD R9. “I found a man named Jerry Mendel who was the guru of gene studies at the time,” she says. “I called up his office and told them I wanted to be in their study.” She laughs at her boldness in making such a direct request. For the first time, there was excitement on the horizon. What if gene therapy could cure her? She flew to the University of Ohio herself and was disappointed when they told her she wasn’t a candidate for the study because the exact type of LGMD she had was unknown. However, they offered to send her genetic tests and muscle biopsy to the University of Iowa where a team of researchers were paving the way in limb-girdle research. Lisa was skeptical about their intentions. “I thought, ‘Yeah right. My biopsies will go into a freezer, and I will be an anomaly forever’.”
Falling into despair
One day, while shopping in New York City, Lisa’s worst nightmare occurred––in the pedestrian crosswalk on a busy street, she tripped and fell. Amidst the hustle and bustle, none of the other pedestrians stopped to lend her a hand. “I couldn’t get up on my own,” she says. She heard the blaring siren of a firetruck in the distance, turned her head toward the sound, and saw the truck careening in her direction. “I thought––this is it. I’m going to die.” The truck came to a screeching halt. A fireman jumped out and carried her to the sidewalk. He then took off, barely wasting a moment. It was a close call––too close––and Lisa could no longer shake the fear of what life-threatening situations her disease could place her in. She felt devastated by the fall and began using a cane, a scooter, and a handicap placard for her car. She had become weaker than ever, and it sent her into a tailspin of worry unlike anything she had experienced.
Five years later, in the midst of a deep depression regarding her pain and inability to enjoy activities with her kids, she received an unexpected phone call. Someone at the University of Iowa had gone back through all of the lab’s archives, stumbled upon her file, and connected it to a newly discovered type of LGMD known as LGMD R9. There was excitement on both ends of the call. The researcher who made the discovery and Lisa were overwhelmed with joy that there was finally a definitive diagnosis – an answer to the mystery that had eluded her for so long. Jim had recently gotten his pilot’s license and together they flew to the University of Iowa to meet the researchers.
The power of an embrace
“Meeting with the researchers was amazing,” she says. “They showed me my muscle cells under a microscope and compared it to normal muscle cells.” She learned that LGMD R9 can cause heart and breathing complications along with muscular weakness seen in other types of muscular dystrophy. At the meeting, the researchers introduced Lisa to someone else with LGMD R9. “It was the first time I had ever met someone else with the same condition. We were both older, we were moms, and when we met we both started crying. We shared our stories of living our whole lives with nothing making sense.”
In the midst of the emotional outpourings, the researchers felt compelled to share with Lisa information about her diagnosis. “This was the second ‘aha moment,’” she says. They explained to her that she had some good fortune––that some people with LGMD R9-related genetic diseases do not make it past infancy and others suffer severe muscle weakness and cognitive issues, depending on which mutation they have. “You’re probably not going to die from this,” they told her. Lisa considered her situation. She could still walk, and she could manage her pain with acupuncture. A feeling of gratitude spread throughout her body like an unexpected wave. However, they also told her that she needed to monitor her heart, something she had never considered. “They told me to get myself over to a cardiologist, and I learned was in congestive heart failure. I have improved with medication. But it’s something I need to take care of and watch.”
After what felt like a lifetime of searching and waiting, Lisa had her answer. Ironically, she says that she misses the time before she knew about LGMD R9. “Before I was diagnosed, I didn’t worry because I had no reason to. Now I worry about everything…falling, my heart, what my future looks like.” Jim wraps his wide arms around her as if to say, “I’ve got you.”
He then lifts Lisa up in the loving embrace they use to connect several times a day. “Come look at our wedding vows,” he says. Together, they walk over to the vows which are handwritten and framed on the wall. They speak to their values of respect, kindness, and honesty. Perhaps most importantly, they speak about care––a promise to take care of each other for the rest of their days. Next to the vows is a framed picture. A younger Jim embraces Lisa in her wedding dress as she leans back in a romantic dip. Jim and Lisa have been holding each other ever since.
*Also referred to as LMGD 2I