From The Daniel Island News|
Counting her Blessings: Islander lives with Friedreich's ataxia
By Kate Maas
Jan 2, 2013 - 8:49:23 AM
|Bridget enjoys a beautiful day on Daniel Island with a good friend.||
|As a child, and as an adult, Bridget always finds time to be active!|
|Bridget teaches kindergarten in Berkeley County.||
|Bridget celebrates her birthday with best friends.|
|In this photo from 1991, Bridget poses with her mom Marilyn, dad Terry, and brother John.||
With the start of the new year, it’s the perfect time to count your blessings. But if you’re having a hard time thinking of all the good things in your life, Daniel Island resident Bridget Downing is sure to give you some great inspiration. Bridget, a twenty-six year old Berkeley County school teacher, has Friedreich’s ataxia, a rare medical condition that not only makes it difficult for her to walk, but impossible for her to run, dance, or even jump for joy, activities that most of us take for granted. Yet Bridget may be one of the most positive, upbeat and high-energy people you will meet on the island—or anywhere for that matter. Despite her physical challenges she readily insists, “Life is really wonderful.”
Friedreich’s ataxia (FA) is a debilitating, life-shortening, degenerative neuro-muscular disorder, caused by a rare gene mutation that limits the production of a protein in the mitochondria—the energy-producing factories in our bodies. About one in 50,000 young people in the United States has FA—and many of them do not live to see middle age. Symptoms usually begin to manifest in a child between the ages of five and fifteen, and often include progressive loss of coordination and muscle strength in the arms and legs leading to incapacitation and, ultimately, full-time use of a wheelchair by the time the person is twenty years old. Other common symptoms are energy deprivation, slurred speech, vision impairment, hearing loss, aggressive scoliosis and diabetes mellitus.
Typically, both parents must carry the FA mutation in order for symptoms to manifest. In Bridget’s case, her FA is genetically different due to a point mutation and so her symptoms are not as severe. This makes her condition even rarer, as only 4% of those with FA have a point mutation. This minimizes many of the more severe symptoms of the condition; in Bridget’s case, she’s lost the ability to walk unassisted. She is immensely grateful that she suffers from none of the other more severe complications. Both Bridget and her parents, Marilyn and Terry Downing, are also grateful for the fact that, despite the frequency of FA as a sibling-shared disease, brother John Downing, two years Bridget’s senior, has been completely spared.
Bridget reflects that symptoms of the disease began showing up when she was about eight years old. Inexplicably, she began to lose her balance and fall down. She also complained about feeling tired. Bridget’s mother, Marilyn Downing was perplexed by her daughter’s strange behavior. “We were always such an energetic family,” she says, “always on the go. I didn’t know what to make of the fact that Bridget didn’t want to go skiing, or swimming or even go for walks anymore.”
Bridget’s irregular gait became more pronounced over the next several months. “By the time she was nine, we knew something serious was going on,” reflects Marilyn. “It was time to take more serious action.”
Doctors in their hometown of Buffalo, in upstate New York and then, in nearby Rochester, began lengthy series of tests, but could find no medical reasons to explain Bridget’s symptoms. “One doctor even went so far as to suggest that I was acting out ‘for attention,’” recalls Bridget. “The doctors were looking at every possible explanation for my symptoms,” she points out. “Except Friedreich’s ataxia.”
But Marilyn began doing some research on her own, looking for answers. Friedreich’s ataxia was just one of the many diseases with symptoms that were similar to those that Bridget displayed. Marilyn attended a medical conference on FA and heard a presentation of a research paper on a family with Bridget’s point mutation. She immediately knew that her daughter had that FA point mutation. A highly knowledgeable medical team at Ohio State University in Columbus finally confirmed Marilyn’s hunch.
The Downings began to reach out to other families of kids who have FA.
Marilyn met with them and, together, in 1998, they started the non-profit Friedreich’s Ataxia Research Alliance (www.curefa.org), raising over twenty million dollars for research since inception. Today, through a multitude of fundraising walks and cycling events (www.rideataxia.org) across the country, FARA continues to spread awareness about Friedreich’s ataxia and raise the money to fund the extensive—and expensive—research into possible cures.
“FA is such a rare disease,” points out Marilyn. “There are so many promising drugs in the pipeline, but there are obstacles.”
One of those obstacles is a risk-adverse FDA. “Despite the challenges, we still have a lot of hope,” she says.
Bridget gamely admits that she herself was never really worried about how FA would affect her life. She says, “The disease was much harder on my parents—they knew what the future held for me.”
Bridget reflects that the onset of the symptoms was less traumatic for her. “When I was being tested, all my friends would visit me in the hospital and I got presents every time I went to the doctors.”
The very slow progression of the disease allowed Bridget to more easily adjust, physically and emotionally, to the loss of strength and control in her legs and feet. She points out that she was able to walk independently, if indeed with great effort, until her junior year in high school.
“The hardest part about FA,” Bridget reveals, “was not being able to wear shoes. In eighth grade, I tried to go to a wedding wearing fancy shoes, but I just couldn’t. I was so upset, I practically cried.”
Good friends quickly rallied to the cause. “Since Bridget had to wear sneakers to the high school dance,” recalls Marilyn Downing, “all her friends wore their sneakers, too. What better friends could she possibly have?”
“I do have very supportive friends,” agrees Bridget, “who have been there for me ever since kindergarten. They walked me to every class every day—even across the stage for graduation.”
Long-time friend Caitlin Lenahan speaks for many in this close-knit group: “There was never a conscious decision to support Bridget when she couldn’t walk. We did whatever it took to support her.” Caitlin adds, “Bridget has always had a very positive attitude, even with all these obstacles in her life; she just doesn’t let them affect her.”
Even with her positive outlook, Bridget faces challenging moments, especially when travelling with her special upright scooter, popularly known as a Segway. Bridget explains that she uses a Seqway, instead of a regular seated scooter, to more easily maneuver into smaller spaces - and to strengthen her leg and foot muscles. “Had I been in a wheelchair all these years, I wouldn’t be able to stand up or do any kind of limited walking like I do now.”
While the pros of the Segway outweigh the cons, Bridget admits that traveling with it can be difficult. “I’ve gotten kicked out of stores—and have even had trouble at airports when I’m on it. It’s even a struggle just to bring it on the airplane when I fly home. The good news is that Segways are slowly beginning to be accepted as mobility devices for the disabled.”
Bridget points out another problem with riding the Segway: “Since I don’t look disabled, people think I’m being lazy when they see me on it. I always hear ‘Hey, why are you on a Segway?’ or ‘Daddy, how come that girl is on a scooter?’ Then I have to pull out the handicap sign, which I don’t like to use much. Almost everywhere I go out in public, I have my guard up.”
Daniel Island, however, is one place Bridget feels she can relax. “The people who live here are much more thoughtful and polite. It’s easier to shop on Daniel Island because I know people aren’t going to be rude. I think residents and shopkeepers alike are becoming more used to seeing me.”
Residents will likely run into Bridget and her friends at favorite restaurants, like Daniel Island Grille, Wasabi, Vespa and Sermet’s—and of course the new ice cream parlor, Hokey Pokey. “Elephant Tracks is the most amazing ice cream flavor ever invented,” she smiles.
After graduating from Elon University in North Carolina, Bridget realized that she loved the South and wanted to stay here. “The icy winters of upstate New York are just too difficult for me,” she points out. “Charleston just seemed like the right choice,” she says.
I really love it here.”
After graduating from College of Charleston with a degree in education, Bridget took a substitute teaching assignment in a kindergarten classroom. “I never thought I wanted to teach really little kids—but working in that classroom,” Bridget recounts, “I just fell in love.” She quickly landed a job as a K-5 teacher with Berkeley County at Sangaree Elementary School in the Fall of 2011. “I know some people think it’s crazy that I teach,” admits Bridget, “But I enjoy it and I make it work.”
Theresa Denholm, a K-5 teacher at Sangaree Elementary School, who works closely together with Bridget, says of her co-worker, “Bridget is a very strong person. She is incredibly valued by the whole school community, students and staff alike. No one ever questions whether or not she can get the job done.”
“It’s truly amazing how much Bridget does,” observes Marilyn Downing, “especially considering that one key symptom of FA is energy deprivation. Bridget rarely ever complains of being tired. She just keeps going!”
“As a child, Bridget once admitted to a store Santa, ‘Well, I was a little bit bossy this year!’” reflects Marilyn with a chuckle. “It was probably in her interest that she started out so strong, and remained that way, because the disease can really, really knock you down a few pegs. Yet, Bridget’s attitude always remains, ‘If life gives you lemons, make Sangria,’” says Marilyn.
Bridget herself points out, “My life is great. I live in a beautiful place. I have a lot of wonderful friends and a great family. I am really blessed.”
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