Patient Shows Resilience, Strength Through Competitive Swimming
By Mary Daum
When Lucy Gilmore was a toddler, she began experiencing bone fractures very easily. Mishaps like falling off a tricycle that would result in only scrapes and bruises in other children caused her bones to break. The family's pediatrician in Radford, Va., referred the family to an orthopedist who immediately knew something was different about Lucy's bones. At the age of 3, Lucy ended up in the office of a pediatric endocrinologist who diagnosed McCune-Albright syndrome (MAS) with fibrous dysplasia of bone.
Almost unheard of 20 years ago, MAS is now being recognized as more and more people come forward with symptoms of this rare, or rarely reported, condition that can include areas of weak bone, patches of light brown pigment on the skin and endocrine irregularities such as precocious puberty. The gene mutation that causes MAS, discovered by Dr. Lee Weinstein and colleagues at NIDDK, takes place after the egg is fertilized and cell division begins, so only some cells carry the defect. These cells can end up at sites that form the skeleton, areas of skin and various endocrine glands.
After receiving the diagnosis, Lucy's mother, Mary Gilmore, began putting out feelers about where she could find information on the disorder and help for her daughter. Someone suggested NIH.
"I hadn't heard of NIH, but it was recommended as the place to go, so that's where we went," she said.
As a toddler, Lucy was enrolled in a study on the endocrine disorders of McCune-Albright syndrome. Now age 16, she has been a participant in MAS studies at NIH for more than 13 years. Currently, she is taking part in an NIDCR study on bone problems associated with the syndrome.
"It's interesting that when NIH researchers first began studying the disease, the focus was almost exclusively on its endocrine aspects," said Dr. Michael Collins, Lucy's physician, who is a clinical investigator in NIDCR's Craniofacial and Skeletal Diseases Branch. "But the patients who came in were in wheelchairs or on crutches, and it became obvious that the bone defect was causing the most problems on a day to day basis for these patients," he said. "That was one of the compelling reasons for starting our study."
The NIDCR-led study is a collaborative effort whose partners include NICHD, NIDDK, the Clinical Center, Dr. Shlomo Weintroub, an orthopedist from Israel's Tel Aviv University, and Dr. Paolo Bianco, a pathologist with Universita dell'Aquila in Italy. Its goal is to provide a comprehensive picture of the bone defect related to MAS and to offer treatment options to the patients. The study evolved from research conducted by Bianco and Dr. Pamela Gehron Robey, chief of NIDCR's Craniofacial and Skeletal Diseases Branch, who have collaborated for the past several years on studying bone samples from patients with MAS.
One objective of the current study is to compare the drug alendronate to a placebo, the first time such a comparison has been made in MAS patients. Alendronate, currently on the market as Fosamax and used by patients with osteoporosis, may slow down or repair areas of affected bone and help prevent fractures, the researchers say, potentially alleviating the debilitating bone problems associated with the syndrome.
The bone problems were, in fact, what precipitated Lucy Gilmore's foray into swimming, which is now a large part of her life. "At about the time Lucy was 7 years old, we were searching around for an activity that was safe for her," said her mother. "Swimming seemed like the natural choice." Since that time, Lucy has blossomed into a competitive swimmer who has participated in numerous meets as part of the SouthWest Aquatic Team, which is based in her hometown of Radford. The 150-member team, registered with USA Swimming, participates in YMCA and USA meets. Lucy is the only disabled athlete on the team and competes year round with able-bodied swimmers.
Lucy's dedication to the sport can seem extraordinary to an outsider. In 1998, at the World Swimming Championships in New Zealand, she jumped into the water and fractured a bone in her leg. She swam anyway and placed eighth in the world in the 400 meter freestyle. Didn't it hurt? Lucy nods but just shrugs when it's suggested that it took a lot of guts to continue. Neither her physician, nor her mother, was surprised by this event. Said Collins, "That's just one example of her tenacity and determination that we've seen all along."
Outside of her swimming career, Lucy's lifestyle is fairly typical for a teenager with school, three siblings and a dog. But the school-and-swimming routine is interrupted twice a year when she and her mom travel to NIH. "Actually, we look forward to it," says Mary. "It gives us a chance to be together, to shop and to do other activities." The best thing about it for Lucy? "I don't have to go to school," she says laughing. As is customary in a study, her visits to NIH are spent giving blood samples, talking with her physician about the disorder and discussing possible treatments for the future.
The researchers are currently trying to perfect a technique for replacing affected bone with normal bone that might offer patients with MAS a new treatment option. "In the case of MAS, bone marrow, which contains the bone stem cells, will be taken from the patient's healthy bones and grown in the laboratory to increase their numbers," said Gehron Robey, the study's principal investigator. "These cells can then be used to repair the affected bones. We're hoping to be able to try this treatment soon."
Asked if the bone marrow transplant might be an option for Lucy, Mary Gilmore says they would consider anything that might benefit her, but would also "have to think about the usual risks and the rehabilitation time."
As for Lucy's swimming career, she will train for the next 4 years with the goal of joining the 2004 Paralympic swim team. The Paralympics are for elite athletes with disabilities and follow the Olympics in the same host city. Lucy swam in the Paralympic trials this year and, although she did not qualify for the team, she achieved personal best times in all six of her events and won one silver and two bronze medals. "She trained so hard, and raced so hard that, sure enough, she injured her right arm. But that didn't stop her from competing," says Mary Gilmore. "She gave more than I thought she had to give, and that's why she's my hero."
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