Diving in Against a Disease
APRIL 6, 1997
by KAREN HAYES, Globe Correspondent
Parents Go All Out Against a Genetic Disorder
When Sharon Terry took her daughter, Elizabeth, to a dermatologist for a slight skin rash on her neck, she expected the doctor to tell her to stop using inexpensive detergent. Instead, she was told her daughter had pseudoxanthoma elasticum, known as PXE - a rare genetic disorder that is incurable and weakens elastic fibers in the skin and blood vessels. It often goes unrecognized until adulthood and can a result in disabling vision loss, gastrointestinal bleeding, heart disease, and a shortened life. To make matters worse, she was told her son, Ian, also had the condition.
"We were devastated," Sharon Terry said. "I phoned Pat at work. At first I thought, they are beautiful children and they are going to have this disfiguring skin disorder. Then it sank in that their lives were being threatened. Suddenly, what we had always thought of as beautiful didn't seem so important anymore." "It being a genetic condition, one of my first thoughts was, we passed this along to them," said her husband, Patrick Terry.
In the two short years since that diagnosis, the Terry family has founded PXE International, a not-for-profit all-volunteer organization that has become something of a model for patient advocacy. Although little is Known about the disorder, which affects between 1 in 25,000 and 1 in 100,000 people, the Terrys' efforts on behalf of Elizabeth, now 9, and Ian, 7, and others around the world with PXE have resulted in strides far beyond those of other grassroots support groups.
"The difference is Sharon Terry. Through her energy and through her knowledge of the Internet, she has made information about PXE widely available," said Dr. Lionel Bercovitch a dermatologist who is also on the faculty of Brown University Medical School and chairman of the PXE International medical advisory board. "It is incredible how quickly this thing developed... What she has done is absolutely astounding. I have never seen anything like it."
In addition to setting up an international PXE headquarters in a former playroom of their Sharon home just months after their children's diagnoses, along with launching a newsletter, the Terrys have:
- Initiated and funded three research projects, including a $10,000 grant awarded to the Jackson Laboratory in Maine for a project that would look for PXE in mice to further scientists" understanding of how genes work in humans. ·
- Organized an international medical symposium on PXE, which will take place this November in Bethesda, Md., cosponsored by the National Institutes of Health. The Terrys estimate the total cost of the symposium at $60,000. ·
- Established a registry of 600 affected individuals worldwide. · Established a blood and tissue registry at Harvard University, for the purpose of genetic research. Any researcher in the world can apply to use the bank to work on projects that might one day identify PXE genes.
- Opened 27 PXE offices around the world.
- Established an Internet site sponsored by Harvard University.
- Formed alliances with other patient advocate groups to coordinate efforts in combating ailments relating to the eyes, skin, heart, and other areas often affected by PXE.
Much of the cost of these projects, along with travel expenses to medical conferences across the nation and to Washington to lobby Congress for funding, gets tacked on to the Terrys' credit card bills. The family has also garnered extensive community support in the form of several fund-raisers. Last weekend, the Sharon Recreation Department swim team raised $7,000 for the cause through a swimathon. Elizabeth and Ian, both swim team members, joined the effort. Their parents encourage swimming because there is little danger of injuring their eyes, as in some other sports, and because it builds cardiovascular health. Because there is no specific treatment for PXE, doctors, such as Bercovitch, prescribe preventative therapies, such as low fat diets and exercise to prevent heart disease, and regular eye exams. A team of medical professionals, including a dermatologist, ophthalmologist, cardiologist, vascular surgeon, genetic counselor, and nutritionist, are often required.
In an unexpected turn of events, Peter Colaneri, a well-known community member who has taught athletics to Sharon area children for 16 years at the Sports Club and runs the Oak Hill Country Day Camp in Foxborough, recently wrote a letter to a local weekly newspaper to say that he has PXE, something he has kept quiet about for four years. Colaneri, who is 41, has lost all vision in his left eye. Now Colaneri is on the PXE International database and receives its newsletter.
"When I saw the article in the Advocate, I had basically no one beside my family who knew about it," he said. "That was probably because if you mentioned PXE, no one's going to know what it was." Sharon Terry estimates she puts in 60 hours a week on PXE work, taking calls from around the world 24 hours a day. She also homeschools her children, serves on the board of the Sharon Alternative School and works as an educator at Moose Hill Wildlife Sanctuary and at Boston's Museum of Science. Patrick logs about six hours daily, along with managing a construction firm in Hingham and volunteering for the town Recreation Department and for a Harvard genetic study conducted at the Brigham and Women's Hospital one night each week. They squeeze in sleep between 2 and 6 a.m.
"We see another 100 things we could be doing, but we don't have the time," Sharon Terry said. "We are trying to delegate." "We just don't do normal things like watch TV or wash laundry," Patrick Terry said. "Something's got to give."
Elizabeth helps out college interns and high school community service volunteers in the PXE office. Since their diagnoses, Elizabeth and Ian have become extremely knowledgeable about their conditions, often helping their parents out at medical conferences.
"I really didn't know if it would affect me or not," Elizabeth said of PXE. "I've learned a lot since then. I've learned a lot of really big words."