Advocacy Begins at Home
FEBRUARY 28, 1997
by GAIL McCLELLAND FENTON, Correspondent
Last year, when Ian Terry was 6 years old, he sauntered into a crowd of doctors at a major medical conference in Boston, handed them a page of information, and asked, "Are you familiar with PXE?"
One of them laughed, and said, "Yes, I am. Are you?" Ian tugged his collar away from his neck to show them a tiny but tell-tale rash. "Yes," he said, "I have it. See?"
His sister, Elizabeth, explained why her family kept going to medical conferences. "My parents are working so my brother and I won't go blind," she said.
Two years ago, when both their children were diagnosed with pseudoxanthoma elasticum, or PXE, a rare genetic disorder which can cause blindness and other serious problems in adulthood, Sharon residents Patrick and Sharon Terry did what anyone else would do. They cried, they talked to friends, they planned a dream vacation, and they sought information.
Then they did what hardly anyone else could do. They established a complex and effective international organization to advocate for those with PXE, and they did it within two years of the diagnosis. Now, their home is the headquarters of PXE International, which has 35 offices worldwide. Sharon is the President and Patrick is the Chairman of the board. They do most of the work.
In any given afternoon, Sharon may e-mail a proposal to a researcher in Philadelphia, talk on the phone with a physician in Switzerland, and turn on her telephone answering machine to hear a woman say, "My sister has just been diagnosed with PXE. Can you help?"
Many afternoons, community service interns, college students and friends arrive to help out at the PXE office, which used to be the Terry's playroom. They review legislation, edit summaries of medical research, and chat with Elizabeth and Ian, who race through the house with a pack of friends and a six-pack of "beanie baby" stuffed animals.
When the children were first diagnosed, the information the family received was incomplete, and much of it turned out to be outdated and incorrect. But it was very scary.
Sharon immediately set out to read and photocopy every article about PXE in the medical library at UMass-Worcester. Then the couple contacted every major PXE researcher to request information about their work.
Struggling to locate and contact other people whose children have PXE, they discovered that the disorder often goes unrecognized until adulthood, even though many patients remember having characteristic skin conditions as children.
In the process of gathering information, the Terrys realized that someone needed to tell others about the information already available. Adults with PXE face complications which can be life-threatening, especially if they or their physicians have been misinformed about the disorder.
Whenever there is a job to be done, the Terrys have always jumped in to do it. They gathered a group of medical advisors, printed up information bulletins, and became regular exhibitors at medical conferences. Elizabeth and Ian became experts at dealing with people's questions about them. They were not sick, but people kept asking about their "disease" and asking when they would get better.
Elizabeth, now aged nine, corrects anyone who describes PXE as a disease. "It's a disorder!" she says, rolling her eyes as if she has been through this a million times. She is considering requesting a consultant's fee for showing her neck to people at conferences.
Both children can discuss the medical aspects of PXE. Words like elastin fiber and calcification fill their explanations. Elizabeth can fool a visitor with her perfect grasp of the subject. She is so competent, she seems grown up. Concluding a discussion of the goals of PXE International, Elizabeth says, "Maybe the scientists will find some kind of treatment for PXE." Suddenly she looks worried and vulnerable. "If they do, I hope it's not a shot."
It is hard to worry about your children's health, to dedicate yourself to all people affected by PXE, and then to be told that PXE does not make children sick enough to get national attention. Yet that is what the Terrys hear. PXE is estimated to affect, at most, one in 25,000 people, maybe only one in a 100,000. Further, PXE is only one of 300,000 rare genetic disorders cataloged by the medical profession. These are long odds for getting research funded. But the Terrys intention has always been to facilitate and initiate medical research as well as to provide a network for families affected by PXE. This is an unusual advocacy model.
"The typical 'Mom and Pop' organizations work for patient support only. They think they should leave all the medical aspects to the experts," said Patrick Terry.
Understanding that researchers require access to patients, and that the low incidence of the disorder has resulted in isolation of both patients and medical people, the Terrys realized that their efforts would need to be both international and collaborative.
"We have great relationships with the medical researchers. We've learned the biology, the chemistry, the details of molecular genetics. But we don't involve ourselves in competition among researchers; we support everyone. That kind of cooperation gives us a powerful approach. Other organizations have been coming to us and asking us how to do what we are doing," said Sharon.
In keeping with the belief that collaboration is vital, PXE International works with a range of organizations. Because PXE affects many bodily systems, collaboration must be across a broad spectrum. Patrick and Sharon serve on the boards of the Alliance for Genetic Support Groups, the Coalition of Patient Advocates of Skin Disease Research, and the National Organization of Rare Disorders.
PXE International has scheduled an international symposium on PXE in November, to be held in the Washington DC area. All of the major researchers involved in PXE have committed themselves to attend. A patient and family conference will take place in conjunction with the symposium. In addition to support from across the world, PXE International continues to depend on local friends, many of them people who have worked with the Terrys on community projects here in Sharon.
Though the Terrys give huge amounts of time to PXE International, often working together in the home office until two in the morning, they continue to work with community groups.
Sharon volunteers at the Alternative School and serves on the Alternative School Board, even though Elizabeth and Ian are home schooled. She leads the Sharon Home Schoolers network, serves on the Sharon Community Youth Coalition, and is the treasurer and a coach for the Sharon swim team. Patrick serves on the Recreation Commission, and the New Friends of the Ames Street Playground, and volunteers at Moose Hill Wildlife Sanctuary.
"I couldn't do what Sharon and Pat do. I don't know any one else who could," said Angie Dorcus of Moose Hill Wildlife Sanctuary, a friend and board member who volunteers weekly at the PXE office and cares for Elizabeth and Ian when their parents need to be out of town.
"Sharon and Pat give people this "go-get-em" feeling, that they can get something accomplished. They're very motivating. I go home after helping at PXE and think, what else can I be doing?" said Dorcus.
Ever since they decided to do something about PXE, Patrick and Sharon Terry have been asked, "What did you think of the movie, Lorenzo's Oil?" This movie documents one family's struggle and eventual success in finding a treatment for a disease which devastated their child. The Terrys were afraid to watch it.
Last week, they finally watched "Lorenzo's Oil." Sharon said, "I was overwhelmed by the emotional side of it and we're so busy we don't always have time to cope with the feelings of being parents of children with PXE. But Patrick was overwhelmed by the sense that he wasn't doing enough for PXE. He cried all night."