When her son Jared was a baby, Tricia Wright remembers feeling that things were somehow just too perfect.
“He was always such a good, happy baby,” Tricia recalls. “I used to think to myself that something bad was going to happen. It was like waiting for the other shoe to drop.”
Tricia didn’t mention those feelings to anyone. When Jared was four years old, though, she began to realize that he had a delay in his speech. He was also having difficulty going up and down stairs and, sometimes, getting up off the floor. So Jared’s pediatrician suggested that he be seen by a neurologist at Strong Memorial Hospital, part of the University of Rochester Medical Center.
Tricia and her husband, Dale, took Jared to see Dr. Emma Ciafaloni, a neurologist and expert in Muscular Dystropy. After an initial consultation, Jared was sent for blood work. The results would not be available for 4-6 weeks. Dr. Ciafaloni warned the family against doing their own research in the meantime.
“She said, ‘Don’t go on the internet and start looking things up,’” Tricia says. “But of course, that was the first thing we did. And all of the characteristics were pretty much what Jared had.”
The wait for the test results was long, but Tricia was already certain of the results. “I knew they would come out positive,” Tricia says. Her intuition proved correct: The test results confirmed that Jared had muscular dystrophy.
There are several known forms of muscular dystrophy, and Jared’s is the most common, known as Duchenne MD. It’s a progressive disease that affects the muscles of the body, gradually making them weaker and weaker. People with Duchenne MD lose their ability to walk, eventually requiring wheelchairs to get around. Most victims of Duchenne MD die in their late teens or early twenties.
Despite Tricia’s hunches that something was seriously wrong with Jared, she and Dale were devastated by the news. The family turned to Dr. Ciafaloni to help them chart their course.
Jared would need the help of numerous doctors, with Dr. Ciafaloni at the hub of the effort. As the needs arose, she put the Wrights in touch with pulmonologists, cardiologists, behavioralists, as well as physical and occupational therapists, all of whom had experience in working with children like Jared.
Gradually, it became apparent to Tricia that, though their news about Jared was heart-rending, they couldn’t have been living in a better place to receive treatment for MD.
“We felt so lucky,” Tricia says. “Not every hospital has an MD clinic.”
In fact, there were few places like it in the world. The University of Rochester Medical Center is home to one of three original Muscular Dystrophy Cooperative Research Centers set up by the National Institutes of Health. Patients come from around the world for its expertise in treating many forms of MD.
For Jared and his family, regular visits to Dr. Ciafaloni and MD clinic would be the centerpiece of his care. Jared, now nine, visits the clinic every 3-4 months.
“It’s actually kind of fun,” says Tricia. “She wants to see him run down the floor, she times him, watches him get up off the floor and measures his range of motion.”
It’s evident to Tricia that Dr. Ciafaloni is not only an expert on children with MD, but has a special place in her heart for them. “You can see it in the way she relates to them,” says Tricia. “She kids around with them. Jared likes to touch everything, and that’s fine with her. She teases him! She’s just very good with him.”
For Tricia, having the MD Clinic also means that Jared can often see all the specialists he needs in just one trip.
“A lot of times, Jared’s physical therapist will come see him right at the appointment. His cardiologist, too. It’s great that he sees all the kids with MD. It’s his speciality. He just seems to know everything about it.”
“It’s like one stop shopping!” Tricia adds. “Everyone you need is there in one location.”
For the last few years, Jared has been receiving corticosteroid treatment that will keep him walking longer. It was first identified as an effective treatment for Duchenne through clinical trials at the University of Rochester Medical Center in the early nineties. That treatment, though, cannot cure his disease. So Tricia and Dale feel fortunate that the medical center is also a world-leader in research on MD.
“They do a lot of research,” says Tricia. “If something comes along in the research, they ask if we want to be a part of it. We feel like we’re at the leading edge. When something comes along, we absolutely know about it first here.”
Though their life has been turned upside-down by Jared’s diagnosis—the couple struggles to create a normal life for their other son, Zach, who does not have MD—they feel thankful to have found a place that is at the very center of MD treatment and research.
“They’re wonderful!” says Tricia. “Everyone, even the registration people, they’re all so friendly.”
“Jared’s been the local Goodwill Ambassador for the Muscular Dystrophy Association for the last three years, and last year, he was the state ambassador,” Tricia says. “The doctors will come to seminars and telethons with Jared, and everyone at Strong always asks to see his pictures. But I think they’re like that with everybody!”
When asked what lies ahead for Jared, Tricia replies, “The best possible future? Finding a cure. Realistically, I think they will some day. Not so long ago, they didn’t even know what gene caused it.”
She and Dale feel that they are in the best place possible as they keep that hope. “Jared gets so much help right now,” she says. “We can’t ever see leaving. We’ve heard stories of people in other cities having trouble getting a diagnosis and not being understood. We’ve never had an obstacle here. Everything he needs, he gets.”
In listening to Tricia’s positive and hopeful words, one might momentarily forget that her son is battling a disease like MD.
“He’s always smiling,” Tricia says. “He brightens the room when he comes into it. It makes me grateful for what we have.”
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