Student Makes Use of His Disease: Young Fresnan With a Rare Bone Disorder Will Spend a Week in a Prestigious Lab.

By Barbara Anderson, The Fresno Bee, Calif.

Jul. 17–Vincent Whelan has a disease that could someday imprison him in a shell of bone. But he considers himself lucky.

Not many young people get an invitation from a lead scientist at a prestigious medical school to spend a week in a research laboratory.

This week, Whelan, 19, of Fresno, is the guest of Dr. Frederick Kaplan, chief of the Division of Metabolic Bone Diseases and Molecular Orthopaedics at the University of Pennsylvania School of Medicine.

It’s an opportunity for Whelan, a college student who intends to become a doctor himself, to step inside the medical world. And it’s a chance for the young man to mingle with researchers who found the key to what causes his disease.

Whelan has fibrodysplasia ossificans progressiva, an extremely rare disease that afflicts only one in 2 million people. There are only about 500 known cases of FOP — and Whelan is one.

Researchers welcome the visit by Whelan.

“We’re very happy to have him,” Kaplan said. “It will be the first time ever an FOP patient who is a pre-med student visited the lab in a student capacity.”

Kaplan is an expert on FOP and how cruel the disease can be. In April, he and co-researcher Eileen M. Shore reported the discovery of the gene mutation that causes the body to grow bone unnecessarily.

The damaged gene acts like a switch turning on a signal that tells the body to turn muscle into bone when there is no reason for it to grow, Kaplan said.

Each spurt of bone growth builds onto the next, eventually imprisoning the person in a bone cage.

People with FOP have a median life expectancy of 45 years. But Kaplan said life expectancy ranges from 8 to 80, as the disease’s severity and progression vary from patient to patient.

The next step for researchers is to create a medication that targets the abnormal gene and disables its bone-making engine. “If we can do that, we can turn what is now a horrible nightmare disease into nothing more than an inconvenience,” Kaplan said.

Whelan’s FOP is mild to moderate, he said. In the 15 years he has been researching the condition, Kaplan has seen almost every child in the world with FOP. Kaplan has known Whelan since he was a young boy.

Thus far, Whelan has lost mobility in his neck and shoulders as muscles there hardened. He can’t turn his head or put his arms above his head. He also can’t bend to tie his shoes or stand straight with both feet flat on the ground.

This past school year, he enrolled as a biology student at Santa Clara University, a college small enough that he can walk to class. His first year of college was at the University of California at Berkeley. The campus was too big, he said. He needed a motorized scooter to get around the sprawling, hilly grounds.

The disease hasn’t robbed the college student of his independence. He shares a dormitory suite with three roommates. With the help of a few adaptive devices , such as a comb with a long handle, “I can do everything myself,” he said.

By the time he was in sixth grade, Whelan had learned to accept the disease. “I realized it wasn’t just going to go away,” he said.

With FOP, the slightest bump can cause painful swelling, followed by the formation of new bone. Whelan stopped playing sports — soccer and Little League baseball — and turned instead to music. At San Joaquin Memorial High School he played trumpet in the marching band and performed on the piano at his 2004 graduation.

Whelan’s first symptom was a persistent limp that started when he was about 9, said his mother, Carol Zapata-Whelan, a lecturer in Spanish and Hispanic literature at California State University, Fresno.

Her son was fortunate, Zapata-Whelan said. His doctors were cautious in their treatment. Often children with FOP are misdiagnosed with cancer. Doctors perform unnecessary biopsies and surgeries in hopes of helping, but which typically cause an explosion of bone growth.

Whelan’s pediatrician and an orthopedic surgeon postponed a biopsy, although they suspected cancer.

A rheumatologist made the diagnosis, noticing Whelan’s short big toes. Short big toes are an indication of FOP.

In the years since her son’s diagnosis, Zapata-Whelan has become an advocate for people with the disease. She has written a book, “Finding Magic Mountain: Life with Five Glorious Kids and a Rogue Gene Called FOP.” Of her five children, Vincent is the only one with the disease.

She hopes the book will draw attention to the disease and the need for more research to find a cure. “My goal as a mother is to get rid of it,” she said.

The book should be available in bookstores by the end of this month, Zapata-Whelan said.

A percentage of the book sales will be donated to Children’s Hospital Central California and to the International Fibrodysplasia Ossificans Progressiva Association, she said.

The nonprofit association raises money to help sponsor research.

About 77% of the money for FOP research comes from patients and families like the Whelans, Kaplan said.

Families worldwide raise money by doing everything from holding barbecues and garage sales to staging an opera benefit in New York City and a barn dance in Scotland, he said. The National Institutes of Health provides the remainder of the money for research.

Kaplan supplied the forward for Zapata-Whelan’s book. He is like a member of the family, she said.

So it was not a big surprise when the doctor invited her son to spend a week at his laboratory. The Whelans had toured the lab before. Kaplan routinely brings patients through the building to meet researchers.

But this is the first time an FOP patient will be quizzing researchers as a student.

FOP researcher Shore met Whelan several years ago. She looks forward to his questions. “I think it will give all of us a somewhat different perspective than we’re used to thinking about,” she said.

Kaplan plans to keep Whelan busy this week.

“I thought that perhaps a very exciting thing might be to construct sort of a custom-made program for him,” he said. “He could be exposed to all of the researchers … and see what they’re doing.”

On Whelan’s schedule: visits with FOP patients being seen by Kaplan, a tour of the Museum of the College of Physicians in Philadelphia and a display of a skeleton of an FOP man who donated his body to science.

And there will be time for some hands-on research.

Right now, researchers are working with fish and mice as models for testing drugs that could disable the renegade FOP gene.

Kaplan refuses to make predictions about when an effective treatment for the disease will be ready for patients like Whelan.

But Whelan is optimistic about a cure for his disease: “At the rate they’re going, they’ll be able to correct it in 10 years.”

The reporter can be reached at banderson@fresnobee.com or (559) 441-6310.

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Copyright (c) 2006, The Fresno Bee, Calif.

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