Boy limited by rare bone disease

Not knowing he had happened upon a Christmas gift, Shane D. Terry was excited to play with the Batman toy he discovered in the back of his mother’s Jeep.

After playing with the toy and a race car video game, the energetic 4-year-old sat at his mother’s computer in their Pine Meadows home in late September before picking up the toy again.

“How could I say no, that he couldn’t have it?” said Kimberly A. Hayes, Shane’s mother.

Mrs. Hayes, a 4th-grade teacher at Watertown City School District’s Knickerbocker Elementary School, said she has totally reversed the parenting philosophies she had strongly held before Shane was born. Instead of letting her son play outside and participate in sports to keep active, she tries to shelter Shane from a world that could be dangerous to him due to his fibrodysplasia ossificans progressiva, or FOP, diagnosis.

According to the International Fibrodysplasia Ossificans Progressiva Association, FOP is one of the rarest, most disabling genetic conditions, with more than 600 confirmed cases across the globe. FOP causes bone to form in muscles, tendons, ligaments and other connective tissue.

Bridges of extra bone can develop across joints, which over time will restrict movement and form a second skeleton. Bodies eventually become locked up.

A fall could trigger a flare-up, for Shane — the son of Jay A. Terry and step-son of Peter A. Hayes — and create what’s often mistaken for a tumor when a rock-hard lump appears near the injury. The lumps gradually fade, and tissue starts to ossify.

“When he was first diagnosed, I wanted to keep him in a bubble,” Mrs. Hayes said. “Through an FOP group online, I learned that I need to let him be as much of a kid as I can. I have to look at every situation to see which would be the safest for Shane.”

Shane knows he has extra bone, Mrs. Hayes said, but he thinks it’s normal.

He no longer visits his favorite place, McDonald’s Playland, because it’s not safe for him, she said.

He doesn’t understand yet that his malformed big toes, often a clue to FOP, make him uneasy on his feet. His mother encourages him to keep his shoes on, even when inside their home.

Complications began after Mrs. Hayes found out she was pregnant with twins after an invitro-fertilization process. Shane’s twin sibling was stillborn at 20 weeks but Shane made it to 32 weeks before he was born at Crouse Hospital, Syracuse, weighing 4 pounds, 10 ounces.

He was born with two deformed vertebrae in his neck, crooked pinky fingers and short thumbs that are missing the middle knuckle.

Monthly doctors visits subsided in May when Shane was finally diagnosed with FOP.

THE DIAGNOSIS

When his pediatrician, Dr. Alfred L. Gianfagna of Watertown Pediatrics, 1571 Washington St., was puzzled as to why a sledding mishap caused a flare-up on Shane’s shoulder after another boy slid into Shane, Mrs. Hayes took her son to Upstate Medical University, Syracuse, where they still came up empty-handed 15 hours later.

“They did a CAT scan and couldn’t come up with a consensus as to what it was,” Mrs. Hayes said.

She and the doctors could not explain the flare-ups, or find a reason why Shane’s stomach began to puff out.

The family then traveled to Children’s Hospital Boston, Boston, Mass., where Dr. Sharon Smith told them the news they weren’t prepared to hear.

“She said, ‘I’m 95 percent positive this is what Shane has, and if it is, you have a long road ahead of you,’ Mrs. Hayes said. “Then, we went to the Pennsylvania doctor.”

Dr. Frederick S. Kaplan is a University of Pennsylvania Health System professor of Orthopedic Surgery and one of the world’s leading FOP researchers.

He met the family May 28 in Pennsylvania.

“I could act at least as a clearing house of knowledge and give them reasonable expectations,” Dr. Kaplan said in a telephone interview. “I can give them reasonable guidance, practical information on dental care, immunizations, protections at school, how to handle routine pediatric problems, injuries, soft tissue swelling, and to get them connected with the FOP community.”

Dr. Kaplan said he never charges an FOP patient for his service.

He described Shane as an adorable 4-year-old child who has a classic case of the condition. There is nothing unusual about his FOP, compared to other children, Dr. Kaplan said.

“Hopefully someday soon, in the next decade, we’ll have more effective treatments for this, that are safe and effective,” Dr. Kaplan said.

He and other researchers at the University of Pennsylvania School of Medicine discovered the FOP gene two years ago, and are working on treatments.

The disease has no cure.

The average life expectancy for an individual with FOP, Dr. Kaplan said, is 41 years. Most people are wheelchair-bound by the third decade of life.

Some are locked in a standing position, while others can’t escape a sitting position.

Years of physical and occupational therapy follow an FOP diagnosis. Shane has had nearly two years of each.

His disease is at his shoulders and back, but will progress down his entire body.

Mrs. Hayes could opt to have Shane’s extra bones surgically removed, but that often worsens the condition, according to the IFOPA Web site.

Shane will learn to adjust to his FOP once he understands its complexity, but for now, his mother is the one taking precautions.

Shane goes to Jefferson Rehabilitation Center’s pre-school program. If he goes out for recess, he has to wear a helmet.

“He also can only lift his arms a little bit,” Mrs. Hayes said. “There’s been a few times when he physically cannot feed himself. He can’t bend down to take his shoes off or put his socks on.”

She said the condition hasn’t made her son any less active, and she hopes his independence doesn’t digress as the disease progresses.

A rare degenerative disorder has taken over 4-year-old Shane D. Terry’s body and will soon take over his mother’s wallet.

After receiving only one medical bill for $1,200 within the past year, his mother, Kimberly A. Hayes, Watertown, said she expects plenty more to come.

Her cousin, Tracy Largett, Mannsville, is organizing a benefit for Shane.

A portion of the proceeds will go to making home improvements to provide a safer environment for Shane, while a bulk of the funds raised will go to the International Fibrodysplasia Ossificans Progressiva Association for FOP research.

The benefit begins at 4 p.m. Oct. 18 at the Eagles Club, 19260 U.S. Route 11, Watertown. Tickets are $10 pre-sale by calling Mrs. Largett at 315-465-7979, or $12 at the door.

Mrs. Largett also is accepting donations from people who want to help but don’t expect to attend the benefit.

A chicken dinner, Chinese auction, 50/50 raffle and music will be offered during the benefit, as well as door prizes.

“Family and friends had already done a garage sale to raise money for travel expenses, and then they decided to do this benefit,” Mrs. Hayes said.

ON THE NET: International Fibrodysplasia Ossificans Progressiva Association: www.ifopa.org

Update article: http://www.watertowndailytimes.com/article/20081106/NEWS03/311069972