The Falcon   |   Volume 80, Issue 26

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Small steps forward

Discovery of rare gene leads to hope for cure

By SHAWNRENE KEPPEL, Assistant News Editor

Published: January 31, 2007

Sarah Steele is a young woman with many dreams.

As the daughter of a college professor, Dr. Rick Steele, she said she's wanted to go to college since she was 6 years old. She will be graduating in June with her degree in Spanish and linguistics.

She dreamt of being a translator since junior hugh, but now thinks working with computers would suit her better.

There are other, more simple dreams that Steele has.

"When I was in kindergarten I wanted to fold my arms or touch my hips," she said. She dreams of riding rides at Disney World. She hopes to one day be able to dress one of her American Girl dolls.

She has never been able to do any of these things.

Steele was born with fibrodysplasia ossificans progressiva (FOP), which progressively causes bone to grow in parts of the body where muscle would normally be. This disease affects only one in 2 million people worldwide. In 2006, however, the dreams of Steele and others affected by FOP to find a cure for the disease came a bit closer to reality.

Because of the disease, Steele has been confined to a wheelchair since she was in fourth grade. Her elbows have been locked in place for 21 years. Since then she has not been able to reach far enough to turn on a light switch.

Steele's case has progressed more rapidly than most.

"By the time I was 10 I had lost as much mobility as people (with FOP) had lost by the age of 25," Steele said.

Though Steele said she needs assistance in doing everything besides feeding herself, she has never let her condition kill her spirit or prevent her from doing well in school. She and her parents, with the help of technology, have figured out ways for her to get everything she needs throughout the day so she could live on campus and allow her to really be part of a college community.

"Seeing her move into the dorms was scary and absolutely amazing for us," said her mother, Marilyn Hair. Hair said she and her husband always dreamed that Steele would go to college, so seeing it actually happen was encouraging.

Steele's electronic chair helps get her through the hills of campus without too many problems. Her room in Emerson has been specially designed with a bathroom complete with a ramp for her wheelchair to enter, a removable showerhead and metal hand bars for assistance.

When she enrolled at SPU, she said people questioned if it would take her five years, but after four years she is ready to graduate.

Living in the residence hall has allowed Steele to sample her dream of independence.

"Being in the dorms has been really freeing," she said, adding that it will be hard to leave after four years of living in the same room.

She said she's loved the simple luxury of going down the hall, without her attendant, and spend time with different people that live there and being able to build true relationships with them.

"It's nice to be known as Sarah instead of being known as the girl in the wheelchair," she said.

Outside of the SPU community, Steele has found a community with others who suffer from FOP. Their hopes and dreams of a cure for FOP could be coming closer and the community could not be happier.

After nearly seven years of research, scientists at the University of Pennsylvania School of Medicine discovered the gene that causes FOP.

Scientists discovered last year that people with FOP have an incorrect amino acid at position 206 in the ACVR1 gene, a site that makes a key regulatory protein for the Bone Morphogenetic Protein pathway.

"It (the discovery) is significant because it's such an itty-bitty mutation in one spot, but it's causing such a devastating disease," said Dr. Cynthia Fitch, associate professor of biology. "It could have been in a place that it doesn't matter. This is not only in a place where it matters; it is in a place where it really matters."

In this case the amino acid that has been switched in people with FOP has caused cartilage to constantly be forming, Fitch said. Most of the time there is a balance between bone formation and shaping, she said. However, in these cases the signal that turns off the bone protein activation is not there and the signal which tells the body to shape down the bone has been turned off.

Due to the rarity of the disease, Steele said people are often misdiagnosed. The extra bone growth is often mistaken for tumors and patients are then treated for cancer, which worsens their condition, causing rapid bone growth to take place.

Steele said her elbows fused when she was given a routine shot at the doctor's office.

Researching the disease was tedious for scientists.

"Researchers were looking for 10 multi-generational families with FOP," Steele said. "For one thing, FOP is rare. Second, by looking at me, could you imagine me having a kid?" she asked.

However, scientists found seven families with multi-generational FOP cases and they were able to conduct their research.

"You're fighting a developmental time frame," Fitch said. "Patients may end up in the same debilitated position (with treatment), but much later on in life."

Though this discovery is a major breakthrough in FOP research, Steele is unsure if this advance will help her condition.

"My elbows have been locked for 21 years so the muscle is degenerated from lack of use," she said. "Where my arms are now, they're locked, but I can feed myself and I can drive my chair. If they were just limp I would have less use of them than I do now."

This does not drive Steele away from dreaming for a cure for FOP though.

Steele and her family continue to support all those affected by FOP in raising awareness about the disease and helping fund research for the International Fibrodysplasia Ossificans Progressiva Association (IFOP).

Friends of Steele and her family will be hosting a benefit concert for FOP research in her honor.

This will be the second concert for FOP research that musician friends of Steele's family have done in her honor, but the first time that it has been brought to SPU.

"At a benefit recital held three months ago, $3,000 was donated to the IFOPA," Hair said. "It's an upbeat and fun time to do something good for the world."

The free concert will be on Feb. 9 at 7 p.m. at the Demaray Chapel of First Free Methodist Church. It will feature vocalist Nancy Bos, pianist Jan Navarro, and guitarists Paul Eisenbrey and Kurt Hanson.

In raising awareness about FOP at SPU, Steele hopes to leave students with a message. She said she would like to see those going into the medical field learn the basics of FOP to help lessen the chance of misdiagnosis.

For students who may never encounter FOP again she simply stated, "Remember to not judge people by looking at them."

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