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Patient advocates Gabrielle Dahl and Alexis Platt.
Courtesy of Erin Ransford

AAOS Now

Published 4/1/2008
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Erin L. Ransford

Patient stories make the case

By Erin L. Ransford

Research Capitol Hill Days present unique opportunity

On Valentine’s Day, the AAOS delivered an important message to Capitol Hill: research funding to the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) must be increased. It was a very personal message for the 34 patient advocates and 45 physicians and researchers who participated. The patients, in particular, were well aware of the impact that reduced funding could have on their lives and were very willing to share their stories.

Alexis Platt: Osteosarcoma
In the fall of 2006, six-year-old Alexis Platt’s young life changed forever. A series of x-rays revealed a tumor on her right femur close to the knee. Magnetic resonance imaging (MRI), followed by a biopsy, confirmed the diagnosis of osteosarcoma, the most common type of primary bone cancer and the sixth most common type of cancer in children.

A week later, Alexis began her first of 19 rounds of chemotherapy. In early 2007, Kimberly J. Templeton, MD, an orthopaedic surgeon and musculoskeletal oncologist at the University of Kansas Medical Center, performed a unique life-and-limb saving surgery on Alexis.

The surgery, a Van Nes rotationplasty, involved removal of most of Alexis’ femur and knee joint. After rotating the lower leg and foot 180 degrees, Dr. Templeton fused Alexis’ tibia to the remaining femur. The foot was positioned where the knee used to be, with the heel in front and the toes pointing to the back, enabling the ankle joint to act as a knee joint. A prosthetic lower limb allows Alexis to walk.

“Without the rotationplasty, Alexis would have had to have her whole leg removed,” explains Mrs. Platt. “With the rotationplasty, her prosthetic is shorter; she has more mobility and uses less energy.” In August 2007, Alexis started weekly physical therapy with her new leg and began doing daily strength-training exercises at home.

Alexis is now cancer-free and learning how to run and jump with her prosthesis. Research on bone cancer has already increased survivorship and allowed more patients to avoid amputation and save limbs. During the 2008 Research Capitol Hill Days event, the Platt family and Dr. Templeton met with Kansas Sen. Sam Brownback and Reps. Nancy Boyda, Todd Tiahrt, and Dennis Moore. They also shared their story with staff from the office of Kansas Sen. Pat Roberts, and Speaker of the House Nancy Pelosi.

“The face-to-face contact is important in getting your message across,” says Mrs. Platt. “Having patients attend the meetings with the surgeons helps show Congress members what additional research money can do to help someone.”

Ian Cali: Fibrodysplasia ossificans progressive
Ian Cali has a rare bone disease, fibrodysplasia ossificans progressiva (FOP). Frequently misdiagnosed, FOP is one of the rarest and most disabling genetic diseases, causing hard bone to form in muscles and other soft connective tissues. Eventually, patients lose the ability to move the affected areas.

Ian was diagnosed at age 5, after a year of misdiagnoses and unexplained swelling and stiffness in his neck, back, and shoulders. He has heterotopic ossification (extra bone growth) in his neck, back, shoulders, jaw, left hip, and toes, which severely limits his movements. “FOP is a devastating condition and the lack of treatment and cure makes the progression of this disease hard to cope with,” Mrs. Cali explains.

When Ian was diagnosed, very little research was being done on FOP. The Cali family took action by raising funds and bringing awareness and attention to the condition. They are active in the International FOP Association (www.ifopa.org) and the U.S. Bone and Joint Decade Rare Bone Disease Patient Network; they have also participated in several advocacy events. They have also been raising funds for 12 years for the Ian Cali FOP Research Fund at the University of Pennsylvania (UPenn). Currently, 75 percent of all research dollars for FOP at UPenn come from FOP family fundraisers, endowments, and donations.

“Programs like [Research Capitol Hill Days] provide not only the opportunity to tell my story and spread awareness, but help me build hope for the future and for research,” Ian explains. “It was nice to be one advocate in a larger group of advocates instead of one patient in a group of doctors and parents.”

Patient advocates Gabrielle Dahl and Alexis Platt.
Courtesy of Erin Ransford
During Research Capitol Hill Days, Lewis Spilker visited the offices of Iowa Sens. Tom Harkin and Chuck Grassley, and Reps. David Loebsack, Bruce Braley, and Tom Latham.
Courtesy of Erin Ransford

In 2006, Frederick Kaplan, MD, director of the Center for Research in FOP and Related Disorders at UPenn, and his research team made the first step in finding a treatment when they discovered the gene that causes FOP. “The discovery of the FOP gene is relevant to every condition that affects the formation of bone and every condition that affects the formation of the skeleton,” Dr. Kaplan explains.

“The FOP gene discovery brought a young adult like me from hopeless to hopeful,” Ian says. Research funding has already produced tangible results in the journey toward finding a treatment for FOP. Ian and Amanda Cali, with Dr. Kaplan, met with nine members of Congress during the Research Capitol Hill Days program. “The program thrives because of the willingness, positive, and determined patient advocates that are capable and motivated to spread awareness of their condition,” Ian proclaims. “It’s an opportunity for us to share our stories, and gives us a glimpse of hope for more funding and support for research.”

Sonja-Marie Roselius: Spina bifida
Eleven-year-old Sonja-Marie Roselius has spina bifida, a spinal birth defect that causes complete or partial paralysis of the legs and a variety of neurologic and musculoskeletal conditions. About 2,500 infants are diagnosed with spina bifida in the United States every year.

People with spina bifida face serious physical challenges throughout their lives. Sonja-Marie has been treated for clubfoot and scoliosis; her orthopaedic surgeon, Laura Tosi, MD, monitors her carefully for any signs of hip dislocation. Last year, Sonja-Marie had surgery to repair a tethered spinal cord and a separate procedure to correct rotation of her tibia and fibula. Dr. Tosi fitted her with a Taylor Spatial Frame, an external fixation device to help correct the leg deformities.

“Progressive research, working hand-in-hand with new technology and their own will power to overcome circumstances, enables kids like Sonja-Marie to do as much as they can, live independent lives, and make their own mark in the world,” says Mrs. Roselius. For example, the brace that Sonja-Marie wears once was made of heavy metals that made walking in them difficult and uncomfortable. Research on new materials resulted in the development of lighter-weight braces made of plastic and weighing just over a pound, making it easier for her to get around.

As veterans of Research Capitol Hill Days, Sonja-Marie and her mother, along with Dr. Tosi, met with West Virgnia Sen. John D. Rockefeller IV, as well as with staff from the offices of Sen. Robert C. Byrd and Rep. Shelley Moore Capito. “Familiarity fosters caring,” Says Mrs. Roselius.

Lewis Spilker: Orthopaedic trauma
Lewis Spilker, an avid motorcyclist, was taking customers on a test ride in September 2005. He lost control of the motorcycle, crashed into a bridge wall, and was thrown from the bike, over the side of the bridge, flying 45 feet before falling three and a half stories to the ground. His injuries were extensive—and included crushed right hip, femur, fibula, and ankle; broken bones in his lower left leg, his left arm, left hand, and right thumb, several fractured vertebrae and ribs, and a lacerated spleen.

At the University of Iowa Hospital, James V. Nepola, MD, an orthopaedic surgeon specializing in musculoskeletal trauma, performed a series of surgeries to rebuild Lewis’ body. Surgeries ranged from multiple bone grafts to reconstructions, bracing, and pinning. Chronic osteomyelitis developed, which required aggressive treatment, and his legs were in traction for several months.

Initially, Lewis was told his legs would need to be amputated and that he would never walk again. But Dr. Nepola gave him hope and confidence when he said, “You want your legs, don’t you? I don’t care what the book says, let me try and save your legs.” Against all odds, Lewis is walking.

During Research Capitol Hill Days, Lewis, his wife, Katie, and Dr. Nepola visited the offices of Iowa Sens. Tom Harkin and Chuck Grassley, and Reps. David Loebsack, Bruce Braley, and Tom Latham. “Without surgery, I would have lost my legs and any hope of having a full life or the opportunity to ever again ride a motorcycle, swim like I used to, walk on the beach, feel the grass under my feet, stand with the same vigor or confidence, drive normally, work on my home, or have the relationships I have with my wife, family, or friends,” Lewis told them.

Congress is listening
Two weeks later, House Appropriations Committee Chairman David R. Obey specifically addressed the flat funding for the National Institutes of Health, in his statement about President Bush’s FY 2009 budget. According to the Congressional Quarterly, Rep. Obey urged the administration to work with Congress to resolve funding differences for healthcare programs.

Learn more about the AAOS Research Capitol Hill Days at www.aaos.org/researchdays

Erin L. Ransford is medical research coordinator in the AAOS office of government relations. She can be reached at ransford@aaos.org