Treatments & Research

A Rare Find

Aja is grateful for her care team at Shriners Children’s.

Patients with rare conditions get answers and make progress at Shriners Children’s

Shriners Children’s has been a leader in caring for orthopedic conditions since opening its first location in 1922, primarily in response to a polio epidemic. Today, most of our locations can treat virtually all pediatric orthopedic conditions – even those that are extremely complex and rare – with a team approach focused on innovation and compassion. 

A care team that’s like family

Aja first visited Shriners Children’s Hawai’i when she was 5 months old, after having been diagnosed with osteogenesis imperfecta (OI, also known as brittle bone disease) before she was born. Her parents chose the hospital because of its reputation for providing excellent care for pediatric orthopedic conditions. Shriners Children’s is known for its research into developing treatments for OI. 

The most common sign of OI is bones that break easily. For Aja, treatment has included a number of surgeries, casts and follow-up care. Aja’s team of doctors, nurses and other health care professionals at Shriners Children’s are part of her “ohana” (family). When she needs care, she refers to the hospital as “auntie’s house” and looks forward to seeing the physicians and staff. “Everyone is so nice, and they make me feel better because they fix my broken bones so I can walk again,” Aja said. 

Now 10, Aja relishes being a big sister to her two siblings and enjoys swimming, dancing hip-hop and painting with them. Her experience with her care team has fueled her desire to help other children, and she wants to work at Shriners Children’s some day. “I have no doubt that her quiet confidence and resilience will make that a reality,” said her dad, Adam. “Shriners Children’s has been a blessing to our family, and we have the peace of mind knowing it’s never about cost; it’s about the kids.” 

Molly can walk, play and jump after treatment for AMC.

A goal of independence

When Deborah and Chris learned that their unborn daughter, Molly, had arthrogryposis multiplex congenita (AMC), a rare orthopedic condition, they weren’t sure what it meant. “We were told from other doctors that there wasn’t much anyone could do,” said Chris. “After we met with care providers at Shriners Children’s Portland, we had a much more positive outlook.” 

AMC is characterized by tightened joints, muscles and tendons and affects approximately 1 in 3,000 individuals in the United States. The condition, which ranges in severity, can appear in hundreds of different ways and typically includes visual cues such as clenched fists or club feet. 

Molly was born with club feet, causing both of her feet to turn inward and upward. She also had dislocated knees, a dislocated hip and muscle weakness in her legs. If left untreated, Molly might have had difficulty walking or sitting comfortably in a chair. 

Molly had her first appointment at Shriners Children’s Portland with Ellen Raney, M.D., when she was 6 days old. Along with her care team and Molly’s parents, Dr. Raney set out to help Molly gain as much independence as possible. After four surgeries, numerous rounds of serial casting to correct the positioning of her feet and spica casting (a cast that includes one or both legs as well as the waist) to foster healing after hip surgery, Molly has gained the independence that her medical team was seeking. Now 3, she has been walking on her own for almost a year. 

“Molly loves showing off how much she can bend her knees,” said Deborah. “She’s excited to learn how to jump, and she’s started to join her brother and sister on the trampoline. Molly may do certain things her own way, but there’s little that she can’t do.” 

Nathan has a rare condition as well as scoliosis, for which he is treated with bracing.

A ‘home for everything’

At 16, Nathan was losing almost complete use of his right leg and had trouble moving his arms. His condition was especially devastating because it prevented him from participating in his favorite sport – bowling. Nathan was diagnosed with acute flaccid myelitis (AFM), a condition that attacks the tissue and the myelin (the protective coating of the nerves in the spinal cord) resulting in weakness and loss of muscle function. AFM is a very rare illness, with approximately 400 cases in the United States over the last four years. 

Nathan and his family first learned of Shriners Children’s Philadelphia through an AFM support group on Facebook. Once Nathan began receiving care at Shriners Children’s, he was also diagnosed with a limb length difference and scoliosis. Joshua Pahys, M.D., orthopedic surgeon, is currently treating the scoliosis with bracing. 

Jay, Nathan’s dad, said, “When we first heard of Shriners Children’s, we didn’t know that it would become our home for everything.” 

Because of the care he has received for both conditions, Nathan is now able to resume participating in competitive bowling tournaments. Last summer, he competed in the “Teen Masters,” an ambitious tournament for K–12 and college students. 

Jade finally got the answers she needed.

A persistent search for answers

When Jade was in kindergarten, she developed a tough spot on her leg that felt hard to the touch. Her parents thought this was odd and made an appointment with their family pediatrician, who told them not to worry. 

After a few months, Jade’s parents took her back to the pediatrician. The undiagnosed spot on her leg had not gone away and appeared to be growing. Her doctor was perplexed but seemed confident that it was something Jade would outgrow. Years went by, and, eventually, it began to affect Jade’s ability to walk and participate in activities she enjoyed most: cheerleading and gymnastics. 

“I was just so frustrated,” said Jade’s father, Chris. “We were referred to so many doctors who didn’t seem interested in investigating this further. They didn’t know what it was, and they would just refer us somewhere else. Before we knew it, we were being referred back to the original doctors we first met with. We were quite literally going in circles.” 

Jade’s pediatrician ultimately referred her to Shriners Children’s Northern California, where her family met Orthopedic Surgeon Debra Templeton, M.D. Dr. Templeton diagnosed Jade with liner scleroderma, an extremely rare autoimmune disease characterized by an overproduction of abnormal collagen that causes normal tissue to be replaced with thick, dense scar tissue. It can affect underlying bones and muscles if left untreated. Dr. Templeton explained to Jade’s parents that she would do everything in her power to build a team of doctors and specialists who would find answers and an appropriate course of treatment. 

Jade is now being treated by Dr. Davids.

Jade, now 13, is currently being treated by Assistant Chief of Staff and Orthopedic Surgeon Jon R. Davids, M.D. He analyzed Jade’s gait using high-tech motion analysis – an integral piece of the comprehensive treatment plan for her rare medical condition. 

“We are just so thankful for everyone at Shriners Children’s,” said Chris. “And we know that we are where we need to be for Jade.”

To learn more, visit