It is hard to understand how a disease affects a body when symptoms cannot be physically seen. So is the case for seemingly ’typical,’ 11-year-old Caleb Burgess. Diagnosed with the rare disorder, Fibrodysplasia Ossificans Progressiva (FOP).
When Caleb was seven, his mom Stephanie began to worry about differences in his body and neck mobility after comments from his teachers and friends. “He would have trouble looking up or from side to side,” she remembered. “And his big toe had had always been unusually long.”
A few days later, she started researching neck and toe deformities. “I kept coming up with FOP so I thought this has to be what it is,” Stephanie said.
Alarmed by what she found, Stephanie relayed the information to his pediatrician. He quickly discounted her conclusion. “My doctor said, ‘You need to get off the internet. It’s so rare,’” she said. Her gut feeling encouraged her to seek a second opinion.
Stephanie then contacted Dr. Kaplan at the University of Pennsylvania — the physician credited with discovering the gene that causes the genetic disease known as FOP. After looking at Caleb’s medical charts and listening to her observations, he too was not convinced. “Even that doctor (Dr. Kaplan), who is so amazing, said it wasn’t FOP,” she noted.
Dr. Kaplan instead referred her to a doctor at Children’s Hospital in Colorado who sees children with FOP. Again, she hit a dead end. “She said he looked pretty healthy, even after a series of x-rays showed he had extra bones all over,” said Stephanie. The pictures showed extra bones in his feet, thighs, and hips, as well as several of his vertebra being fused together.
A physical of Caleb followed with the doctor diagnosing him with Klippel-File Syndrome (KFS); a rare skeletal condition in which there is an abnormal fusion of two or more bones of the spinal column. Somewhat relieved, family life became normal again and a year passed without Caleb complaining about bone pain. Then, as the 2015 baseball season came to an end, Caleb started complaining about excessive pain in his knees
“He said, ‘There’s a bone on my knee,’” recalled Stephanie. Observing two bones protruding like horns under his skin, she returned to Children’s Hospital. This time the exam came back saying the bone was the formation of nodules or extra bone.
Despite Doctor’s conclusions, she continued to look elsewhere for answers. “My own research led me to the last possibility, Cancer, so we decided to make an Oncologist appointment,” she said. Still having ongoing communication with Dr. Kaplan, they also had Caleb tested for the FOP genetic mutation. “It was January 2016 when the test came back negative.”
Celebrating the tests results, they had a short period of relief before Caleb began to grow more bone in his knees and his general soreness continued.
Before their meeting with the oncologist, she called Dr. Kaplan to confirm the negative FOP diagnosis. “If they did surgery (or biopsy) that they thought might be cancer and it turned out to be bone, that would set him off for an explosion of bone,” Stephanie said.
Occurring spontaneously, Flare-ups (possibly resulting in new bone growth) usually following physical trauma such as childhood immunizations, falls, surgery, biopsy or viral illnesses. Likewise, bridges of extra bone develop across joints, progressively restricting movement and forming a second skeleton that imprisons the body in bone. Hence, FOP is the only known condition with one normal organ system turning into another.
Still worried about the possibility of Caleb having FOP, Stephanie made a call to the lab who had done the genetic testing. “The lab, ‘You know what? We didn’t test him for all of the variants because we asked your doctor for more DNA and she never sent it.’” Stephanie gasped.
“We went to Children’s that day and had our lab work overnighted because our appointment was soon.” After testing was done on herself, her husband and Caleb, the doctor from the University of Pennsylvania called the day before their scheduled appointment.
It was June 27, 2016, when he broke the news. “He does have it.”
A New Perspective
This video captured Caleb’s recent walk-off hit that won the playoff game for his team, The Raptors. The win took the team to the world series game on Tuesday, June 27th – exactly one year to the day of Caleb’s diagnosis of FOP. With the world series game tied in extra innings, Caleb had yet another walk-off to win the world series.
Since then, the rare bone disease that affects 1 in 2 million, has slowly accelerated in Caleb’s body. The good news is that Caleb’s specific variant appears to be less severe than the classic FOP genetic mutation. But with only four others ever being diagnosed with this specific variant, Caleb’s rate of progression is unknown.
Thankfully, like many kids his age, his body remains healthy enough to participate in some team sports. “Caleb is playing basketball and baseball,” she said. “In baseball, my husband, his coach, tries to play him every other inning because he gets tired and his body hurts.” Risking an injury or putting too much stress on his joints causes pain and the formation of new bone— changes documented in others with FOP.
“His limitations are trying not to get hurt, which is kind of impossible because he wants to do everything” she smiled. “One of the last baseball games, we played him a little too much…now we try to just enjoy every game and love everything he does, but some days are hard to watch.” A combination of ice, Motrin, and medicated cream helps Caleb manage the pain when he over does it.
Realizing limitations, over the past year since his diagnosis, the Burgesses have tried their best to educate themselves about the disease thanks to involvement with International Fibrodysplasia Ossificans Association. IFOPA is a non-profit started by Jeannie L. Peeper, a patient living with FOP, in order to create a community for those living with genetic disorder. It has also served to fund research for a cure, educate families of those affected and provide support for them and their families.
The family’s new perspective on life has also inspired them to explore avenues to raise money for the organization and further research. “My husband, Scott, is an AYL delegate for his baseball team — The Raptors,” she smiled. “Scott, and the Raptors VP of Baseball Operations, Meagan Lang, came up with the idea for our fundraiser and Raptors is a key sponsor of the event.”
Named by his sister, Alli, on July 15, Bombers for Bones will be held at Douglas County Fairgrounds; a community home run derby event and skills competition. “At first, the idea started out kind of small, just wanting to get some teams together for a home run derby and a good cause,” she continued, “But it has now grown into this huge event!”
Set on two different fields, the sports competition will measure a variety of baseball skills among age groups. “When they show up, they sign in, they get their t-shirt and go down to the field,” she said.
Once participants locate their ‘skill’ assessment station, they will attempt to hit home runs off of a pitching machine, and be evaluated on things like fastest time around the bases and fastest pitch. “The best of their age groups will get a trophy,” Stephanie smiled.
The event will also be host to a slurry of activities for all ages. “Not only do we have over $14,000 in silent auction and raffle items,” she continued, “There will also be food and ice cream, race cars, a K-9 Unit, and fire trucks from Castle Rock Fire and Rescue. And as the day’s events come to a close, attendees can wind down and watch the movie the Sand Lot on the big screen.
It will be a family event that will allow Caleb and others living with FOP the chance for a better future. “Almost every day my husband and I are brought to tears by the amount of generosity in people’s hearts,” Stephanie said. “We hope the derby will be a good time for everyone who comes down and help us spread more awareness about FOP through the community.”