Melissa Flavin knew there was something wrong with her daughter Bridget, and during a family outing to Pizza Hut she became determined to find out what was going on.
"She was crying, sitting in a booth at Pizza Hut," Flavin said. "She was just crying the whole time because it hurt to sit."
There were other symptoms as well. Bridget was having painful lesions on her skin — namely on her feet, knees and elbows. She suffered bone pain in her back, hip and feet.
"She was unable to walk at times," Melissa said. "She had a cane to help her. There were some days that were so bad, she was in a wheelchair. ... We had a shower chair for her to try to shower, but not use the tub because it was so hard to get in out of the tub."
Now 9 years old, she would routinely walk like someone 10 times her age.
The family was taking her to doctors, seeking diagnosis. Colitis was found, but did not explain the skin lesions and bone pain.
They were referred to Children’s Mercy Hospital and a rheumatologist. It was there they would get a diagnosis: SAPHO. Her family spent about a year finding a diagnosis for what ailed her.
SAPHO syndrome is listed as a "rare disease" by the Office of Rare Diseases of the National Institutes of Health, meaning the syndrome affects less than 200,000 people in the U.S. population.
"To be honest, we felt lucky she got the diagnosis," Melissa said. "Her rheumatologist we were referred to in Kansas City had never seen it before. He had heard about it during school. When we presented her symptoms he said, ’It sounds familiar, but I really don’t know.’ He actually had to google it."
After looking up the disease, a full-body MRI was ordered. The Flavin family was on their way back home to Halstead when doctors called to confirm the diagnoses.
Bridget was diagnosed with SAPHO, a disorder rarely found in children.
According to the National Institute of Health, SAPHO syndrome involves any combination of synovitis (inflammation of the joints), acne, pustulosis (thick yellow blisters containing pus) often on the palms and soles, hyperostosis (increase in bone substance) and osteitis (inflammation of the bones). The cause of SAPHO syndrome is unknown, and treatment is focused on managing symptoms.
"It is a chronic disease, so it is not going to go away," Melissa said. "There are treatments to get into a sort of remission so they do not have a lot of symptoms."
According to the NIH, there is no specific treatment plan for SAPHO syndrome. It can be a chronic condition but sometimes eventually heals on its own. Joint pain may be managed with nonsteroidal anti-inflammatory drugs and prescription vitamin A is used to treat the acne.
Bridget now gets a monthly remicade infusion in Wichita each month and an osterperosis drug quarterly. A full-body MRI is due in November to check her bone lesions.
"It has been quite a ride," Melissa said. "It has been advocating for your child and knowing you are not crazy and knowing you are doing everything right. You keep pushing the doctors, and they know something is wrong but not just what."
In a few months of treatment, Bridget feels better. Melissa said she’s almost a normal kid.
"Not quite, mom," Bridget said.
She can walk, talk and play like other children — though there are concerns. She has to be careful when running, jumping and exerting herself.
"If the lesions are still on her spine, she is at a higher risk for fractures," Melissa said. "Her bones are weaker than what other kids have."
The family has told Bridget’s story, and joined online discussion groups about SAPHO, in an effort to raise awareness. The hope is that Bridget can get people thinking about SAPHO.
And that has worked.
"Her gastroenterologist has been able to help another kid get diagnosed with SAPHO," Melissa said.