The Schafer family is full of performers. Living-room concerts are often on the schedule, and renditions of Broadway musical numbers usually echo throughout the house.
But just a few years ago, Margaret Schafer was in too much pain to even walk, let alone sing and dance.
When Margaret was 11, she started experiencing severe pain in her legs, hips, and shoulders. Her local physician thought it was just growing pains, but Margaret’s parents, Ben and Amy, worried the problem was more serious.
After months of increasingly intense pain, Margaret saw a pain specialist in Cedar Falls. The inflammatory levels in Margaret’s blood were extremely high, so it was recommended she see a rheumatologist at University of Iowa Stead Family Children’s Hospital.
In spring 2012, the family met with pediatric rheumatologist Polly Ferguson, MD, who instantly earned their trust.
“She looked at Margaret and said, ‘I know you don’t feel well, and I don’t know what’s wrong, but I’m going to figure out what it is,’” remembers Amy.
“It was very clear she meant it,” Ben adds. “That’s a level of care that you don’t always get at different places.”
Over the next nine months, Margaret had 14 appointments at UI Stead Family Children’s Hospital to determine what was going on. After numerous tests and procedures, Margaret was diagnosed with chronic recurrent multifocal osteomyelitis, or CRMO, an autoinflammatory disorder that causes inflammation in the bones.
This diagnosis explained Margaret’s pain, but it didn’t explain some of her other symptoms, including short periods of vision loss.
In October 2012, Ferguson found the missing piece of the puzzle—Margaret also has Takayasu’s arteritis, a rare disorder that causes inflammation and narrowing in the body’s largest arteries. These arteries, including the aorta and its branch vessels, are essential in getting blood from the heart to the rest of the body.
It can sometimes take years to diagnose patients with Takayasu’s arteritis. Because Margaret was diagnosed in a matter of months, her cardiovascular system is not as damaged as it could have been by the condition.
“I think she lives the life she does because Dr. Ferguson was able to diagnose her condition so quickly,” says Amy.
Margaret’s younger siblings are now seen by Ferguson as well—Caroline has a recurrent fever syndrome, and James has CRMO like Margaret. The family is participating in a study with Ferguson to test for possible genetic links with these disorders.
“We’re very fortunate in Iowa to have a facility in our backyard that allows us to be treated by top-notch researchers and top-notch doctors who can recognize these conditions and treat patients in a loving, caring, humanistic manner,” says Ben.
Despite medication regimens and painful injection treatments, the 13-year-old aspiring Broadway star isn’t letting anything cloud her dreams.
“I’ve discovered that it’s okay to have something like this going on. It’s just going to be a part of life,” says Margaret. “Everybody is going to have a mountain they have to get over. I’m just lucky I discovered mine so soon.”