By IOWA STEAD FAMILY CHILDREN’S HOSPITAL
IOWA CITY, Iowa — At age 3, Charlotte Keller (Bellevue, Neb.) was diagnosed with a rare disease — chronic recurrent multifocal osteomyelitis (CRMO) — after experiencing severe leg pain.
“She just very adamantly started complaining about pain in her right thigh,” recalls her mom, Robin. “One night she screamed out in pain because her leg hurt so bad. I took her to an urgent care (clinic), where we started this incredible journey.”
A barrage of tests at their local hospital identified a large lesion through Charlotte’s pelvis and hip, and the hospital team asked Robin and her husband to run infusions for Charlotte at home.
“Twelve weeks in with her infectious disease team, and after many reactions to many different medications, her father and I said, ‘Enough,'” Robin recalls. “We accepted the diagnosis of CRMO. From that point on, we had to accept all of these painful days and painful nights as our new normal, because that was now Charlotte’s new normal.”
A year later, her local rheumatologist referred Charlotte to University of Iowa Stead Family Children’s Hospital.
“He said, ‘There is someone who sees many, many children with CRMO at UI Stead Family Children’s Hospital,'” Robin remembers. “The fact that she had several patients traveling to see her was already showing us a light at the end of what we thought was going to be a very difficult tunnel to navigate.”
Robin explains CRMO as a genetic autoinflammatory bone disease.
“Charlotte’s inflammatory system kind of battles with her immune system, and the end result are these lesions,” she says. “Some of the lesions have caused bone expansion or bone bulging that is absolutely debilitating.”
Charlotte was in severe pain on the four-hour trip from their Nebraska home to their first appointment in Iowa City.
“We were in constant contact with the office because we had to keep stopping,” Robin recalls. “The minute she was in a room having her vitals done, pediatric rheumatologist Polly Ferguson, MD, was in that room with us.”
Ferguson immediately called for further tests.
“She stayed in the clinic that night waiting for those results,” Robin says, adding that Ferguson even cooked soup for Charlotte. “It wasn’t until she knew that our daughter was going to be medically stable that night that she went home. From that moment on, we knew that we were in the absolute best place we could have possibly been for her.”
When additional test results came in, another doctor told the couple: “‘The good news is Charlotte does not have leukemia. The bad news is Charlotte does not have leukemia.'”
“We immediately thought, ‘Why is it ever a bad thing that it was not leukemia?'” Robin recalls. “He answered, ‘Leukemia has a cure. CRMO has a hope of remission, but there is no cure.'”
Still, Charlotte improved with the medical team’s advice.
“We were not stuck on an island by ourselves anymore,” Robin says. “We were suddenly in an ocean full of knowledge, and it gave us hope.”
When Charlotte later experienced fatigue and other symptoms, she also was diagnosed with Ehlers-Danlos syndrome (EDS), a connective tissue disorder.
“Her ligaments and her tendons don’t hold her joints in place,” Robin explains. “CRMO is a one in a million diagnosis. EDS is fewer than 200,000 cases a year.” Current treatment includes infusion therapy every three months.
“It’s very important for Charlotte to be seen by a team of specialists because her diseases encompass so many different parts of her,” Robin adds. “To be able to truly treat her as a whole person, she needs that expertise. It is, hands down, the best care that our daughter could receive anywhere in our country.”
Today, Charlotte enjoys skating, swimming, and yoga.
“She is resilient, and she is just an absolute warrior,” Robin says. “She has absolutely taught me that perseverance really is a matter of perception.”