5-year-old gets partial diagnosis for mystery illness
A La Crescenta Elementary School student who has suffered a lifetime of enigmatic health problems has finally started to get some answers following extensive testing at a federal research center.
Reece LoCicero, 5, has been diagnosed with cutaneous mastocytosis, a reactive skin disease that typically improves as a patient ages, said Gretchen Golas, a pediatric nurse practitioner at the Undiagnosed Diseases Program at the National Institutes of Health in Maryland.
That the disease appears to be confined to his skin, and not throughout his body, should bring some hope, she added.
“We feel very comfortable that it is just confined to the skin, and the fact that it is going to get better while he grows is good news,” Golas said.
It was at least one answer for a litany of troubling symptoms — including severe fevers, internal bleeding, labored breathing and lesions — that Reece has suffered since infancy. He and his family traveled to the research facility last month for a week of medical testing, after which he was also diagnosed with asthma.
Natalia LoCicero said it is a relief to receive at least a partial diagnosis.
“We feel a little bit better, but it still doesn’t answer our questions as to why he has the gastrointestinal bleeding,” Reece’s mother, Natalia LoCicero, said. “It answers some questions, but it doesn’t answer all of them.”
The medical team does not yet have definitive answers for his more serious respiratory problems, nor for his internal bleeding. Experts working on his case are now considering whether Reece might have different medical problems unrelated to each other, rather than a single disorder, Golas said.
“When we initially we looked at his records we were like, ‘This must be some new disease,’” Golas said. “But after evaluating him and looking at each individual thing, we thought, ‘It is probably not related.’ But we have not thrown that hypothesis out the window.”
Launched in 2008, the Undiagnosed Diseases Program is dedicated to the study of undiagnosed and rare diseases, as well as unusual occurrences of more common diseases. There, patients have access to the latest medical technology and diagnostic resources, including a technique that allows doctors to identify genes associated with specific diseases and disorders.
After starting the painstaking application process in November, Natalia LoCicero learned in March that her son had been accepted into the program. The trip to Bethesda came at no cost to the family, which had taken out thousands of dollars in loans and moved in with Reece’s grandmother amid mounting medical bills.
When the Reece’s story became public early last year, they were embraced by community members who staged fundraisers and special outings to help ease their burden.
The LoCicero family will meet in the coming weeks with a nutritionist to design a histamine-free diet that doctors think might help ease Reece’s symptoms.
“The main thing right now is just to watch him,” Natalia LoCicero said.