Pediatric diseases can be tough to diagnose for many reasons
Instead of always looking for the fantastic in dream interpretation, psychotherapist Sigmund Freud occasionally encouraged people to consider things just as they are. Sometimes a cigar is just a cigar, goes a saying often attributed to him.
When children get sick, pediatricians and parents often take the same approach. Rather than thinking at first pass that a child has cancer or a rare genetic disorder, they assume that it’s an everyday malady.
Cancer incidence in children is low. The National Cancer Institute estimated that approximately 16,000 children and adolescents between ages 0 to 19 would be diagnosed with cancer in the United States in 2021, with nearly 1,800 dying of the disease. Although they are individually uncommon, rare diseases collectively have a bigger impact. According to the Government Accountability Office, approximately 15 million children in the United States have a rare disease.
“Common conditions are common, and rare conditions are rare,” says Ken Silver, MD, a pediatric neurologist at Shriners Children’s Chicago. “We are not trained to look for the exceptional cases when kids first get sick. We expect kids to be healthy — until they’re not.”
Jennifer Reichek, MD, a pediatric oncologist at Lurie Children’s Hospital, agrees. “Sometimes it takes several visits with a pediatrician to get to the right diagnosis. Doctors start by thinking about common things affecting children, and rarely think of cancer first.”
Because everyone generally works on the assumption that kids are in good health until proven otherwise, misdiagnoses and late diagnoses are baked into the healthcare system.
Take the case of Nathan Gonzalez, who began having pain in his knee and problems walking as a 9-year-old. His mother, Blanca, who was born in Mexico, searched for a year to find the root cause of the problem — a challenge made more difficult because she spoke only Spanish.
“One of his legs was shorter than the other, and the first hospital we went to in Chicago couldn’t diagnose him and didn’t have a cure for him,” Blanca says through an interpreter. “His walking and pain got worse over that year. Eventually, we went to Shriners. It took a series of tests over a four-month period to finally figure out what was going on.”
Nathan was diagnosed with Morquio disease, a genetic metabolic disorder that makes people unable to process certain types of sugar molecules. This can complicate the growth and development of their spine, bones, and organs. The National Center for Advancing Translational Sciences estimates that just 5,000 people nationwide have this rare condition.
“Educating physicians, genetic doctors, and pediatricians so that they know the condition exists is really important. If providers are prepared to recognize it and other rare diseases, they can refer that patient to the appropriate metabolic bone specialist, neurologist, or geneticist.”
Blanca and Nathan found an appropriate diagnosis and treatment. But a long search can be dangerous, in addition to challenging. Not only is the child potentially in pain, but early treatments typically lead to the best outcomes.
Fortunately, there are ways that providers and families can avoid misdiagnosis or late diagnosis for children. By paying attention to their child’s symptoms, asking the right questions of them and the doctor, and remaining calm and focused on getting answers, parents can navigate healthcare’s tangled web to eventually find an accurate diagnosis.
Rare disease education
Silver says that conditions like Morquio syndrome are so rare that the chance a provider will see a patient with it in their lifetime is essentially zero.
Yet, “educating physicians, genetic doctors, and pediatricians so that they know the condition exists is really important,” Silver says. “If providers are prepared to recognize it and other rare diseases, they can refer that patient to the appropriate metabolic bone specialist, neurologist, or geneticist.”
Joshua Levin, MD, pediatrician at PediaTrust, a collection of 12 independent pediatric practices, agrees with Silver. “Rare disease education would assist in helping us stay fresh and encourage us to consider them in our differentials during our patient visits,” he says.
Levin imagines doctors would learn best through a combination of webinars, vignettes, and in-person seminars.
A parent can ask their child’s physician about their training in this area. If they don’t feel comfortable with the doctor’s response, they could pursue a second opinion.
Providers’ time with patients
Reicheck says the current health system in the U.S. operates in a way that gives physicians inadequate consultation time with their patients. “The system tries to make visits short and gives providers limited time with patients,” she says, adding, “We’re stretched so thin that we oftentimes have to hurry through our time with patients. Fifteen minutes isn’t enough.”
With the time available, Reicheck encourages physicians to “put down the stethoscope, stop writing their notes, and listen to the history of the patient. Because 95% of the time if you really listen, you can start to make a differential diagnosis.”
Parents can help here by keeping a list of their child’s symptoms and sharing a copy with the physician, who can review it in the moment and refer to it later as needed. Writing down questions ahead of time can make the most of limited appointment time, too.
Family health literacy
Pediatricians are trained to ask questions of children that can lead to an accurate diagnosis. Parents are not. And this influences whether a parent decides to take action.
Several other factors also play a role: how comfortable parents are with health information, how tuned in they are to their child, and prior experiences (both good and bad) with the healthcare system — just to name a few.
Reicheck says that no matter a person’s age or how well intentioned they are with their health, parents can sometimes get in their own way. Even she as an oncologist has trouble tracking her son’s symptoms at times.
She adds, “People of color or from other minority populations sometimes do not feel comfortable advocating for themselves or their children, which means they may not be heard well about medical issues. They may not realize that they can demand some medical attention if something’s wrong with their child.”
In the course of the school day, Reicheck says teachers can be an extra set of eyes and ears to alert parents if their child is not feeling well. If parents suspect something is amiss, they can ask the teacher what they notice during the day.
“If the complaint from the child is the same at home and at school, that information can catalyze quicker parental action,” Reicheck says.
Nathan Gonzalez is now 14 and doing well; he’ll get an injection once a week for the rest of his life to treat his condition. In hindsight, Blanca says she feels grateful for her son’s health.
“I don’t feel guilty that it took so long for him to finally get diagnosed,” she says. “I saw the impediments we had earlier as challenges to overcome to get him on the right track. I’m just so happy about where he is today.”
Originally published in the Spring/Summer 2023 print issue.