“When the Diagnosis Is Rare, Parents May Know More Than Professionals”

This is a New York Times blog post written by David R. Wheeler

 

Despite reassurances from their pediatrician, David Faughn and Glenda McCoy, new parents, knew something was wrong with their baby, Katherine.

It was April 2012. They had expected Katherine to continue to hit all the developmental stages right on time. They even expected her to start walking early. But at 9 months old, something happened. Katherine’s development started to plateau. To make matters worse, David and Glenda thought Katherine was beginning to exhibit a slight tremor and difficulty maintaining her balance.

At her 2-year appointment, when Katherine was still not walking, the pediatrician finally acknowledged that something was wrong. That is when David and Glenda began their foray into the medical field — not as doctors, but as experts in the rare and fatal disease that Katherine may be suffering from: Infantile Neuroaxonal Dystrophy (INAD). Nowadays, David and Glenda’s pediatrician defers to their expertise.

Thanks to the widespread availability of medical literature and an increase in online information-sharing, parents can become more knowledgeable than ever about their children’s health and medical conditions. Especially in the rare disease community, parents’ knowledge can often easily surpass that of the children’s doctors.

Some pediatricians and specialists resist the idea of a parent taking the lead in decisions regarding diagnosis and treatment. But other doctors have begun to embrace the expertise parents can bring to the examination room.

“Parents — and patients themselves — can be invaluable assets in making great breakthroughs in patient care, especially with rare diseases,” said Dr. Ellen Rome, head of adolescent medicine at Cleveland Clinic Children’s. “Families represent a motivated group striving to find what is best for their loved one, and may have the time and energy to sift through information to find that one pearl that helps a child or adolescent turn the corner.”

Many parents of children with rare diseases will understandably dedicate their lives to researching their children’s condition. This dedication, in turn, can mean that even as they turn to medical professionals, those professionals will look to them for guidance.

Such is the case with Cristina Might, whose son Bertrand suffers from a unique genetic disorder. Many times, doctors have had to rely on Cristina’s expertise over their own.

“On our most recent trip to the ER with Bertrand for bacterial pneumonia, I found out that there are multiple notes from Bertrand’s specialists in his file that explicitly say, ‘Listen to his parents; do what they say, ‘” Cristina said. “That was humbling, touching and a bit overwhelming. But this respect was hard earned.”

Indeed, doctors defer to Cristina and her husband on all manner of medical decisions, from whether Bertrand should have hip surgery to the proper dosage for his seizure medications.

Today, David and Glenda are accustomed to being the experts; in fact, they occasionally know more than the specialists at renowned children’s hospitals. This turn of events was completely unexpected for David, a lawyer, and Glenda, a writer and photographer.

“We, as parents of a child thought to be dying of a rare disease, think of little else,” said Glenda, who blogs about their situation at Hope for Katherine Belle. “We research, familiarize ourselves with medical jargon, and read scholarly and nonscholarly journals and articles on each and every possible condition that may be present in our child.”

Because the INAD test results were never conclusive, Glenda and David continue the exhausting search to pinpoint Katherine’s rare disorder. The next step appears to be whole exome sequencing, a new (and expensive) genetic test. The test can help determine which rare disease a person is suffering from, or possibly document a new disease with no other known cases.

These days, Katherine’s tremor seems to have improved. But the unknown condition causing progressive atrophy in her cerebellum continues to affect her balance and her speech.

“She is a smart, funny, happy and sweet little girl,” David said. “Without a diagnosis, we have no idea what the future holds.”

This two-year journey has led David to a sobering conclusion about the medical profession.

“While we expect our physicians to be experts in all things medical, the truth is they are not,” David said. “They specialize and often have little knowledge outside the area of their expertise. In the case of these rare diseases, most physicians who will treat your child have never even heard of — much less have any degree of medical expertise in — the disease at hand.”

David R. Wheeler is an Assistant Professor of Journalism at Asbury University. Follow him on Twitter: @David_R_Wheeler.

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