Listening for Clues

Sometimes it takes ‘old-school’ skills to crack a complicated medical case 

It was a complicated medical mystery with a surprisingly simple solution.

A girl was referred to Cincinnati Children’s diagnostic clinic for evaluation of bruises, stiffness and pains in her legs, weight loss, and swollen and painful gums. She was anemic. She had normal clotting studies despite the diffuse bruises. These problems had lingered for three weeks and were getting worse. Her parents and referring physician were at a loss.

The girl had been examined by several specialists who ordered a wide variety of tests, yet could not pin down what was wrong. Did she have a blood disease? An immune disorder? Perhaps she suffered from a rheumatologic condition?

“She turned out to have scurvy,” says David Hall, MD, who cracked the case. “Her parents reported that she was a very picky eater. All she ate were eggs, rice, grits, beans, small bites of toast and an occasional candy bar. With the assistance of a nutritionist, we determined that her daily vitamin C intake was minimal. We started vitamin C supplements and within a week, her symptoms improved dramatically and later resolved completely.”

Hall is Cincinnati Children’s version of “Dr. House” – the surly television character who solves obscure and complex medical cases – minus the grumpiness and arrogance. Hall is the new director of the Diagnostic Clinic at Cincinnati Children’s – a service that other physicians can use when they need assistance sorting out unusual, complex or otherwise hard-to-diagnose cases.

Sometimes physicians are seeking quick second opinions. Such cases often can be handled in a day. Other times, however, Hall spends weeks, even months, untangling knots of vague symptoms and inconclusive test results.

The generalist

“I wouldn’t want to say I’m like Dr. House,” Hall says. “I don’t claim to be smarter than everyone else, but it can be helpful to take a general approach to making a diagnosis. In addition, our clinic is set up to take the time necessary to sort through problems, which can be difficult to do in a busy primary care office.”

Hall took on the Diagnostic Clinic role in July 2010. Previously, he had served as medical director of Children’s Healthcare of Atlanta at Scottish Rite, a 250-bed pediatric hospital, where he ran a similar clinic. He also served as a pediatric hospitalist for 18 years at the Atlanta hospital and previously was in private practice in Baltimore for 10 years.

Hall’s training included graduating with honors from the University of Chicago School of Medicine, followed by residency at Johns Hopkins Hospital, where he also completed a Robert Wood Johnson fellowship in general academic pediatrics and served as chief resident.

Here, Hall splits his time, taking on special cases from the Diagnostic Referral Center while also working with a team that supports local children with medically complex special needs.

The Diagnostic Clinic includes Ted Sigrest, MD, a hospitalist at Cincinnati Children’s and several nurses who also work in the special needs program.

“Diagnosing special cases is becoming a bigger part of my work,” Hall says. “Cincinnati Children’s has developed such a national reputation that we are getting increasing numbers of referrals from a distance away.”

Taking time to listen

Even though most cases come to Hall through physician referrals, sometimes families find him on their own.

After learning about Hall during an internet search, Brandi Hornick flew last year from Florida to Cincinnati to seek a fresh look at a frustrating set of problems afflicting her 12-year old daughter, Sydni.

“I can’t tell you how wonderful it was for us to finally find someone who would listen,” says Hornick. “A lot of other doctors don’t want to spend the time. They want to base decisions on just the common things. But sometimes people don’t have the common things. Dr. Hall was willing to figure it out for us. He definitely investigates and goes further.”

For Sydni, trouble began in November 2009, when she suffered multiple infections. By March 2010, despite antibiotic treatments, she began experiencing chronic, severe pain.

“She had sharp shooting pains throughout her whole body. It got to where she could hardly walk. She also had burning sensations and tremors. She wasn’t able to go to school,” Hornick says.

Over a period of several weeks, Sydni was seen by several doctors. She spent three days in a hospital near their home in Lake Placid, FL.

“They did a whole bunch of lab work but no one could tell us what was wrong,” says Hornick.

Not having a clear answer when a child is suffering can be frustrating for any parent. But for the Hornick family, Sydni’s ordeal was especially unnerving, because in 1997 Brandi’s oldest daughter, Tori, had been diagnosed with a rare form of cancer – a germ cell tumor, also known as a yolk sac tumor.

Pinning down Tori’s condition was its own medical odyssey, with the family going from doctor to doctor, hospital to hospital. Ultimately, Tori was successfully treated. Thirteen years later, when Sydni faced a hard-to-diagnose situation, all those memories came flooding back.

“When we didn’t know what was going on with Sydni it was very scary,” Hornick says. “I was nervous that something was being overlooked.”

It takes time

Hall says his diagnostic work is not much different than what pediatricians do every day, except that his position gives him the time to dig a bit deeper.

“I think every doctor is a medical detective. But my job is to take the time to ferret out a medical mystery,” Hall says.

When Sydni Hornick arrived at Cincinnati Children’s, she was admitted for a new round of testing while Hall began his investigation.

Hall’s methods blend his personal experience with a rigorous approach to fact gathering. He scours the existing medical record. He consults with referring physicians. He speaks with the patient and family, often multiple times.

Then he pursues a methodical “rule-out” process. This involves listing the many possible conditions that might share the often-vague symptoms that patients report – sometimes using computer programs to flesh out which conditions might match the symptoms. Hall then uses test results to whittle down the possibilities to the single most-probable diagnosis, which is then further confirmed by how the patient responds to treatment.

Wide-ranging cases

A wide variety of cases have crossed Hall’s path over the years. He recalls a 16-year-old boy with a waxing, waning mononucleosis like illness. His symptoms included headache, mild sore throat, fatigue, fever and 40–70 percent atypical lymphocytes on peripheral blood smears. However, throat cultures, titers for mononucleosis, CMV and toxoplasmosis were negative.

On a hunch, Hall ordered an HIV test, which returned positive.

“That was a sad case. He turned out to have primary HIV infection,” Hall says. “He hadn’t been tested for HIV because no one suspected that he had any risk factors, although later we learned that he had engaged in risky sexual contact with same-sex partners.

“Primary HIV infection syndrome usually appears within six weeks of initial exposure. The illness is easy to miss because the manifestations of infection resolve on their own,” Hall says. “The classic symptoms of AIDS don’t appear until much later.”

Other interesting cases Hall has encountered include:

  • Children with persistent fever who actually had cat-scratch disease
  • A 2-month-old baby with a “cold since birth” who turned out to have nasal congestion due to congenital syphilis
  • An infant with salmonella sepsis that she picked up from reptiles sold at her father’s business
  • A child referred for paroxysms of nose sniffing, eye blinking, throat clearing and facial grimacing that had been attributed to allergies, but turned out to be Tourette’s syndrome

Sometimes, it's simple

Not all mysteries involve exotic conditions.

“Many cases are referred when the parents request a second opinion but the diagnosis is not in doubt. It’s reassuring for parents to hear that their primary care physician has done an excellent job and has been completely appropriate in the care of their child, which in fact is almost always the case,”says Hall.

“A lot of what I see is what I refer to as mind-body problems…headaches, fatigue, and stress related illnesses. There is no exotic disease to find to explain their symptoms – although the parents may think there is,” Hall says.

By the time they reach Hall, many of these patients have been to three or four doctors or more. Many tests have been run. Sometimes the sheer number of tests complicates making a diagnosis.

“If you order enough tests on anybody, there’s a good chance that something will come back abnormal,” Hall says. “Those results may not have anything to do with the symptoms bothering the patient, but they can lead you down the wrong path, leading to even further testing and uncertainty.”

Pinning down such diagnoses can take time. But it also offers closure.

“I explain the conditions and what can be done. In many cases, this helps stop the cycle of looking for increasingly rare and unlikely causes of the symptoms.”

Answers for Sydni

Sydni ultimately was diagnosed with a chronic pain syndrome similar to fibromyalgia, as well as chronic fatigue. The diagnosis helped the family in two important ways. The family was relieved to learn Sydni did not have cancer. And the treatments Hall recommended finally helped her. He prescribed medications, massage therapy, exercise, counseling and biofeedback techniques to control pain. A significant goal of her treatment was to get her back in school and her usual activities.

“When we got back home to Florida, it was touch and go for a while,” Sydni’s mother says. “It took a total of 11 months for her pain to be under control. But now she’s doing well. She’s back to school, getting good grades. She swims, plays tennis, dances, and plays guitar and piano. When she was in pain, she had quit all of that.”

Hall considers Sydni’s outcome a success. He gives most of the credit to her mother for serving as such a strong advocate and persisting with treatment.

“There’s a definite therapeutic value to knowing the diagnosis,” Hall says. “The unknown is worse than reality, in most cases.”