Super sleuth

patient and doctor
A telemedicine consultation with Lindsey Loomba-Albrecht (right) led to the diagnosis of a rare genetic disorder affecting Naomi Wharton's family for generations.

For second-year UC Davis pediatric endocrinology fellow Lindsey Loomba-Albrecht, the diagnosis was literally the discovery of a lifetime – the lifetime of her patient, Naomi Wharton.

For more than two years, 12-year-old Naomi’s enlarged thyroid gland and nodules baffled her doctors in Redding. The condition didn’t trouble Naomi, but a nagging feeling told her pediatrician something wasn’t right.

But what? It was hard to tell in the community of 100,000. Redding has no specialists who treat children with glandular, or endocrine, problems. And the family would be hard-pressed to make the trip to UCDavis Medical Center for evaluation.

Going paperless

Michael Minear
Michael Minear

As the health system’s new chief information officer, Michael Minear is overseeing the shift from paper files to electronic medical records throughout the hospital and ambulatory care clinics. The traditional handwritten orders, patient charts, and film-based clinical images are now almost completely digital, enhancing patient safety by improving accuracy, efficiency and access to patient-health history and knowledge.

Having clinical data in an electronic format can be a life saver. For example, information that automatically links to vital online resources, such as medication dosages and allergy alerts, enables providers to check details before ordering and administering drugs. Other highly sophisticated technologies and new software applications are improving access to medical information. With My Chart patients will be able to access their own medical records. Through the NIH-funded Informatics for Integrating Biology and the Bedside project (i2b2), researchers can securely access clinical data from which patient identifying information has been removed to spot health trends, create comparison groups and better understand the genetic basis for complex diseases.

An alternative was discovered when doctors referred Wharton to the Shasta Community Health Center, which has a telemedicine partnership with UC Davis that allowed Naomi to be seen by a specialist — from 300 miles away.

What Loomba-Albrecht heard when she talked with Naomi, her pediatrician Patricia Sand, and her mother, Mandi Wharton, riveted and intrigued her.

Eight people in Naomi’s family had either been diagnosed or died from thyroid or adrenal cancer.

"It's quite possible that this workup and eventual treatment can be lifesaving for this family."
— Lindsey Loomba-Albrecht, M.D.

“Mom was worried because she had so many relatives die of thyroid cancer,” Loomba-Albrecht recalled recently. “Eight had had cancer or died from it,” she said.

As a specialist in endocrinology, Loomba-Albrecht knew that Naomi’s symptoms were consistent with multiple endocrine neoplasia type A, a known genetic disorder that causes cancer in both the thyroid and adrenal glands.

The patient, and her entire family, needed genetic testing, which Loomba-Albrecht ordered right away.

“I would say that by seeing this individual patient we can have a beneficial effect on a large number of patients by helping to diagnose and treat them if necessary,” Loomba-Albrecht said. “We want to get started on Naomi and her brothers, and then other family members who are potentially at risk. It’s quite possible that this workup and eventual treatment can be lifesaving for this family.”

Over the next three years, the California Telehealth Network will provide free broadband connections to sup­port more telemedicine clinics like the one that is helping the Wharton family. Funded with a grant from the Federal Communications Commission and jointly managed by UC Davis and UC Office of the President, the network will link approximately 500 primary-care sites, tribal clinics, rural hospitals and teaching hospitals like UC Davis Medi­cal Center. Federal plans also include linking California into a nationwide telehealth network that would strengthen emergency preparedness training and disaster communications.

Mandi Wharton is really grateful for the specialty care her daughter and family will now receive, and will always remember how easy it was to connect with a doctor who was hundreds of miles away.