Special Emory Clinic Seeks to Diagnose Rare Diseases

Emory Special Diagnostics Patient

Rheumatologist Heather Gladue, DO, sees patient Drew Crenshaw during a check-up at Emory following his diagnosis of severe gout.

Emory Healthcare patient, Drew Crenshaw, was just 18-years old when he started down his six-year journey to diagnosis. After seeking medical help for crippling ankle pain, X-rays revealed that Drew had minor stress fractures in both his feet. Wheelchair bound for six months with casts on his feet, Drew withdrew from college and returned home to recover. But even after his casts were removed, Drew’s pain not only continued, but spread to all of his joints.

“Some days, the pain was so bad I could not even get out of bed,” says Crenshaw. “My shoulders, knees, elbows, fingers and ankles were all affected. Everything hurt.”

After visiting doctors and health care facilities in several states, Drew came to Emory’s Special Diagnostic Services (ESDS), a year- old practice dedicated to evaluating patients with undiagnosed symptoms and/or illnesses. There, the multidisciplinary team strives to improve each patient’s health by thoroughly reviewing his or her medical history before referring on to the appropriate Emory specialist for treatment.

Rare and hard-to-diagnose diseases present extremely difficult problems not only for patients and their families, but also for their physicians who struggle to identify and treat these disorders. Often, patients experience symptoms that can last for years without a diagnosis, which can result in treatment delays, repeated diagnostic testing and increased spending.

After spending five days in Emory University Hospital, Drew’s care team diagnosed him with a severe case of gout, a condition often characterized by recurrent attacks of severe inflammatory arthritis, but uncommon in patients his age.

“With a diagnosis confirmed, the team ordered specific medications for Drew while getting all of his biochemical levels back in balance,” says Debra Cohen, RN, nurse navigator at Emory Special Diagnostic Services. “Our specialists really worked together to help this young man, who had been suffering with extreme pain and discomfort for months.”

For every case presented, the physicians and care team at ESDS take time to review and form a complete picture of the patient’s condition. Led by medical director Clyde Partin, MD, ESDS physicians work with experts across every specialty area at Emory, coordinating efforts to evaluate and diagnose each patient’s illness. This multidisciplinary care team approach allows patients to be seen and evaluated by a team rather than going from one doctor to the next in search of a diagnosis.

While an absolute diagnosis is not always possible, the ESDS team devotes as much effort as needed in an attempt to determine the source of the problem.

“Our mission is to bring our best resources together to illuminate the patient’s problem and where possible, provide a diagnosis to empower patients to manage their disease,” says Partin, associate professor of medicine at Emory University School of Medicine. “We believe this service will benefit many people who have been in trying to identify an unknown illness.”

Today, Drew is back in college, pain-free and thriving, almost six years after his pain first began. He returns regularly to visit the Emory Special Diagnostic Services for check-ups.

“I’m not sure where I would be today without the outstanding care from the Emory Special Diagnostic Services,” says Crenshaw. “They truly saved my life.”

Check out this video to see more of Drew’s story

To see if you are eligible to become a patient at the Emory Special Diagnostic Services, view our online questionnaire or call 404-778-0990 to speak with a member of our team.

Additional Resources

Learn more about our ESDS team including: David Roberts, MD, the Charles F. Evans Professor of Medicine; Jonathan Masor, MD, associate professor of medicine; Thomas Jarrett, MD, assistant professor of medicine; Sharon Bergquist, MD, assistant professor of medicine and Debra Cohen, ESDS nurse navigator.

For additional questions, please view our Frequently Asked Questions.

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