BARRY WILLIAMS /Special

Karlene Coleman, a nurse at Children's Healthcare of Atlanta at Egleston, holds newborn Kylie Pierce as Dr. Lisa Kobrynski checks the baby's heartbeat. Kylie has 22q11 Deletion Syndrome.

In the past, patients diagnosed with 22q11 Deletion Syndrome, a genetic condition estimated to occur in one out of every 4,000 live births, faced a bewildering road map of follow-up care.

"They might leave the hospital with five different doctors' appointments," said Karlene Coleman, MSN, CGC, of Children's Healthcare of Atlanta at Egleston and the department of human genetics at Emory University School of Medicine.

The partial deletion of chromosome 22q11 can lead to several clinical problems, including congenital heart defects, immunologic speech, cleft palates, learning disabilities and psychological disturbances. Depending on symptoms and conditions, a patient might be referred to specialists in cardiology, immunology, clinical genetics, endocrinology, craniofacial surgery, speech/language pathology — or all of them. A patient might also need to see an orthopedist, dentist or gastroenterologist because of the syndrome.

"After receiving a 22q11 diagnosis, the number of doctors and specialists to see is overwhelming," said Cheri Coyle, the mother of a child with 22q11 and an active member of the Southeast 22q support group.

Thanks to a proactive parents support group and the dedication of medical practitioners at Children's Healthcare of Atlanta and Emory University's School of Medicine, patients now have a direct line to coordinated treatment. Patients can be referred to the new Southeastern Regional Center of Excellence for 22q, a clinic that resulted from a collaboration by the two health care organizations.

"Fortunately, the new center will streamline the process of clinical visits for patients' families by turning multiple office visits at different locations into one single office visit," Coyle said.

It didn't happen by itself, Coleman said. "Lisa Kobrynski got it up and running. She had the commitment to talk to Children's about getting the appointment slots, the specialists affiliated with both institutions and work with the parents support group. A number of people were involved in this project over two years, but she was the mastermind."

"A lot of university hospitals would love to have this model, but very few have it," said Kobrynski, MD, MPH, and clinical research director for the Southeastern Regional Center of Excellence for 22q. "Either institution could see more patients with fewer complications in their exam rooms, but they graciously chose to give us the space and to provide us with a scheduler to collect pre-

appointment data."

Kobrynski first became interested in 22q at The Children's Hospital in Philadelphia, where she worked with cardiothoracic surgeons who wanted to improve the ability to diagnose the syndrome.

"This is a very complicated syndrome," Kobrynski said. "The children have so many health problems, and we've pushed for a long time to have a clinic where families could see five or six specialists in one trip. These patients have needed a medical home, where they would know who is in charge and what needs to be done."

Now, patients of all ages can see a number of doctors and receive an array of clinical services by going one day a month to either the Emory Children's Center or the Children's Center for Craniofacial Disorders at Children's Healthcare of Atlanta at Scottish Rite.

"Not only is it less onerous for people to see all their doctors at once, but it means that all the notes and recommendations are in one record that can be shared electronically between practitioners," Kobrynski said. "It's always better to provide care in a coordinated manner, to know what's happening in other systems. Better communication between specialists can reduce redundancies."

Besides providing comprehensive care, the center is dedicated to a better understanding of 22q11 Deletion Syndrome through research that will advance the diagnosis and treatment of the various disorders.

"We can study how different patients present symptoms and what therapies work well. We have several research studies under way," Coleman said.

Specialists, researchers and members of the parents support group meet monthly to exchange information. "We get incredible insights from the parents of patients," she said.

Getting the word out about the syndrome to adults, parents and educators is also a part of the mission.

"It's very common that people have the syndrome and don't know that they have it," Coleman said. "It's been recognized for a long time under various names, but it's only been since 1995 that we have had a definitive test."

Many adult patients have had various medical problems without undergoing the genetic testing that would determine the root cause of their difficulties. Among chromosome abnormalities, 22q11 is the second-most- common, and clinical researchers and staff will use the clinic, Web site and their association with the parents support group to spread the word about the latest tests and treatments.

"The response has been phenomenal," Kobrynski said. "We get e-mails all the time thanking us for what we're doing, and we're hoping to bring additional specialists on board in the future."