Multidisciplinary care team collaborates to help patient with Down syndrome thrive
When Sarah Lowry and her husband moved to California, it seemed natural to search for pediatricians who were located near her new home. Lowry, who is a pediatric nurse, had hoped to find care that was collaborative and patient-centered for her toddler son, who has Down syndrome and health-related problems, including a heart defect, breathing problems, and sleep issues.
Disappointed with the care he received, Lowry soon switched to doctors in the Stanford Children’s Health network, where she found an extensive team of specialists who could treat Emmett as he grew up. The Lucile Packard Children’s Hospital Stanford cardiologists, pulmonologists, and otolaryngologists worked together to care for all of Emmett’s conditions seamlessly and holistically. “They care for my child as a whole child, and not as a child with Down syndrome,” Lowry said. “Each doctor sees my child as an individual.”
Down syndrome, which was diagnosed prenatally, is a common genetic abnormality often associated with heart conditions, learning disorders, and vision and hearing issues, among other problems. Emmett, who is now 2½ years old, has one of the most common heart problems in Down syndrome, an atrial septal defect, or a small hole in his heart between the right and left atria. He also had breathing issues that caused restless sleep.
Since Emmett’s most pressing problem was a heart issue, his first appointment at Stanford Children’s Health was with network cardiologist Michael Tran, MD, of Pediatric Cardiology Associates Los Gatos. “It’s hard to find someone with both experience and compassion,” said Lowry. “Dr. Tran has both. He treated Emmett like one of his own children.
“Dr. Tran likes to keep a closer eye on Down syndrome patients and spent more than an hour discussing Emmett’s condition,” she added. On Emmett’s first visit, Dr. Tran not only did a physical exam and assessed Emmett’s overall state but also reviewed his medical records with a fresh set of eyes.
Approximately half of children with Down syndrome have an atrial septal defect, according to Dr. Tran. “Heart issues used to cause more serious problems for Down syndrome children, but thankfully today, most do very well with medications and surgery,” he added. Depending on size, an atrial septal defect can cause a child to tire easily; exhibit fast breathing, shortness of breath, and irregular heartbeat; grow poorly; and have frequent respiratory infections.
“Emmett’s atrial septal defect is not small but not large,” said Dr. Tran. In many cases, the hole closes by the time a child goes to school, and Dr. Tran is cautiously hopeful that Emmett’s may resolve. If Emmett’s atrial septal defect doesn’t close and requires heart surgery in the next few years, Dr. Tran will refer him to a heart surgeon at Stanford Children’s Health. As a cardiologist, Dr. Tran provides pre- and postoperative care but doesn’t perform surgery; for heart surgeries or repairs, he relies on the expertise of the Betty Irene Moore Children’s Heart Center surgeons.
Emmett’s prognosis after surgery would be excellent, he added. “Once the atrial septal defect would be repaired, Emmett’s life would be as good as any child with Down syndrome. His heart will function like anyone else’s. Atrial septal defect surgery is considered a relatively easy heart procedure, especially for the experienced cardiothoracic surgeons at Packard Children’s Hospital. Advancements in the past few decades have all but eliminated poor outcomes.” Today, technology and surgical skill can make heart surgery less traumatic and more successful, with children spending only two to three days in the hospital in most cases.
Since Emmett might need heart surgery in the future, Dr. Tran ordered an echocardiogram on one of his first clinic visits to get a closer look at his atrial septal defect. Emmett needed to be sedated for the echocardiogram, since a toddler couldn’t stay still for the 30-minute imaging. Dr. Tran looked for an opportunity to have the echocardiogram done at the same time Emmett would be under anesthesia for another procedure, to limit the number of times he would be sedated. “It’s wonderful that my child’s needs were considered,” Lowry said.
Dr. Tran coordinated with Stanford Children’s Health pediatric otolaryngologist Douglas Sidell, MD, and the Moore Children’s Heart Center cardiac imaging team for an echocardiogram to be done during a tonsillectomy that was scheduled for Emmett. He was going to have his tonsils and adenoids removed because they were causing breathing problems and sleep apnea, as they often do in children with Down syndrome.
“We coordinated Emmett’s tonsillectomy with his cardiac echo along with an esophagoscopy, airway endoscopy, and evaluation of his ears,” Dr. Sidell said.
Emmett was referred to Dr. Sidell by Diana Chen, MD, a pediatric pulmonologist, who first did an overnight sleep study on Emmett because he wasn’t resting well. “Emmett was restless and not sleeping well at night,” she said. “He would stir, cry, and sometimes snore.” She diagnosed him with obstructive sleep apnea, a common condition in children with Down syndrome, given their lower muscle tone and narrower airways.
Dr. Chen initially treated Emmett with supplemental oxygen because she didn’t think he would tolerate a continuous positive airway pressure (CPAP) machine. Since his tonsils were large, she referred him to Dr. Sidell for tonsillectomy evaluation.
Clinical collaborations like these are commonplace, since “the hospital’s infrastructure is very strong,” according to Dr. Tran. “Stanford Children’s Health has been very successful in creating a network of physicians and setting up a referral system,” he said. “The Betty Irene Moore Children’s Heart Center team is especially good at this. We [the network physicians] make one phone call and everyone moves like a well-oiled machine,” Dr. Tran added.
Emmett’s pediatric otolaryngologist or ear, nose, and throat specialist, Dr. Sidell, agrees. “At Stanford Children’s Health we have open communication between the physicians and a lot of overlap in the care we provide to children with cardiac and pulmonary issues. We provide multidisciplinary care.”
Dr. Chen also agreed that the subspecialists work really well together and coordinate procedures, particularly when a patient has anesthesia. “We often have shared patients. I’m frequently in communication with the ear, nose, and throat doctors. We coordinate and do combined procedures. Anytime a patient undergoes general anesthesia, we try to do multiple procedures so kids don’t have to be sedated multiple times.”
While Emmett’s care is what Sarah Lowry calls a “balancing act,” she said that she appreciates how easy the team makes it. “Everyone is helpful, and Emmett has received the most amazing care,” she said.
Emmett is doing well, enjoying preschool, and thriving. “A lot of parents are scared when they have a child with Down syndrome,” she said. “I wanted to shed a positive light so others can be assured that their child will be loved and cared for at Stanford Children’s Health.”