ENDOCRINOLOGY & DIABETES In 2020, the Division of Pediatric Endocrinology and Diabetes continued to grow in its clinical programs and research endeavors, expanding its breadth to incorporate the Glycogen Storage Disease Program within its realm. The overriding mission of the division continues to be focused on improving the health and quality of life of patients through our clinical expertise, compassionate care, and research investigations aimed at the development of new treatments. The division’s research endeavors were innovative in 2020, and they include investigating mice that we sent to the International Space Station to study bone and muscle loss, and heading the largest multinational gene therapy trial for patients with Glycogen Storage Disease Type Ia. This past year was highlighted by geographic growth and innovation. Our outpatient clinics in Farmington, Glastonbury, Hartford, and Shelton continued to run full-time during the pandemic, enabled by the rapid ramp-up of our telehealth capabilities. Our expansion into Danbury also has been running at full force since its initiation last year. The subspecialty clinics within the division have continued to grow as well. We have active international centers for several rare disorders including glycogen storage diseases and rare bone disorders of all types, and although most national and international travel was not possible due to the pandemic, care was maintained through emergency license approvals for telehealth in other states, as well as through telephone communications. The division is now ranked 36th in the nation by U.S. News & World Report with 12 faculty currently devoted to patient care and to the education of medical students, residents, and fellows. Several faculty members are recognized year after year in Connecticut and Hartford magazine’s Best Doctors issues. In addition, all of our faculty members have given local, national, and/or international presentations in the educational and research arenas, and most are involved in clinical, translational, and/or bench research. The division is led by Emily Germain-Lee, MD, professor of Pediatrics at the University of Connecticut School of 66
ANNUAL ACADEMIC REPORT 2020
Medicine and adjunct faculty at the Jackson Laboratory. In addition to her clinical and administrative roles as division chief, she is chair of the Senior Research Advisory Council at Connecticut Children’s and chair of the Research Council at the University of Connecticut School of Medicine, enabling her to be actively involved in overseeing the research mission at both institutions. Cem Demirci, MD, the Chase Family Chair of Juvenile Diabetes and assistant professor, continues as director of our very large and successful Diabetes Program, which he has overseen for the past 10 years and expanded greatly. The incorporation this year of the Glycogen Storage Disease & Disorders of Hypoglycemia Program into our division has widened our breadth, with Rebecca Riba-Wolman, MD (assistant professor), as the director. Dr. Riba-Wolman is also the director of the division’s very active fellowship program, which is currently in its twenty-third year. With the additional joint efforts of the fellowship’s associate director, Christine Trapp, MD (assistant professor), and Susan Ratzan, MD, (professor and prior division chief), the fellowship program is thriving. SUMMARY OF SUBSPECIALTIES WITHIN THE DIVISION OF PEDIATRIC ENDOCRINOLOGY AND DIABETES The Division of Pediatric Endocrinology and Diabetes is unique in that it has a wide array of subspecialty clinics within it, including those that are interdisciplinary and multidisciplinary, as well as the Glycogen Storage Disease & Disorders of Hypoglycemia Program. Diabetes Program: A large focus in the division is our Diabetes Program, directed by Dr. Demirci, which cares for approximately 1,200 children and adolescents with diabetes. This year, diabetes clinics were added within our Fairfield County satellites in Danbury and Shelton, both directed by Nordie Bilbao, MD, assistant professor. All of the pediatric endocrinologists in the division are involved in providing care for diabetes of all types, including type 1 and type 2 DM, monogenic diabetes, maturity onset diabetes of the young (MODY), permanent neonatal diabetes, cystic fibrosis-related diabetes, and steroidinduced diabetes. The Division of Endocrinology and Diabetes is accredited by the American Association of Diabetes Educators (AADE) and has a multidisciplinary
team of 11 staff including advanced practice practitioners, registered nurses, registered dietitians, certified pediatric diabetes educators, an administrative assistant, and a pediatric social worker. This year Dr. Demirci was recognized for his incredible dedication and service to the Diabetes Program, both at Connecticut Children’s and throughout the state, by being awarded the Connecticut Lions Club Knight of the Blind Award. Gender Program: This program continues to grow tremendously under the direction of Priya Phulwani, MD, who provides unique care to children and adolescents with gender incongruence, and also offers support to families. Dr. Phulwani has accomplished a great deal this year not only through her clinical care but also through a multitude of presentations given locally and regionally. She is also very active in advocacy for the patients within this program. Clinic for Variations of Sexual Development: This clinic, co-directed by Dr. Phulwani, has evolved into a truly interdisciplinary model with visits involving joint meetings of the parents (or parent) with their child for evaluations by a pediatric urologist, a family support provider, and Dr. Phulwani. The providers build upon each other’s experiences to achieve a common shared goal of providing comprehensive compassionate care to infants, children, adolescents, and their families. The joint patient visits enable better coordination of care and allow for open, clear and consistent communication. By providing ongoing age-appropriate education, the patients are empowered to be involved in the decision-making process. Dr. Phulwani actively participates with members of Medical Genetics, Urology, Plastic Surgery, Adolescent Gynecology, and Psychology. She also advocates extensively for these patients at local, regional, and state levels. Center for Rare Bone Disorders: This center was established at Connecticut Children’s by Dr. GermainLee, and it has built upon more than two decades of her clinical care and translational laboratory research in this area. The center combines both clinical care and basic science research to help patients with rare bone disorders, while at the same time working to discover potential new therapies. Dr. Germain-Lee gives talks and webinars
