The 18th convention held last October 14, 2020, organized by the Newborn Screening Society of the Philippines (NSSPI) and UP Manila Newborn Screening Reference Center (NSRC) attracted over 6,000 health professionals, program implementers, partners, and advocates of newborn screening. The theme, “Navigating the Path Towards a Successful Expanded Newborn Screening Amidst Challenges,” was inspired by the exemplary response of the program stakeholders to the COVID-19 pandemic.
Through this virtual event, the NSSPI still aimed to provide education, technical updates, and best practices on newborn screening operations. This year’s convention also honored the life and strong leadership of NSSPI President Dr. Ephraim Neal Orteza, who passed away last April 8 due to COVID-19.
Overall Program Chair and NSRC Director Noel Juban presented the status of the expanded program that now screens 29 disorders and the continuing challenges and efforts to address them. “With the COVID-19 pandemic, we, newborn screening advocates, have continued giving our services towards our goal of saving every Filipino child from mental retardation and death,” he said.
UP Manila Chancellor Dr. Carmencita Padilla, a convener of the newborn screening program in the Philippines, presented the framework for the Expanded Newborn Screening (ENBS) in the country, the strategies to be undertaken to attain the targets, and the roles of the different stakeholders.
In the session on endocrinology, Dr. Lorna Abad, Chair of the PGH Department of Pediatrics, tackled the basic facts on Congenital Hypothyroidism, differentiated transient from permanent congenital hypothyroidism, and enumerated the diagnostics used.
Dr. Sylvia Estrada, Chair of the Newborn Screening Expert and Advisory Committee for Endocrine Disorders, shared the prevalence and importance of early detection and treatment of Congenital Adrenal Hyperplasia (CAH), the hindrances in CAH care, and current reduction efforts such as holding regional newborn screening clinics in collaboration with the Philippine Society of Pediatric Metabolism and Endocrinology.
Geneticists, Dr. Leniza de Castro-Hamoy and Dr. Mary Ann Abacan, presented Tyrosinemia Type 1 and Glutaric aciduria Type 1, respectively. They also talked about the importance of early detection, proper management to prevent life-long complications, and the need to continue advocating for patients with rare diseases to ensure that they get more access to treatment and medications.
For the plenary session on Hemoglobinopathies, Drs. Maria Beatriz Gepte and Reynaldo de Castro, hematologists from the Philippine Children’s Medical Center, presented the prevalence of Alpha Thalassemia in areas endemic to malaria where the more severe forms occur and the challenges of blood transfusion in Beta Thalassemia.
Day 2’s plenary session on the importance of evaluating and understanding a family’s risk of an inherited medical condition through genetic counseling had Dr. Ma-am Joy Tumulak, Angela Pascua, and Peter James Abad emphasize the value of information and support to families affected by or at risk of a genetic disorder. Tumulak stressed the importance of a multidisciplinary team of doctors, nurses, social workers, therapists, and genetic counselors in the holistic management of patients. Pascua cited that genetic counseling will help replace misconceptions about the causes of genetic diseases and promote psychological well-being and adaptation to the genetic condition or risk. Abad tackled the crucial aspect of disclosing the bad news and how primary care providers can best approach this task to families in a respectful and empathic manner.
The plenary session on nutrition featured Aster Lyn Sur, a metabolic nurse, on the history of metabolic dietetics and the critical role of dietitians in managing patients with inborn error of metabolism (IEM). She mentioned the challenges, including professional standards, development of outcome-based treatment guidelines and protocols, research and development, and local and international collaboration. Jeanne Ruth Basas, a genetics dietitian, added the challenge of IEM dietary management during the time of the pandemic and the difficulties in adhering to patients’ nutritional management, transition from face to face consultation to telemedicine, and procurement of food and medicines for patients. Developmental and behavioral pediatrician Dr. Kaye Napalinga, explained that feeding infants and young children not only ensures physical growth but shapes their emotional and social development.
In the last plenary session, four program implementers, Dr. Conchita Abarquez, Head of Newborn Screening Center-Mindanao; Dr. Ma. Rita Anne Salve Boligao, Follow-Up Head of Newborn Screening Continuity Clinic in Vicente Sotto Memorial Medical Center; Dr. Monrey Isaiah Mancilla, Newborn Screening Program Manager in Bicol Center for Health Development; and Dr. Maria Alejandra Narcelles, NBS Coordinator in Pira General Hospital, Cabugao, Ilocos Sur; shared how they responded to the challenge of continuing to implement newborn screening amid the pandemic. From collection to transmission, to testing and management of positive patients; they recounted how the DOH Center for Health Development lessened the operational gap in providing newborn screening services in the region.
Vina Mendoza | Published in Healthscape Special COVID-19 Issue No. 17
