"The pandemic has disrupted our usual protocols and systems, but the poorest and most vulnerable feel the inequalities more so than others. These are mothers who have no access to quality healthcare; babies who are born in less desirable environments:' said Vice-President Maria Leonor Gerona Robredo in her keynote address during the opening of the first ever virtual National Newborn Screening Convention on October 14.
Robredo cited data from UNICEF stating that an estimated 116 million babies will be born under the shadow of the pandemic and this should not stop the new families from getting support and access to primary care.
She then challenged the participants to keep protocols and systems in place to protect not only mothers and their babies but also frontliners who are their primary caregivers; to continue expanding services that can cover indigent families; and to ensure that patients and their families are properly informed and supported when their test comes back positive. She believes that the tasks are daunting and encouraged everyone to continue to find ways to extend service and build together a better future for the next generation.
Held on October 14-15, 2020, the 18th National Newborn Screening Convention attracted over 6,000 registrants composed of health professionals, program implementers, partners, and advocates of the newborn screening program. 1his year's 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. The two-day event was organized by the Newborn Screening Society of the Philippines (NSSPI) and the University of the Philippines (UP) Manila through the Newborn Screening Reference Center (NSRC).
This was the first time that the convention was held online since it started in 2001. Notwithstanding the COVID pandemic, NSSPI still aimed to provide education, technical updates, and share best practices on newborn screening operations. 1his year's convention was also in honor of the life and strong leadership of NSSPI President Dr. Ephraim Neal Orteza, who passed away last April 8 due to COVID-19. Orteza had served as president from 2015 until his death.
Overall Program Chair and NSRC Director Dr. Noel Juban welcomed the participants and presented the status of the program after the implementation of expansion in the number of disorders being screened from 6 to 29 [expanded newborn screening], its continuing challenges, and the efforts to address them. "With the present national and global situation related to the Covid-19 pandemic, we, [the] 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, one of the conveners of the newborn screening program in the Philippines, presented the strategic framework for the implementation of the Expanded Newborn Screening (ENBS) in the country, the strategies to be undertaken to attain the targets set in the framework, and the significant roles of the different program stakeholders.
Meanwhile, the plenary sessions featured the following topics: endocrinology, metabolic, hematology, genetic counseling, nutrition, and the resilience and solidarity of the various levels of newborn screening implementers as they responded to the challenges brought about by the pandemic.
In the plenary session on endocrinology, Dr. Lorna Abad, Chair of the UP-Philippine General Hospital Department of Pediatrics, presented the basic facts on Congenital Hypothyroidism (CH). She also differentiated between transient and permanent congenital hypothyroidism. Dr. Sylvia Estrada, Chair of the Newborn Screening Expert Committee on Endocrine Disorders, shared the prevalence and importance of early detection and treatment of Congenital Adrenal Hyperplasia (CAH). She also shared the hindrances in CAH care and current efforts to lessen these such as holding regional newborn screening clinics in collaboration with the Philippine Society of Pediatric Metabolism and Endocrinology (PSPME).
With the metabolic medicine in focus, two clinical geneticists, Dr. Leniza de Castro-Hamoy and Dr. Mary Ann Abacan, presented Tyrosinemia Type I and Glutaric aciduria Type I, respectively. Both are autosomal recessive disorders of amino acid metabolism which result in primarily hepatic, but also renal, skeletal, and neurologic manifestations. 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 make sure that treatment and medications become more accessible to the patients.
Day 1 ended with a plenary session focusing on Hemoglobinopathies. Drs. Maria Beatriz Gepte and Reynaldo de Castro, both hematologists from the Philippine Children's Medical Center (PCMC), correspondingly presented the prevalence in areas endemic to malaria of Alpha Thalassemia where the more severe forms are present, and the challenges of blood transfusion in Beta Thalassemia. Gepte highlighted the importance of physician, community education, and genetic counseling to prevent long term complications, development of more severe disease, and further perpetuation of alpha thalassemia in the population. De Castro on the other hand, emphasized significant health concerns as well as the economic impact of beta thalassemia.
Day 2 of the convention started with a plenary session that focused on the importance of evaluating and understanding a family's risk of an inherited medical condition through genetic counseling. Genetic counselors Dr. Ma-Am Joy Tumulak, Angela Pascua, and Peter James Abad emphasized 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 the patients. She mentioned the role of genetic counselors in providing a unique opportunity for the family to receive continuous support, information, and continuity of care. Pascua cited that genetic counseling will help replace misconceptions about the causes of genetic diseases and promote psychological wellbeing and adaptation to the genetic condition or risk, specifically in hemoglobinopathies. Abad, on the other hand, focused on the crucial phase of disclosing the bad news and how primary care providers can best approach the relaying of information to families in a sensitive, respectful, and empathic manner.
The plenary session on nutrition featured practitioners of metabolic dietetics and developmental pediatrics. Aster Lynn Sur, dietician and metabolic nurse, discussed the history of metabolic dietetics and the critical role of dietitians in the management of patients with inborn error of metabolism (IEM). She mentioned the challenges faced by metabolic dietetics, including professional standards, development of outcome-based treatment guidelines and protocols, research and development, and local and international collaboration, among others. Jeanne Ruth Basas, metabolic dietician, tackled the challenge of IEM dietary management during the time of the pandemic. She specified difficulties in securing adherence to patients' nutritional management, transition from face to face consultation to telemedicine, and procurement of food and medicines for patients. Dr. Kaye Napalinga, developmental and behavioral pediatrician, discussed the techniques in improving the feeding experience of the child. She emphasized 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 presented how they provided the newborn screening services amidst the challenges brought about by COVID-19. They shared what drove them to continue implementing newborn screening and how they responded to the challenge from collection to transmission, to testing and management of positive patients. It also featured how the DOH Center for Health Development responded to lessen the operational gap in the provision of newborn screening services in the region. Dr. Conchita Abarquez, Head of lhe Newborn Screening Center-Mindanao, Dr. Ma. Rita Anne Salve Boligao, Follow-up Head of the Newborn Screening (NBS) Continuity Clinic in Vicente Sotto Memorial Medical Center (Cebu), Dr. Monrey Isaiah Mancilla, Newborn Screening Program Manager of Bicol Center for Health Development, DOH, and Dr. Maria Alejandra Narcelles, NBS Coordinator of Pira General Hospital, Cabugao, Ilocos Sur, shared how the significant disruption of the operations of newborn screening required each of them lo adapt lo adversity and maintain resiliency during the pandemic.
The National Newborn Screening Convention, held every year in October, convenes participants from different health professions to learn from local and international experts, program consultants, and program implementers. The theme constantly follows the theme of the Newborn Screening Awareness Week Celebration every first week of October in accordance with Presidential Proclamation No. 540 issued by then President Gloria Macapagal on January 20, 2004.
First published on Philippine Star, October 18, 2020
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