This year’s NBS convention with the theme, “Celebrating 20 Years of Newborn Screening towards Overall Screening and Management”, was held on October 25 and 26 at the Philippine International Convention Center (PICC), Pasay City. The event annually organized by the Newborn Screening Society of the Philippines Inc. (NSSPI) and Newborn Screening Reference Center (NSRC)-National Institute of Health (NIH), University of the Philippines – Manila aims to update stakeholders through talks by invited local and international experts and unite newborn screening advocates.
Day One (October 25)
The President of NSSPI, Dr. Ephraim Neal Orteza cordially welcomed the delegates. Followed by special messages delivered by Dr. Eva Maria Cutiongco de la Paz, Vice-Chancellor for Research of UP Manila and Executive Director of National Institutes of Health and Department of Social Welfare and Development Undersecretary Florita Villar, on behalf of Secretary Judy Taguiwalo. Usec. Villar emphasized health as one of the rights of the children that needs to be protected. Dr. Lyndon Lee Suy, Director of Disease Prevention and Control Bureau of the Department of Health (DOH), previewed DOH’s comprehensive range of programs for newborns through his keynote address on behalf on Department of Health Secretary Dr. Paulyn Jean Rosell-Ubial.
The first plenary session was led by Dr. Carmencita Padilla, Chancellor of UP Manila and pillar of the implementation of NBS in the country. She vividly discussed the challenges and successes in the past 20 years and presented a preview into the next 20 years of national program. Dr. Padilla also highlighted the milestones of NBS implementation including the developments in neighboring Asian countries.
“I can proudly say that this is a successful program because of volunteerism, whether resulting from professional feeling of national responsibility or a simple desire to do good” said Dr. Padilla as she acknowledged the contribution of health workers and advocates. She also encouraged everyone to advocate for the promotion of Expanded Newborn Screening (ENBS). The launch of ENBS last December 2014 has allowed the testing of 22 additional disorders aside from the basic panel of six disorders namely Congenital Hypothyroidism (CH), Congenital Adrenal Hyperplasia (CAH), Phenylketonuria (PKU), G6PD Deficiency (G6PDD), Galactosemia, and Maple Syrup Urine Disease (MSUD).
“I can proudly say that this is a successful program because of volunteerism, whether resulting from professional feeling of national responsibility or a simple desire to do good” said Dr. Padilla as she acknowledged the contribution of health workers and advocates. She also encouraged everyone to advocate for the promotion of Expanded Newborn Screening (ENBS). The launch of ENBS last December 2014 has allowed the testing of 22 additional disorders aside from the basic panel of six disorders namely Congenital Hypothyroidism (CH), Congenital Adrenal Hyperplasia (CAH), Phenylketonuria (PKU), G6PD Deficiency (G6PDD), Galactosemia, and Maple Syrup Urine Disease (MSUD).
Dr. Maria Melanie Liberty Alcausin, Director of Newborn Screening Reference Center brought new hopes in implementing the program as she discussed plans for new newborn screening centers (NSCs) and an update on confirmatory centers. She further gave details on the coverage of Expanded Newborn Screening program (ENBS). On the other hand, Dr. Reynaldo de Castro Jr. gave updates on thalessemias, a group of inherited blood disorders. He believes that screening can lead to the prevention of these congenital hemolytic disorders.
The last plenary session for the first day of the conference centered on the first two years of NBS Continuity Clinics (NSCC). NSCCs are essential in the long-term management and follow-up of patients with genetic disorders diagnosed through NBS.
Dr. Angelica Tomas, the Head of Continuity Clinics presented cases and statistics regarding recalled confirmed cases in the continuity clinics while Region 6 NBS Program Manager Dr. Renilyn Reyes shared approaches in advancing quality services in Western Visayas through NSCC initiatives. Dr. Reyes elaborated programs of the continuity clinic such as collaboration and partnership with NBS stakeholders and outreach as part of their critical strategies and methods to provide quality service. Moreover, Dr. Nancy Honor, Follow-up head of Continuity Clinic in Region 8 shared the best practices on recognizing the needs of the patients in their region. Challenges faced by continuity clinics was discussed by Dr. Genelynne J. Beley, Follow-up head of Region 11 Continuity Clinic. Dr. Beley pointed out several factors such as difficulty of compliance of required tests in some cases, transportation, and communication limiting time of recall of affected patients.
Dr. Angelica Tomas, the Head of Continuity Clinics presented cases and statistics regarding recalled confirmed cases in the continuity clinics while Region 6 NBS Program Manager Dr. Renilyn Reyes shared approaches in advancing quality services in Western Visayas through NSCC initiatives. Dr. Reyes elaborated programs of the continuity clinic such as collaboration and partnership with NBS stakeholders and outreach as part of their critical strategies and methods to provide quality service. Moreover, Dr. Nancy Honor, Follow-up head of Continuity Clinic in Region 8 shared the best practices on recognizing the needs of the patients in their region. Challenges faced by continuity clinics was discussed by Dr. Genelynne J. Beley, Follow-up head of Region 11 Continuity Clinic. Dr. Beley pointed out several factors such as difficulty of compliance of required tests in some cases, transportation, and communication limiting time of recall of affected patients.
Day Two (October 26)
The second day of the convention started with a talk on the importance of its effectiveness of proper and timely collection and transport of the NBS specimens for proper diagnosis and treatment. NSC Mindanao Unit Head Dr. Conchita Abarquez discussed the factors which hinder effective collection, and ways to help the coordinators to manage timeliness of the NBS findings. Afterwards, NSC Visayas Unit Head Dr. J Edgar Winston Posecion presented maternal conditions and how it will be managed in order to minimize false positive results in ENBS.
The next plenary session sought to talk about cases and management for different congenital disorders detected through the NBS program. Dr. Maria Beatriz Gepte discussed about the case scenarios of encountered patients with G6PD deficiency while Dr Meow-Keong Thong, a Malaysian clinical geneticist shared his expertise in managing patients with fatty acid oxidation disorders (FAOD) which are rarely reported in the Asian population. He also conveyed a comparative overview of the programs in Philippine and Malaysian setting. The third speaker, Dr. Mary Anne Chiong, the Director of the Institute of Human Genetics-NIH, UP Manila, cited some remarkable cases of Organic Acid Disorders detected through ENBS. Dr. Sylvia Estrada concluded the session as she discussed disorders of sex differentiation and approaches on recognizing ambiguous genitalia. She pointed that Congenital Adrenal Hyperplasia (CAH) is the most common cause of ambiguous genitalia.
Other screening procedures such as newborn hearing screening and pulse oximetry were also discussed in this year’s convention. Newborn Hearing Screening Reference Center (NHSRC) director Dr. Charlotte Chiong gave an overview of newborn hearing screening, RA 9709 or the Universal Newborn Hearing Screening and Intervention Act of 2009, and the services offered by NHSRC. Hearing screening aims to provide early diagnosis and immediate intervention services for newborns with congenital hearing loss. Like newborn bloodspot screening, hearing screening is included in PhilHealth’s Newborn Care Package.
On the other hand, screening congenital heart disease through Pulse Oximetry testing among infants was presented by Dr. Jose Jonas del Rosario, an interventional pediatric cardiologist and Ms. Annamarie Saarinen, founder and chairperson of the US-based coalition, 1in100. Dr. del Rosario emphasized that newborn with critical congenital heart disease are in greater risk of disability and death if not diagnosed soon after birth. On the other hand, Ms. Saarinen shared her experiences as a mother of a child with CCHD. She also presented the use of a prototype pulse oximeter attachment with free mobile phone application in China.
 |
| #NBSat20 Book launch. A preview of the NBS 20th anniversary book's cover. |
The parallel sessions were followed by a plenary talk on rare disorders which touched the hearts of every delegate. Philippine Society of Orphan Disorders (PSOD) President Mrs. Cynthia Madaraog shared her experience as a mom of rare disorder patient, as well as some stories of patients with orphan disorders. Orphan disorders are rare genetic conditions which has a prevalence of 1 in 20,000 or less. Early this year, the Rare Diseases Act of the Philippines (RA 10747) was enacted into law. She encouraged everyone in attendance not only to advocate for newborn screening but also for rare disorders.
As closing remarks, Dr. Padilla led the “NBS at 20” book launch. The book contains the turning points of the NBS implementation in the Philippines, as well as different stories that would inspire every individual to strengthen their NBS advocacy.
Four children saved through newborn screening namely Daniella (CH), Danica (CAH), Dave (CAH) and Janelle (CAH) were the final special guests in this year’s convention. Now an engineering student, Janelle is the seven year old little girl standing alongside the 14-year old JR in the well-circulated NBS poster. Janelle and the rest of the saved children are the living testimonies of the program’s success and the continuous effort of their families, NBS coordinators and advocates. Their stories together with other patients were included in an audio-visual presentation that was also launched during the event. The presence of the saved children further strengthened the participants’ commitment to hope for more progressive years and the further improvement and success of the Philippine NBS program.
Through our collective effort, we can save more babies from mental retardation, and death through newborn screening. As Dr. Padilla mentioned, “we have a pressing responsibility to protect the health and well-being of the next generation of Filipino newborns, their families, and our society in general. We must guard this responsibility carefully and never underestimate its importance!”#
Through our collective effort, we can save more babies from mental retardation, and death through newborn screening. As Dr. Padilla mentioned, “we have a pressing responsibility to protect the health and well-being of the next generation of Filipino newborns, their families, and our society in general. We must guard this responsibility carefully and never underestimate its importance!”#
 |
| VYLH-Philippines volunteers together with the children saved by newborn screening (Photo: Dr. Conchita Abarquez/NSC Mindanao) |
Written by Zyra Nikka Indap
_____________________
_____________________
Zyra Nikka Indap is a Bachelor of Secondary Education (BSEd) major in Social Studies graduate of Polytechnic University of the Philippines (PUP) - Manila. She is also a former Chief Magistrate of the PUP Social Studies Guild. Zyra is now a registered professional teacher after passing the September 2016 Licensure Examinations for Teachers (LET).
Editor RPascual
