A genetic disorder was detected in their children through newborn screening, allowing these mothers to take proactive steps toward treatment and management, transforming fear into hope
by LOUISE BARCIAL
Three courageous mothers took to the stage on October 8, 2024 at the Manila Hotel their personal journeys of navigating the challenges of having children diagnosed with metabolic disorders. With the 22nd Newborn Screening Convention’s theme “STRONG NBS: Strengthening the Resources and Outcomes for the Next Generation,” their stories underscored the critical role that newborn screening played in saving their children’s lives and ensuring that they grow up healthy, normal, and productive citizens of the community.
DISCOVERING THEIR CHILDREN’S DISORDER THROUGH NEWBORN SCREENING
“Nang makatanggap po ako ng tawag mula sa Newborn Screening (Center) na diagnosed ng galactosemia ang anak ko, ang daming tanong na pumasok sa isip ko, ‘Ano ba ang galactosemia? Ano ang mga pwede kong gawin?… Nasaan ang mga espesyalista na pwede kong lapitan?” stated Arlene Abuan, mother of Fherbin who was confirmed to have galactosemia through newborn screening. Galactosemia is a rare genetic condition that prevents babies from processing galactose, a type of sugar found mainly in milk and other dairy products. If left untreated, children may develop cataracts, liver failure, developmental delay, and untimely death.
The fear and anxiety upon hearing the news of their child’s rare disorder is not unique to Arlene. Julian Chelsea Galgana-Agito, a first-time mother with her daughter Athena, was overwhelmed after looking into her daughter’s condition. “The doctors told me that she is positive for GA 1… Nung nakauwi na kami, sinearch ko siya, What is glutaric aciduria type 1 (GA1)” GA1 is a rare condition wherein the body cannot process certain amino acids that causes a harmful build-up of substances in the blood and urine. The list of complications that showed when Chelsea looked up GA1 on the internet dimmed the typically joyous moment of having her first baby.
While Fherbin and Athena were fortunate to receive newborn screening as part of the PhilHealth’s newborn care package routinely done in thousands of health facilities today, extreme luck played at Janelle’s side when her condition, congenital hypothyroidism (CH), was screened in 1996, a time when only 24 hospitals were offering newborn screening. Her mother, Mrs. Divine Barrameda, recalled that, “When I found out that CH can lead to mental and physical retardation, I was both scared and worried. But at the same time, I am thankful that newborn screening was already available, and that I gave birth to one of the first 24 hospitals that offered NBS.”
MANAGING THE DISORDER: CHALLENGES AND TRIUMPHS
Newborn screening is crucial in detecting genetic disorders in newborns so that they could receive appropriate care to avoid mental retardation and early death. However, all the efforts in catching the condition early could go to waste if parents or caregivers fail to comply with the treatment and dietary plan that the doctors prescribe. “Mother knows best. But when it comes to health, I might have to rephrase it to ‘Your doctor knows best,” emphasized Divine as she discussed the treatment, challenges, and resolutions in managing Janelle’s condition.
The successful management of metabolic disorders relies heavily on the patient’s dietary management and preventing triggers that could lead the patient into a crisis. Arlene took this to heart as she continually educated Fherbin on his condition, dietary restrictions, and possible complications. She recognized that community effort is needed in raising a child that requires special management, so she informed Fherbin’s teachers, classmates, and friends about his condition. At the young age of 9, Fherbin displays understanding of his condition as he proactively reads into ingredients of food items while accompanying his mom for grocery shopping.
As the primary caregivers of children with metabolic disorders, these mothers are also the first to witness the milestones that their children achieved in their journey. Chelsea recalls the excitement and happiness she felt when she saw Athena being able to crawl, and eventually walk at 1.5 years old, something that she thought Athena would not be able to do because of GA1.
“My daughter excelled in her studies. She graduated salutatorian in elementary… She’s a first-take-passer of the civil engineering licensure exam. She also actively participated in various extra-curricular activities in school and even in her work, bringing in lots of awards and recognition,” shared Divine with hundreds of newborn screening practitioners in the convention.
Similarly, Fherbin displayed exemplary skills as his mother Arlene shared his outstanding performance in school, ”Yung makita ko yung anak ko na masigla, marunong bumasa at sumulat, okay na posa akin ‘yon… Pero higit pa po yung binigay ng aking anak. Kasi simula po nung nursery hanggang Grade 3, siya po ay consistent honor student at siya po ay nanalo sa quiz bee competition in Science.”
A CALL TO ACTION
The mothers’ stories were punctuated with themes of resilience, education, and the profound support they received from their communities and healthcare providers. Divine urged her fellow parents, “magtiwala lang po tayo sa ating doktor at sundin ang kaniyang gabay hanggang dulo. Wag po natin palampasin ang pagkakataon upang mabigyan ng normal at magandang buhay ang ating anak. This is the greatest gift that we can offer to our child.”
Arlene echoed this statement, stating “Nagpapasalamat po ako sa newborn screening dahil naging kasama ko sila sa pag-alaga, paggabay, at pagtulong sa pagpapalaki sa aking anak… Dati marami akong tanong pero ngayon ang tanong ko, ‘Paano kung walang newbom screening, paano na kaya yung aking anak?”’
Finally, Chelsea reminded parents to find beauty in small victories. She added “Lumalaban siya (Athena) para sa akin, so wala akong nakikitang dahilan para hindi lumaban para sa kanya.” These mothers deserve the strong cheers and applause, respect for their strength and determination from the health practitioners. Their stories resonate beyond personal experiences; they illuminate a path for future generations, emphasizing that with newborn screening, education, and community support, children with congenital disorders cannot only survive but thrive.
Through the years, the coverage of the Philippine Newborn Screening Program has continually increased, reaching 96.9% of newborns screened in 2023. However, with limited funding and logistic constraints, the long-term care of patients remains a challenge to the NBS program which supports medication, food supplements, and consultation with specialists.
The collective call to action at the convention was clear: to strengthen newborn screening initiatives, support families, and foster a community where every child has the opportunity to reach his or her full potential. Together, these mothers have proven that hope, resilience, and love can indeed shape brighter futures for their children and inspire others facing similar challenges.
