Newborn Screening Saved My Baby

What is Newborn Screening?

It is a procedure where blood is extracted from a newborn baby to test for metabolic disorders that will affect his body's normal processes and functions. It is ideally done within 3 days of birth. Below is a table of Disorders Tested and the effect if "Screened and Managed" versus "Not screened".

Disorder Screened	Effect if NOT SCREENED	Effect if SCREENED and managed
CH (Congenital Hypothyroidism)	Severe Mental Retardation	Normal
CAH (Congenital Adrenal Hyperplasia)	Death	Alive and normal
GAL (Galactosemia)	Death or Cataracts	Alive and normal
PKU (Phenylketonuria)	Severe Mental Retardation	Normal
G6PD Deficiency	Severe Anemia, Kernicterus	Normal
Maple Syrup Urine Disorder*	Death	Alive and normal

Source: Newborn Screening Philippines

My Story

     It was two weeks after I gave birth to my son when I received a call from the Newborn Screening Center. They told me that our Newborn Screen test showed a positive result and that they need to conduct a repeat test to be sure. They didn't tell me what disorder my son had so hundreds of scenarios ran through my mind.I was really scared that we might lose our baby or he might not grow normal. We immediately went to the hospital for a repeat exam and waited for the result. The repeat test showed that he is positive of Hypothyroidism. 

     I was confused because I was diagnosed as Hypothyroid during my pregnancy but I was religiously taking my meds and my blood test showed that my TSH,FT4 are within normal range. I had Hyperthyroidism even before I got pregnant but became Hypothyroid later on.      

    Anyway they referred our son to a specialist for further check up. We consulted a Pediatric Endocrinologist and she requested another blood test for my son. The test showed that his TSH is way high above the normal range.Physically my son didn't manifest any signs of Hypothyroidism like jaundice and enlarged tongue. The doctor told us that our son might be suffering from Transitional Hypothyroidism meaning this might be temporary. His hormones might have been affected by my medication.We have to come back after a month and have another test. After a month and several more test later which included a Thyroid scan and Bone ageing Analysis my son was diagnosed as having Congenital Hypothyroidism. We started his medication which is same as mine, Levothyroxine tablet which he had to take daily for the rest of his life.

    Fast forward to present, my son at 1 year and 11 months (almost 2 years old) is healthy and is developing at a normal rate. He can talk and string words together though he can't pronounce S and R yet. He can sing "Happy birthday to you" and prefers it over the Alphabet Song. He can even dance Gangnam style. He loves cars,balls and animals.He is a happy baby but is now starting to show tantrums.

    Looking back I am very glad that there is such a thing as NBS. I shudder at the thought as to what might have happened to my son if he wasn't diagnosed and treated at an early age. Thus I highly recommend to all parents to have their babies screened esp. those who gave birth to Lying ins and at home since most private hospitals automatically conducts NBS. 

More info at Newborn Screening Philippines