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Wednesday, November 7, 2012

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
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
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. 

19 comments:

  1. I'm happy to know that Kulay seems not affected at all. It is always the best choice to follow our doctor's advice especially when it comes to our baby's health.

    Happy for you Mommy Raine :)

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  2. Congrats to you Mommy, i know your son will become a great person with the love and care that he receives from his parents :)

    I believed it is a mandate that all Newborn baby should undergo New Born Screening that is to also help both the baby and the parents if the result is something unfavorable.

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  3. my son went through NBS too. i agree with your recommendation. prevention is indeed better than cure. so glad to know your son is well and a happy baby.

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  4. Your son is a living proof that Newborn Screening do really saves a baby's life. As a parent we will do anything for our child, and NBS is the first important thing that we should do.

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  5. I'm not yet a mom but I am so hoping to be one soon. Nonetheless, I agree with your recommendation. Thank God your baby is growing healthy.
    Visiting from FBF God is always with us.

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  6. Thank God your baby is now healthy and bubbly. NBS indeed is one important test for infants. Good thing the your son's ailment was detected early on and was then treated.

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  7. that's a good point, mothers should know about those tests...it is very important for your babies health

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  8. It pays to listen to your OB-Gyn. They certainly know what's best for the unborn. I'm glad everything turned out well for your little one.

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  9. Medical Science has from time-to-time save people from life-wrecking illnesses. Happy that your child is doing fine.

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  10. I also have a niece who tested positive for a part of the NBS. Thank God there is now such a thing as NBS - will help many kids develop beautifully.

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  11. yup everyone should take note of this.. this will greatly help the baby and the parents as always.. prevention will always be the fight against illnesses and sickness... prevention is cheaper than curing.. thanks for the share and I am glad your baby is now healthy and doing fine..

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  12. it's good to know that NBS helped your baby .. and i guess all babies should have NBS so that they will know 1st hand if their babies have ailments already at the time of their birth.

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  13. my little girl went to NBS also and thanks God we have no problem about it. but good to hear that your son is doing great. i had hyperthyroid back in 2005 and now just last month, it went into hypothyroid that left me taking a life-long medicine each morning. :)

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  14. New medical technologies like this one is a big help to detect, treat or prevent future illnesses.. I hope it will become a requirement even in public hospitals and for free.

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  15. this is very enlightening as some do not appreciate NBS the way they should. it's also good to know you're baby is doing well sis =)

    anna

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  16. This is a good information for those who are mom-to-be...

    I'm glad po that your son is very healthy! ^_^

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  17. i love the information you shared, i might be needing this soon if things work great...

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  18. oh my gush that was probably a stressful thing for u to know that something is wrong with your baby. good to know that there procedures to determine this stuff and able to fight it. good to know too that your baby is fine sis...thanks for sharing your story

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  19. Hello Good day and God bless! I was researching for my assigned article when I came upon your post. Thanks for sharing your story. Your blog is very inspiring. Keep it up! I am currently in the process of writing an article about Newborn Screening for the University of the Philippines Manila bi-annual magazine, and looking for testimonials from parents on how NBS helped their babies. Can I have you as one of the testimonials? It would be very helpful to have your views, a hands-on dedicated mother, in my article. Thank you very much! I hope to 'email' interview you. I am Charmaine Lingdas from Information, Publication, and Public Affairs Office University of the Philippines Manila, my email address is charmieabing@yahoo.com.ph. We are aiming to have the bi-annual magazine printed by the end of June, though I have to submit the article by May 9. Thank you again. Hoping for your reply.

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