Wednesday, May 23, 2012

G6PD: Newborn Screening

A baby undergoes Newborn Screening (NBS) within three days of his birth. NBS will be able to tell if a baby was born with any metabolic disorders that will affect his body's normal processes and functions. Psalm was tested on his 3rd day. He was pricked at the heel with three drops of his blood taken for testing.
the doctor/pedia said we can't take pictures while the test is being
administered but mom managed to snatched two pictures

And then the results, while we actually forgot about it already, we received a mail stating Psalm being positive in one of the disorders NBS is looking for. Yes, he's G6PD deficient.

  • G6PD Deficiency is in fact the most common genetic enzyme deficiency affecting an estimated 600 million people world wide. While this is the mildest disorder that is covered in NBS, it is the most common: One out of 55 babies may be affected.

It's that common but I still wish this list did not include Psalm. How common can that be? Out of the 55 babies, he’s the sole 1 who has it.  While it's a relief to know that G6PD isn't bad as I initially thought it was and that Psalm’s doctor said it was not something to be that concerned about I'd think still what of all the things I did while being pregnant gave you G6PD. I thought it was something I ate or any lack on my part that put Psalm in this state.

And yes we went to reconfirm the results. It was disheartening to see how your baby's little feet would be pricked for another nobody knows how much ounce of blood to verify if he indeed has the deficiency. I'm sorry son, I didn't look when they took you in. But I heard your cry and boy you're really angry that time. We prayed so hard for the results to turn negative but no, my baby still has it. 

One day I didn't know that G6PD exists, the next day I became a dictionary about it. I was scared and angry at myself thinking that..

      ...it is an inherited disorder and cannot be contracted in any other way.

You see, G6PD is X-linked. Meaning he got it from me, him being male and so his female parent is the one who passed it on to him and that’s me. But I was corrected that  it’s not because I did something while he’s at my womb. It’s possible I have it but that I’m immune with the triggers, or I may just be a carrier with the deficiency dormant inside me. With this, I would want myself be tested as well for curiosity’s sake so I can weigh if I’m indeed affected too especially that the G6PD unsafe list they have has a bunch of what we eat most. I'd like to be assessed myself so I can weigh how much of an issue this deficiency is.

I researched so well and dug deep in the hope of finding what can cure this condition. But no…
  • There is no known cure nor do you grow out of it. It is a life long condition. The only thing you can do is avoid substances which cause oxidative stress and that use G6PD. Carbohydrates require G6PD for the body to change them into energy for example. Legumes (especially the Fava Bean) contain the proteins vicine, convicine and isouramil which cause hemolysis.
  • Symptoms include hemolytic anemia caused by ingestion or exposure to certain triggers. Anemia in turn causes jaundice, pale skin or finger nails, lethargy, exhaustion, shortness of breath and fever, among others. These symptoms usually go away on their own when exposure to the trigger is removed.
I remember, Psalm has jaundice when he was still a newborn and it stayed till he’s three weeks I think. Sunshine was his bestfriend then.

Any benefits whatsoever? One benefit of having G6PD deficiency is that it confers a resistance to malaria.

His wonderful Pedia doc said it's no big issue as only a handful of items are a no no while some can be tolerated to some little extent.

But oh no, the list include foods that RIchard and I consider staple on our daily consumption...talk about tofu (me favorite, huhu), taho, soybeans, beans, and anything with soya. Richard drinks Soya like water! Good thing yakult is not include, phew!

But anyhow, thank God for the internet as I found out Psalm can still live a normal life despite of G6PD. Just like his Daddy who gets rashes from eating shrimps or from swimming on pools with chlorine, we may just treat this as some kind of an allergy perhaps. As early as now, I need to plan changing our diet as we need to limit our “our staple foods” intake with our baby ready to eat solid foods anytime around. Need not worry coz it looks like we won’t have problems introducing fruits and solids to Psalm.

Clockwise from left: Psalm tasting Mango (he didn't eat any, just tasted the fruit juice);
Psalm eating carrots from his dropper; and Psalm with his cookie.









References:
http://www.babycenter.com.ph/baby/newborn/newbornscreening/
http://www.g6pd.org/en/Home.aspx
http://kidshealth.org/parent/general/aches/g6pd.html

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