Coping with G6PD Deficiency

Back in 2008, Joey’s nephew got a positive result for G6PD Deficiency after he had his newborn screening test. I was still studying then for my Medical Technology course and I already had a brief background about the condition. I was aware that this is common among Filipinos and that we had the “mild” type (Class III) according to World Health Organization’s Classification, based on the magnitude of the enzyme deficiency and the severity of hemolysis. I assured their family that it wasn’t something to worry about just as what the little boy’s Pediatrician had said to them.

Since I knew how this was passed on to the baby boy, which is hereditary, by the way, I knew that if I were to marry Joey and we had our own child, he or she might also be at risk of having the same condition as well. So, I dedicated some time to research more about this through reading books and several studies made here and abroad to further my knowledge in this area.

Years passed and December of 2012, I gave birth to my little girl, Matilda. And just after days of enjoying her presence, the hospital called and asked us to pick up the result of her newborn screening test, immediately. I knew right then and there that Matilda must have had a positive result for G6PD Deficiency and true enough, I was right.

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What is Newborn Screening?

Newborn Screening (NBS) is a simple procedure to find out if your baby has a congenital metabolic disorder that may lead to mental retardation or even death if left untreated. Most babies with metabolic disorders look “normal” at birth. By doing NBS, metabolic disorders may be detected even before clinical signs and symptoms are present. And as a result of this, treatment can be given early to prevent consequences of untreated conditions. This is ideally done immediately, 24 hours after birth. This costs only 550 pesos and the results usually come out within 2-3 weeks, depending on the place it was made.

What Disorders are included in the Screening?

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 Disease Death Alive and normal

 

What is G6PD Deficiency?

Glucose-6-phosphate dehydrogenase deficiency, or G6PD deficiency for short, is the most common “inborn metabolic disorder” in the world. This means that from the time a baby is born, thre is already something wrong with how his body makes and breaks important substances. According to statistics, about 400 million people have G6PD deficiency, and it is most common in Africa, Southeast Asia and the Middle East.

Babies with G6PD deficiency have very little or no enzyme called Glucose-6-Phosphate Dehydrogenase (G6PD). An enzyme is a kind of protein that speeds up chemical reactions in the body. The enzyme G6PD is especially important to red blood cells. If this enzyme is lacking or missing, red blood cells are easily destroyed.

How is it acquired?

There are 2 kinds of sex chromosomes, X and Y. All baby girls have two X chromosomes. All baby boys have one X and one Y. The gene that gives instructions on how G6PD is made is found in the X chromosome only, thus G6PD deficiency is described as X-linked.

If a baby girl gets one defective G6PD gene from either of her parents, she will not have G6PD deficiency because she has another G6PD gene that can do the work (remember: a baby girl has two X chromosomes, thus two G6PD genes). But if she gets two defective G6PD genes from both her parents, she will have G6PD deficiency. On the other hand, a baby boy whose G6PD gene is defective will surely get G6PD deficiency because the Y chromosome has no G6PD gene.

A defective G6PD gene will give wrong instructions on how to make the enzyme G6PD. As a result, too little or none of it is made.

NOTE: Kindly click on this link to view the inheritance chart – http://g6pddeficiency.org/wp/g6pd-deficiency-home/g6pd-deficiency-inheritance-chart/#.U5kwKvmSw1I

What is the potential harm of having G6PD Deficiency?

If a baby does not have enough G6PD, his red blood cells lack protection from the harmful effects of oxidative substances. When these substances accumulate in the body in hight concentrations, it may lead to hemolysis – a process wherein red blood cells are destroyed which usually causes hemolytic anemia.

Destroyed red blood cells are brought to the liver to be broken down to smaller pieces for disposal. One of the end products of this process is bilirubin, a yellowish substance that accumulates in different parts of the body when too much of it is produced. Quite often, bilirubin accumulates in the skin and causes it to appear yellowish (Jaundice). In the worst cases, biliribin accumulates in the brain (Kernicterus) and causes mental retardation or death. 

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Source: http://www.newbornscreening.ph/

My initial reaction was relief that it was indeed G6PD Deficiency and not something else. Among the 6 conditions included in the test, G6PD Deficiency was the least serious and it had no medical intervention needed afterwards.

After confirming quatitatively the amount of G6PD level Matilda had, we came back to her Neonatologist-Pediatrician, with the result. The doctor explained that this condition is common among Filipinos and there is no need to be alarmed.

Since Matilda is breastfed, I had to ask the doctor if eating food that is found to be harmful for her condition is safe. He said that only very little to none is passed on to breastmilk that may cause harm or reaction on Matilda. A BREASTFEEDING MOM OF A G6PD- DEFICIENT BABY DOESN’T NEED TO RESTRICT HER DIET AT ALL. And since I knew that this was the mild type, I trusted him and did not restrict my diet in any way. He also explained that he advise against diet restrictions when babies already start eating. What he suggested was to introduce one type of food at a time and observe for any reactions if there is any. Common immediate reactions are:

  • paleness (in darker-skinned kids, paleness is sometimes best seen in the mouth, especially on the lips or tongue)
  • jaundice, or yellowing of the skin and eyes, particularly in newborns
  • an enlarged spleen
  • dark, tea-colored urine

So we followed what he said and just took extra care on the medicines and other substances that may pose a potential threat to Matilda’s health. Substances containing high oxidative properties such listed here:

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As you can see, there are a lot of things to avoid and most of them are food we, Filipinos usually eat. But as I have said, I never restricted Matilda to such foods. In fact, she eats them regularly but in moderation. It’s not that I am not concerned about her well-being but it is more for the fact that I want her to be able to live a normal life just like anybody else. Just like any food we have at home, we rotate them and never eat them every single day, so that saves me from the worry that she might be overly exposed at some point.

Matilda now 1 and a half years old is a healthy breastfed baby and a happy eater, too. We do not let her condition define her life, rather, we look at it as a blessing. A lot of people mistake G6PD Deficiency for a sickness that is incurable and we aim to educate them that this is something you can live with. Something you can control. We pity those who are misinformed and those who are very cautious to the point that the life of the child becomes burdened with the thought that he is suffering physically and that his life is always at risk. Let’s not think this way and inform ourselves instead. Learn to do your research and do not rely on the internet for all the information. Not everything you will find there is true and reliable.

Most studies made about G6PD Deficiency were done abroad. Countries like China and Indonesia where this condition is also prevalent. Another blessing that this condition bring is that people found to be positive with it are living in areas endemic with Malaria. Why? Researchers have found evidence that the parasite that causes this disease does not survive well in G6PD-deficient cells. So they believe that the deficiency may have developed as a protection against malaria. See? G6PD Deficiency isn’t all that bad! Even though these studies are not yet a 100% proven, it gives me hope that God created this for a purpose. Just like here in the Philippines wherein Malaria is considered endemic, in Palawan and Tawi-Tawi specifically, it makes me at ease that she is somehow resistant to something. No, I don’t allow her to be bitten by mosquitoes because there’s still a chance she might have Dengue virus and we don’t want that either. But I’m sure you get my point! Anyway, if you looked at the list I included above, one particular group of medicines contraindicated are Antimalarial drugs – these are medicines to treat or prevent Malaria. Amazing isn’t it? God made the condition in such a way that, yes, you may have G6PD Deficiency but you are protected from Malaria and the harmful effects of the medicines needed to treat it. God is good, indeed!

Newborn screening is really important and I am glad that we have this available at any hospital. Because of this, we found out Matilda’s condition and also learned that Joey and I happen to have it too. At least now we know what (medicines) to avoid and what to do in case of emergency. It only goes to show that this is really common here in our country. And if your son or daughter has it, they got it from you as well. In our time, we don’t have this screening yet but we were able to live a normal life not needing to avoid anything. So please don’t over think the condition. Get yourselves informed and find a way to cope with it just like what I did.

People who have been tested and proven to have G6PD Defiency are not allowed to donate blood so make sure you are aware of this. And based on my research, we are also at risk of developing Gout. This I did not find on the internet before, but I read in our Clinical Chemistry book way back in college. I believe that it’s true since Joey and his brother both have high levels of uric acid in their blood. This affects men more than women and it can be serious especially if you are overweight or if there are underlying medical conditions like Diabetes and Hypertension. Gout affects Joey’s brother more than the G6PD condition itself so it’s best to keep your diet away from food that triggers gout such as the one’s listed here:

Now that you are aware of G6PD Deficiency, what do you need to do as a parent?

1. Make sure to get a newborn screening procedure made for your baby. If you found out he/she is positive for G6PD Deficiency, get a confirmatory test right away and have his Pediatrician informed immediately.

2. Commit 100% to BREASTFEED YOUR CHILD. This will not only protect them from the dangers of feeding formula milk but it will also greatly benefit their health in the long run. Remember that formula milk is processed and it usually contains soy!

3. Make sure always have the list of things to avoid wherever you go. This will come in handy if ever your child needs any medical attention. Post it on the door of your fridge or if your child goes to school, insert it in this bag and inform him about the copy in case of emergency.

4. Inform every person your child interacts with. Let them know he is not sick and what they have is not contagious. Allow them to grow up understanding what it is they have and explain to them why there is a need to avoid certain things. Do not scare them or deprive them. The list only says to avoid but not to entirely eliminate them especially for the list of foods.

5. Allow you child to explore most especially with food. Let them eat those listed above, in moderation and just observe them for possible reactions. That way, you’ll be able to pinpoint which to avoid next time. I would suggest a food diary in the early months (6 months and above) when they start eating. That way you’ll be able to keep track of what they eat and be able to rotate them.

5. Lastly, take comfort in knowing that God is with you and will never forsake you.

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Deuteronomy 31:8
The LORD himself goes before you and will be with you; he will never leave you nor forsake you. Do not be afraid; do not be discouraged. (NIV)

 

I hope I was able to share the most important things about G6PD. How about you? Is your child positive too? How are you coping with it? If you happen to have questions you may leave a comment and ask me. If I know the answer I will get back to you right away, but if not, I will do my research first then we’ll talk about it!

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