[0:01]Hi, my name is Keely Harris. I'm the President and Founder of G6PD Deficiency Foundation. This video is going to provide you a wealth of information in regards to a condition called G6PD Deficiency. Many of you probably have never heard of it before until someone you know is diagnosed. You're going to receive key points from brilliant physicians that give care to those in the G6PD deficiency population. You're going to visit parents, children, and families that were also affected by G6PD deficiency. You are going to become an advocate for your family. So relax, take the journey, learn how to keep your child safe for a lifetime.
[0:54]Hi, I'm Banu Aygun. I'm a pediatric hematologist. I take care of children with blood disorders. I'm Sarah Milburn. I'm a pediatrician in New York City. I only take care of newborns in the first few days of their life. G6PD deficiency is when we have reduced levels of the enzyme G6PD in our body. G6PD is short for glucose 6 phosphate dehydrogenase. It's an enzyme that's in all of our red blood cells and it keeps our red blood cells kind of strong and healthy. Everyone has some, but some people have more kind of typical amounts and other people have less and we say that they could be deficient. It is very common. It actually affects more than 400 million people worldwide. It's very common in Africa, India, Mediterranean, Middle East, and Southeast Asia, but as a result of the migrations, it's now all over the world, including North America and Northern Europe. Most people will never know that they have it because it doesn't affect their life in any way. But for some individuals if they become in contact with certain triggers, they could become extremely sick. Currently there is no treatment for G6PD deficiency. However, we can prevent hemolysis by avoiding the triggers. So hemolysis is when your red blood cells don't live their typical lifespan. For adults, the red blood cells last about 120 days, but if something makes your red blood cell break apart at 30 days, then it didn't live as long as it typically would. If a lot of your red blood cells are all breaking apart earlier, then we say that you're hemolysing or you're having a hemolytic crisis because your number of red blood cells could decrease so rapidly, um, that you could start to feel symptoms of being anemic, uh, which is having too few red blood cells. When the red blood cells break down, the hemoglobin, which is inside the red blood cell, now comes out of the red blood cell and turns into bilirubin. Bilirubin stains the skin and the eyes and so that's what we call jaundice. The skin and eyes would look yellow. When babies get above a certain threshold, then we do treatment to bring the bilirubins down and that's called phototherapy. So as a pediatric hematologist, I have seen and taken care of many patients with G6PD deficiency. In most of them, uh, the disease is mild and, um, my role is to become the educator to tell them about what triggers to avoid. And when to present for medical attention. When Luke was, before he was diagnosed, um, I would notice that he would be pale, but I, I didn't know why. I wasn't really thinking along the lines of G6PD because I was not aware of this diagnosis, but I've seen him be very pale. I even have pictures of him as a baby where he was very pale and possibly he was hemolysing and I just didn't know. Luke was 10 months old. So we were just introducing new foods and I thought, oh, well, and let me feed him father beans because it's a big staple in our culture. So I gave him, I think it was a Tuesday. I gave him a few spoons and he didn't have any reaction. So by Friday, I'm like, oh, I'll give him Father Beans again and he took a full plate of it. And the next day in the morning, I looked at him and he was so pale. I noticed he was very sleepy, but I'm thinking, well, he must be really, you know, he has a virus, so that's going to take him to the doctor. And I was in a rush, so I left, but within me being at work within an hour, I got a phone call basically saying that he's in intensive care and he, um, got taken by an ambulance. And, um, he had about four or five blood transfusions. It was very intense. I mean, we almost lost him. So what I, uh, typically tell my son to watch out for and for myself as well is dark colored urine. That's one of the main ones that we look out for. Also extreme tiredness, fatigue, back pain, uh, that is something that we watch out for. So by the time I got to the hospital, he's laying on this bed where the bed background is blue and he is yellow. When I tell you yellow, I mean, he was yellow. I was familiar that G6PD, uh, deficient individuals could get jaundice. So I was prepared for jaundice, but I wasn't aware of the negative impact or the severe impact that jaundice could have on a newborn. I first found out about the diagnosis of G6PD deficiency after my newborn had a significant decline in his health. Um, my son James, uh, was born a perfectly normal newborn. Um, but about 10 days after he was born, we were in, uh, the emergency room because he was severely jaundiced. You're more vulnerable when you're a baby having this deficiency. They have a term called kernicterus, which means, um, you become brain damaged because you become extremely jaundiced. Kernicterus, um, may lead to long-term neurologic deficits in the children. Um, my grandson was diagnosed with G6PD deficiency about two weeks after he was born. He became jaundiced and, uh, he was allowed to go home after phototherapy. He went home with his parents and little did we know that over the weekend, he became extremely jaundiced again. And, uh, it was not until the following week, the doctor, um, decided to get his Billy Reuben level tested again. And, um, it was off the charts. Uh, we didn't know, but, um, at that time because it was so high, he became, um, he got brain damaged from it. And the more and more I learned about this, I realized that, um, this is something that could have been prevented. If the doctor only knew that my grandson had G6PD deficiency. While we don't want to scare people, we do want to equip people with understanding that jaundice can have really severe consequences on a child's brain. Oftentimes with G6PD deficiency, there's no known trigger or exposure or anything for that baby, but they could still all of a sudden become very yellow and need to seek medical care right away. So you need to be able to counsel a family, if your baby starts to all of a sudden look like this or all of a sudden gets significantly worse. Uh, you need to see a doctor right away. So if we find out that a baby has G6PD deficiency, uh, we inform the mother that especially if she's breastfeeding, she should avoid triggers that could lead to breakdown of the red blood cells in the baby. There are three categories of triggers that families who have a child with G6PD deficiency or if you have G6PD deficiency yourself or if you're a physician caring for someone with G6PD deficiency that you need to be aware of. There are foods, medicines, and chemicals. For foods, the main thing that people have to be mindful of is fava beans. If a person with G6PD deficiency eats fava beans, um, they could become extremely sick. We've had a few times where, um, we were on a gluten-free diet and, um, I had gotten gluten-free brownies or whatever it was and there was father bean within the flour. If you walk into Whole Foods today, you can see on the shelf fava bean chips. It's very important to read the labels, obviously. Blue coloring is another one that I try as much as possible to keep my son away from. Sometimes on birthday parties, they have um blue frosting on cakes which I can't have, so I normally just like take it off. For medicines, there are a few categories of medicines. One is medicines that prevent malaria.
[9:27]So if someone is going to be traveling somewhere where malaria is common, they may take a medication every day or to prevent themselves from getting sick from malaria. Um, and that is a medication that could cause someone with G6PD deficiency to become very symptomatic. And there are certain antibiotics that are problematic. They are referred to as sulfa drugs, the most common being bactrim. The third category is chemicals. I think this is the category that people are least familiar with in terms of G6PD triggers. The most important chemical that I always bring up to all the families that I care for, whose child was just diagnosed with this condition is mothballs. The chemical in mothballs is called Naphthalene and it can cause a G6PD hemolytic crisis in someone with the condition. Um, there are cases of a baby becoming extremely sick, extraordinarily jaundiced, um, after just being wrapped in a blanket that had been in a closet with mothballs. Henna hair dyes, they might be choosing to use those products because they're more organic, but if you have G6PD deficiency that can actually make you very sick. So a lot of the triggers for G6PD, they are so random. And it seems like a really difficult list to have memorized, but it's having this knowledge that lets you make the safe choice. And so you can have a completely normal life, as long as you have this knowledge and as long as you're mindful of the things that you're putting around you and into your body. One of the common misconceptions about G6PD deficiency is that people think it only occurs in males. It is definitely more common in males, however, there are females with G6PD deficiency. You cannot look at a baby and determine that they have G6PD deficiency or not. You either do a DNA test or you do a quantitative blood test to see if they are deficient of this particular enzyme. If I could advocate for children with G6PD to a politician, I would first be advocating for the ones that we don't know have G6PD and really reinforce the need to do a very simple test, a very cost effective test that would allow us to have that information up front. There are adults that were never screened that actually have this condition and they don't know it and up to this point, they haven't been exposed to a trigger, but they're a walking time bomb in some ways because they don't have the tools to prevent that from happening. We really need to make sure that we're getting more information out to the population so that they know what they can do to prevent any kind of severe impact on their lives. And also to make sure that if, if in fact, you have this in your bloodline, then the rest of the family is aware of it as well.
[12:26]I have a 15-year-old son who's deficient. I'm deficient and my dad is deficient. Having a G6PD diagnosis can come off sometimes as a shock, but it doesn't have to limit you and you can really be whoever you want to be. My son plays basketball, he's in 10th grade, he does well, he's very active. I like to play piano, I like to swim, go outside, have fun. I do skiing, sledding, swimming. I basically do everything. G6PD isn't really limit what you can do. I mean, I think the only thing that is really important for people to understand, is not to be afraid of G6PD. While it may sound really complicated and it may sound really frightening in the beginning, having the information is a gift. You are blessed to know that your son or daughter is deficient. It is such a huge advantage to be able to take precautions and live a very healthy lifestyle with the condition. It's a smooth ride, it's a very smooth ride. For more information about G6PD Deficiency, please go to the website G64Health.org.
