Health care providers in Yakima County have noticed a higher incidence of neural tube birth defects in the past two years.
Washington state health officials are investigating but, so far, have found nothing to link any of these cases.
These birth defects can be fatal in some cases, and health providers like Susie Ball, genetic counselor at Memorial Family of Services, are encouraging women of childbearing age to be more vigilant about healthy behaviors.
Listen as Susie gives you the best advice on when to see a genetic counselor and what you can expect from that visit.
Selected Podcast
Birth Defects in the Yakima Valley
Featured Speaker:
Susie Ball, Genetic Counselor
Susie Ball is a board certified genetic counselor who started the Central Washington Genetics Program at Yakima Valley Memorial Hospital in 1981. She provides a full range of genetic counseling services, including concerns about pregnancy, birth defects, health and learning issues in children, adult-onset conditions or family history and genetic testing. She has a bachelor's of science in biology from the University of Colorado in Boulder and a master's of science in genetic counseling from the University of Colorado Health Sciences Center in Denver. Transcription:
Birth Defects in the Yakima Valley
Melanie Cole (Host): Healthcare providers in Yakima County have noticed a higher incidence of neural tube birth defects in the past two years. Washington State health officials are investigating but so far have found nothing to link any of these cases. My guest today is Susie Ball. She’s a genetic counselor at Yakima Valley Memorial Family of Services. Welcome to the show, Susie. Tell us a little about what’s going on with the neural tube birth defects and what you see as a genetic counselor.
Susie Ball (Guest): Well, thank you very much for having me. Neural tube defects refers to two specific different birth defects. The most serious of those is anencephaly; spina bifida is less serious, although both can be very serious birth defects. Basically, it’s referring to the neural tube, which is what we call the nerves and the brain early on in the fetal development. Those are supposed to close over, sort of make a tube. And then when the baby is born, the nerves have become the spinal cord, they’re inside the back and protected by skin and muscles and bones, and the brain is inside of the skull, protected by bones and skin again. A neural tube defect is when that doesn’t close the way that it’s supposed to. You can have an opening on the back, low or high on the back, or you can have an opening actually on the top of the head. If the skull doesn’t close and the brain is exposed, that’s anencephaly and generally not compatible with life. Babies do sometimes live for a short period of time, but it is not something that can be fixed and that baby is going to live with. Spina bifida is going to be more serious if the opening is higher on the back, because in general the nerves below the opening aren’t going to work the way they should. And so, a higher opening is going to impact more nerves. Babies with spina bifida, a sort of general pattern would be that they can have problems controlling their legs, problems walking, problems controlling when they go to the bathroom. They can have learning problems. It can be serious as well, but many babies with spina bifida can be successfully treated and can do well, and so it’s a completely different situation, sort of life planning, than anencephaly would be. They seem to be of the same cause, just different ends of the spectrum. The cause is not well understood but seems to be partly a genetic susceptibility plus some kind of environmental exposure during the pregnancy that sort of triggers that defect in the fetus that is at risk. As a genetic counselor, we see people who have questions about birth defects. “Is my baby going to be okay?” Or if we find one of these defects during the pregnancy, we would be able to talk to a family about what was found and what are options for dealing with it and what about recurrence risk in other pregnancies or the other people in the family. The genetic counselor’s job is to provide information. If family has questions about this kind of defect, our job would be to try and answer those questions.
Melanie: Is there a way to prevent birth defects?
Susie: There’s not a way to prevent all birth defects. There’s certainly a way to prevent some birth defects. Some birth defects are just caused by things that happen during the pregnancy, like drinking alcohol can cause birth defects. And so obviously you can prevent that birth defect. Spina bifida, not a specific way that we know of to prevent it because it is partly genetic, but one of the environmental factors that we are aware of is folic acid. Everybody should have some folic acid in their diet. Some women seem to have a lower level, and women with a lower level of folic acid in their system have a higher chance to have a baby with spina bifida or anencephaly. Our recommendation is that all women take folic acid. And since most pregnancies aren’t planned and since you need to take the folic acid before you get pregnant, our recommendation is that all women of childbearing age take folic acid always. In that way, they’ll know they’ve had enough folic acid before they got pregnant. What happens is if a woman goes, “Oh, I’m pregnant. I should start taking my vitamins,” or whatever, it’s too late. For the fetus, the back has already either closed or not. The folic acid isn’t as helpful when you take it so late in pregnancy. The ideal time is before you get pregnant. And what all of us should be taking is standard doses, 0.4 milligrams of folic acid. That’s the amount that’s in a standard one-a-day kind of vitamin. It’s not a hard amount to find and to be able to take. You don’t need a prescription. It’s just a one-a-day kind of vitamin.
Melanie: If women are looking at the labels, Susie, it’s not usually listed in milligrams, so micrograms, 400 to 800 is generally what we see in these multies. Would you suggest that a woman of childbearing age or a pregnant woman up that a little and look for one that maybe even has up to a thousand? Is 400 generally enough?
Susie: Four hundred is probably enough in the general population. If somebody has a family history or they had a previous child with spina bifida, there’s a reason that we are extra concerned about them. Some medications can impact folic acid so we recommend people having to take that medication take more. If people have to take more, generally we don’t want you to take two vitamins or three vitamins, so you can get prescriptions for just folic acid. But for most people, the 400 micrograms will be appropriate. Taking too much -- as for many things, more is not necessarily better. Taking too much of it can mask some other health issues. We don’t want you to take too much. Anywhere between 400 and 800 is fine, unless there’s a family history of something. And if somebody has a family history or is concerned that they are at higher risk to have a baby with a neural tube defect, we’d be happy to talk to them and make sure that we’re getting them prescribed the correct amount.
Melanie: If women have concerns in a pregnancy for some kind of birth defect, what can they expect from their appointment with the genetic counselor?
Susie: As I said before, genetic counselor’s job is to provide information. I think what I found -- my experience would be that most people are more worried about risks than the numbers might suggest. They generally find talking to a genetic counselor to be helpful in reassuring risks are lower than they thought, or at least they understand better what is going on. The first thing we’re going to do when somebody comes in is try and find out exactly what risks there might be for that person, which will include drawing a family tree, getting the family history, asking about any kinds of worries or concerns during their pregnancy, asking about what other concerns or issues they are worried about, and then trying to answer all those questions and lay out what background risks are for everyone, what extra risks we may have identified in them, what kinds of screening or testing options might be available to them. I think the genetics is different than a lot of other things in medicine. The example I usually use: if you had appendicitis, the doctor would sort of say, “Okay, you have to have your appendix out.” There wouldn’t be a discussion about do you want this or not. It would just be scheduled. In genetics, the genetic counseling part is information about what’s available, what are the pros and cons of doing this or that test, taking this or that medication. Then the patient can make an informed decision. I think sometimes people think that if they come in, we are going to do tests to them. That’s just wrong. If they come in, we’re going to talk with them. We’re going to explain what’s available, and then we’re going to be their advocate for doing whatever they wish. If what they wish to do is nothing, no testing, we’ll be their advocate for that. It’s information so people can make decisions that they are comfortable with, that fits their values and their beliefs.
Melanie: Do they ask you for help with what they should do with that information you give them?
Susie: They do sometimes say, “Well, what would you do?” The problem with me telling them what I would do is I probably, because I’m not them, don’t have the exact same beliefs or values, the exact same things that are important to me. So that, I think, my answer may not be helpful to them. What the genetic counselors can do is talk about, “Well, I know a family who made this decision, and this is what was important to them. And then another family made this decision because this was what was important to them.” Just sort of point out what were the factors that people were thinking about and sorting through. What made sense for them. Usually people can go, “That feels more comfortable for me. That’s where I belong.” It’s not really what I would do, but me pointing out what people thought about in making that decision.
Melanie: In just the last few minutes, Susie, please wrap up for us what’s going on Yakima County and give your best advice to listeners that are considering seeing a genetic counselor and why they should come to Yakima Memorial Family of Services for their care.
Susie: Memorial Family of Services is to help all of us to be healthy and genetic counseling fits right in with that. While we can’t change our gene, we can be informed about what effect our genes might have. Are there things we could do that might modify the effects of genes? We can be informed and participating in our healthcare. I think that that’s what Memorial Family of Services is interested in. It certainly is what the genetics program it’s interested in. I think that the best piece of advice for having a healthy pregnancy is to plan it. That sounds sort of simplistic; it really doesn’t happen nearly as often as we would like. So if somebody’s going to become pregnant, they need to say, “Well, I think I’d like to be pregnant next summer, so I am going to now stop drinking, stop taking drugs, eat correctly, exercise, take my folic acid, whatever,” so that they know that they were in the best spot when they got pregnant. I think that’s the best advice for all of us in terms of just making some specific plan for being healthy and taking care of ourselves.
Melanie: Thank you so much, Susie. It’s really great information. You are listening to Healthy Yakima. For more information, you can go to yakimamemorial.org. That’s yakimamemorial.org. This is Melanie Cole. Thanks so much for listening.
Birth Defects in the Yakima Valley
Melanie Cole (Host): Healthcare providers in Yakima County have noticed a higher incidence of neural tube birth defects in the past two years. Washington State health officials are investigating but so far have found nothing to link any of these cases. My guest today is Susie Ball. She’s a genetic counselor at Yakima Valley Memorial Family of Services. Welcome to the show, Susie. Tell us a little about what’s going on with the neural tube birth defects and what you see as a genetic counselor.
Susie Ball (Guest): Well, thank you very much for having me. Neural tube defects refers to two specific different birth defects. The most serious of those is anencephaly; spina bifida is less serious, although both can be very serious birth defects. Basically, it’s referring to the neural tube, which is what we call the nerves and the brain early on in the fetal development. Those are supposed to close over, sort of make a tube. And then when the baby is born, the nerves have become the spinal cord, they’re inside the back and protected by skin and muscles and bones, and the brain is inside of the skull, protected by bones and skin again. A neural tube defect is when that doesn’t close the way that it’s supposed to. You can have an opening on the back, low or high on the back, or you can have an opening actually on the top of the head. If the skull doesn’t close and the brain is exposed, that’s anencephaly and generally not compatible with life. Babies do sometimes live for a short period of time, but it is not something that can be fixed and that baby is going to live with. Spina bifida is going to be more serious if the opening is higher on the back, because in general the nerves below the opening aren’t going to work the way they should. And so, a higher opening is going to impact more nerves. Babies with spina bifida, a sort of general pattern would be that they can have problems controlling their legs, problems walking, problems controlling when they go to the bathroom. They can have learning problems. It can be serious as well, but many babies with spina bifida can be successfully treated and can do well, and so it’s a completely different situation, sort of life planning, than anencephaly would be. They seem to be of the same cause, just different ends of the spectrum. The cause is not well understood but seems to be partly a genetic susceptibility plus some kind of environmental exposure during the pregnancy that sort of triggers that defect in the fetus that is at risk. As a genetic counselor, we see people who have questions about birth defects. “Is my baby going to be okay?” Or if we find one of these defects during the pregnancy, we would be able to talk to a family about what was found and what are options for dealing with it and what about recurrence risk in other pregnancies or the other people in the family. The genetic counselor’s job is to provide information. If family has questions about this kind of defect, our job would be to try and answer those questions.
Melanie: Is there a way to prevent birth defects?
Susie: There’s not a way to prevent all birth defects. There’s certainly a way to prevent some birth defects. Some birth defects are just caused by things that happen during the pregnancy, like drinking alcohol can cause birth defects. And so obviously you can prevent that birth defect. Spina bifida, not a specific way that we know of to prevent it because it is partly genetic, but one of the environmental factors that we are aware of is folic acid. Everybody should have some folic acid in their diet. Some women seem to have a lower level, and women with a lower level of folic acid in their system have a higher chance to have a baby with spina bifida or anencephaly. Our recommendation is that all women take folic acid. And since most pregnancies aren’t planned and since you need to take the folic acid before you get pregnant, our recommendation is that all women of childbearing age take folic acid always. In that way, they’ll know they’ve had enough folic acid before they got pregnant. What happens is if a woman goes, “Oh, I’m pregnant. I should start taking my vitamins,” or whatever, it’s too late. For the fetus, the back has already either closed or not. The folic acid isn’t as helpful when you take it so late in pregnancy. The ideal time is before you get pregnant. And what all of us should be taking is standard doses, 0.4 milligrams of folic acid. That’s the amount that’s in a standard one-a-day kind of vitamin. It’s not a hard amount to find and to be able to take. You don’t need a prescription. It’s just a one-a-day kind of vitamin.
Melanie: If women are looking at the labels, Susie, it’s not usually listed in milligrams, so micrograms, 400 to 800 is generally what we see in these multies. Would you suggest that a woman of childbearing age or a pregnant woman up that a little and look for one that maybe even has up to a thousand? Is 400 generally enough?
Susie: Four hundred is probably enough in the general population. If somebody has a family history or they had a previous child with spina bifida, there’s a reason that we are extra concerned about them. Some medications can impact folic acid so we recommend people having to take that medication take more. If people have to take more, generally we don’t want you to take two vitamins or three vitamins, so you can get prescriptions for just folic acid. But for most people, the 400 micrograms will be appropriate. Taking too much -- as for many things, more is not necessarily better. Taking too much of it can mask some other health issues. We don’t want you to take too much. Anywhere between 400 and 800 is fine, unless there’s a family history of something. And if somebody has a family history or is concerned that they are at higher risk to have a baby with a neural tube defect, we’d be happy to talk to them and make sure that we’re getting them prescribed the correct amount.
Melanie: If women have concerns in a pregnancy for some kind of birth defect, what can they expect from their appointment with the genetic counselor?
Susie: As I said before, genetic counselor’s job is to provide information. I think what I found -- my experience would be that most people are more worried about risks than the numbers might suggest. They generally find talking to a genetic counselor to be helpful in reassuring risks are lower than they thought, or at least they understand better what is going on. The first thing we’re going to do when somebody comes in is try and find out exactly what risks there might be for that person, which will include drawing a family tree, getting the family history, asking about any kinds of worries or concerns during their pregnancy, asking about what other concerns or issues they are worried about, and then trying to answer all those questions and lay out what background risks are for everyone, what extra risks we may have identified in them, what kinds of screening or testing options might be available to them. I think the genetics is different than a lot of other things in medicine. The example I usually use: if you had appendicitis, the doctor would sort of say, “Okay, you have to have your appendix out.” There wouldn’t be a discussion about do you want this or not. It would just be scheduled. In genetics, the genetic counseling part is information about what’s available, what are the pros and cons of doing this or that test, taking this or that medication. Then the patient can make an informed decision. I think sometimes people think that if they come in, we are going to do tests to them. That’s just wrong. If they come in, we’re going to talk with them. We’re going to explain what’s available, and then we’re going to be their advocate for doing whatever they wish. If what they wish to do is nothing, no testing, we’ll be their advocate for that. It’s information so people can make decisions that they are comfortable with, that fits their values and their beliefs.
Melanie: Do they ask you for help with what they should do with that information you give them?
Susie: They do sometimes say, “Well, what would you do?” The problem with me telling them what I would do is I probably, because I’m not them, don’t have the exact same beliefs or values, the exact same things that are important to me. So that, I think, my answer may not be helpful to them. What the genetic counselors can do is talk about, “Well, I know a family who made this decision, and this is what was important to them. And then another family made this decision because this was what was important to them.” Just sort of point out what were the factors that people were thinking about and sorting through. What made sense for them. Usually people can go, “That feels more comfortable for me. That’s where I belong.” It’s not really what I would do, but me pointing out what people thought about in making that decision.
Melanie: In just the last few minutes, Susie, please wrap up for us what’s going on Yakima County and give your best advice to listeners that are considering seeing a genetic counselor and why they should come to Yakima Memorial Family of Services for their care.
Susie: Memorial Family of Services is to help all of us to be healthy and genetic counseling fits right in with that. While we can’t change our gene, we can be informed about what effect our genes might have. Are there things we could do that might modify the effects of genes? We can be informed and participating in our healthcare. I think that that’s what Memorial Family of Services is interested in. It certainly is what the genetics program it’s interested in. I think that the best piece of advice for having a healthy pregnancy is to plan it. That sounds sort of simplistic; it really doesn’t happen nearly as often as we would like. So if somebody’s going to become pregnant, they need to say, “Well, I think I’d like to be pregnant next summer, so I am going to now stop drinking, stop taking drugs, eat correctly, exercise, take my folic acid, whatever,” so that they know that they were in the best spot when they got pregnant. I think that’s the best advice for all of us in terms of just making some specific plan for being healthy and taking care of ourselves.
Melanie: Thank you so much, Susie. It’s really great information. You are listening to Healthy Yakima. For more information, you can go to yakimamemorial.org. That’s yakimamemorial.org. This is Melanie Cole. Thanks so much for listening.