Speaker 1 00:00:06 <inaudible> disability and Todman
Speaker 2 00:00:36 So you insights into ideas about and discussions on disability topics. My name is Sam I'm. The host of the show. Charlene doll is my research team. Thanks to Mason Butler for recording this episode. If you'd like to join us by being connected, you may email
[email protected]. Today's episode is spinal bifida. We have with us Dr. Daniel <inaudible> and Jay Armstrong. Dr. Guillaume is a pediatric neurosurgeon at the university medical school. And Jay Armstrong is a parent, uh, with a child with spinal bifida. Hello gentlemen.
Speaker 0 00:01:19 Hello. Oh,
Speaker 2 00:01:21 Sam. Thank you both for joining me. I really appreciate that. Um, did I get your title right Dr. Guillaume?
Speaker 0 00:01:28 Uh, yes. Thank you. Okay,
Speaker 2 00:01:30 Excellent. And I want to start out with you by talking a little bit about how you chose the path you chose with, um, with your being a neurosurgeon and choosing spinal bifida.
Speaker 0 00:01:44 Well, thanks. Um, and again, it's wonderful to be here. Um, yeah. So as you said, I'm a, I'm a pediatric neurosurgeon and, uh, we take care of a lot of patients with spinal bifida and I came, I, I kind of, it was a kind of a, not a very straight path. Initially when I went to medical school, I wanted to become a neurologist. Um, and I sort of, um, during my later years of training, I went into the operating room to, to just kind of broaden my perspective and I sort of kind of fell in love with neurosurgery and ended up going down that path. And it was during my training that I became very interested in, in particularly the pediatric neurosurgery, um, because a lot of these patients, these kids, um, taking care of them can be very challenging and also very gratifying at the same time. These kids have, um, sometimes very serious problems requiring, you know, a lifetime of care. And, um, when you make a difference in a child's life, um, it's really, you're affecting a whole lifetime.
Speaker 2 00:02:46 I'd like to, uh, talk about exactly the definition of what is spinal bifida.
Speaker 0 00:02:53 Uh, sure. So yeah, spinal bifida is really, uh, a broad term. Um, and it really, it really refers to a, a cleft, um, or an opening and the, uh, the vertebrae of the spine. Um, it it's something that it's part of a neural tube defects the way, uh, the way people develop spinal bifida and, you know, again, it's many disorders, uh, it happens really early on in their development. So after, um, you actually, within the first month of gestation, um, when the, when the embryo is formed, part of the tissue, um, is meant to become the whole central nervous system and the skin. And, um, the central nervous system begins as a little groove in that tissue and the re the sides come up as ridges. And eventually this becomes a tube that closes and for, for, uh, some reasons which we actually don't completely understand, um, when this neural tube fails to close completely, there ends up being a gap, uh, in the back and that that can allow, uh, varying degrees of problems to occur from, from no problem at all to the contents of the spine coming out. So that's, um, that's what spinal bifida is. There there's many types of diseases within that.
Speaker 3 00:04:07 So what are the risks of having a child with spinal bifida?
Speaker 0 00:04:13 Um, I'm sorry. Do you mean the risk of, uh, the risk of developing that? Uh, yeah, so, so, uh, great question. So there's many, um, there's, there's both genetic and non-genetic things which can lead to spinal bifida, which can increase somebody's risk. Um, the genetic parts of this, we've known this for, you know, more than 50 years, um, but there's a genetic component. And we think that probably between 60 and 70% of people who have spinal bifida is due to a gene defect. And we know this, um, because back in the 1960s, even people were doing familial studies and they were learning that, uh, um, if a child is born into a family and has spinal bifida via the next child has, uh, uh, between a two and a 5% risk of developing the same disease, which is about 20 to 50 times higher than the general risk.
Speaker 0 00:05:08 And, um, you know, the further cousins have a little bit of a lower risk and so forth. And those genetic factors haven't quite been worked out. And there's a lot of other things that increase the risk of that. Um, the most well-known is probably a diminished co-leads, uh, people have fully deficiencies or don't take vitamins, they can, um, have a significantly increased risk. Um, other factors would, um, maternal obesity, um, has been reported where if, um, if the mother has, uh, a high body mass index, particularly greater than 30 or 35, there's a higher chance of developing that. And it appears to be the, um, the higher that BMI is the higher their risk. Um, maternal diabetes also can predispose to, uh, a wide range of birth defects, including spinal, I mean, negate again, a hyperglycemia increased glucose is probably the, the factor behind both of those. Um, there's some, uh, drugs of valproic acid is a common one. This is a drug that's used to treat seizure disorders. And when, when women take that during their first trimester of pregnancy, it can increase the risk by by 10 times. Um, and then there's some environmental factors that have been, um, studied that, which can also increase the risk, um, toxins and pollutants and agent orange is one of them that's been investigated. Um, and, and people feel that it has, uh, a role in increasing the risk.
Speaker 2 00:06:37 So in lieu of all those factors you gave, um, are there any other ways of reducing the risk of having a child with spina bifida?
Speaker 0 00:06:48 Yeah, that's a, that's a great question. So, um, probably the most well-known, again, is weight, um, fully deficiencies. So this was, um, this was, it was discovered that fully deficiency can increase the risk because, um, people were, um, studying, looking at, um, uh, comparing families of children that had spinal bifido, um, with those that didn't, and then looking at maternal folate metabolism. So this is, again how it actually works is not really well known, but fully it is a, is a B vitamin. And, um, um, this has led to mandatory folic acid pornification of, um, grain products. And, uh, doctors in the USA have told women of childbearing age to take prenatal vitamins, which have folic acid. And, and if somebody has a high risk, um, isn't one of those categories we talked about earlier, they should take more folic acid take the prenatal vitamin amount is about 0.4 milligrams per day. And if somebody is at high risk, they should take four milligrams a day. And this has really decreased the risk of, um, of all neural tube defects, including spinal bifida by across the world by, um, 30 to 40%.
Speaker 2 00:08:05 It sounds like there are, you know, all nerd neuro tube defects are not spinal bifida, but is there more than one type of spinal bifida?
Speaker 0 00:08:14 Um, yeah, that's a great question. And, um, again, there's kind of a range and it depends on the location and how big the defect is. Um, the, the most common way people think about it is open defects and closed defects. And with that, what I mean by that is if the skin is covering the lesion or not. Um, I think that the, uh, example that most people think of is myelomeningocele, um, which is, which would probably be the most severe form that's when, um, the defects, uh, is quite large. And, um, the muscle is involved. The fascia, the bone is open the dura and all the coverings of the spinal quarter are spread apart. And in fact, the spinal cord herniates out for the defects in the bone and comes out outside of the skin. And it's kind of like a book that's opened up where all the pages are open and when the child is born, you can actually see their, um, their, their spinal cord on their skin.
Speaker 0 00:09:17 And, um, there's usually a lot of fluid with that that can, um, that can, uh, can result in a lot of problems, uh, depending on how high the lesion is. Um, typically there's, um, a lack of function below that level. So, uh, motor function, um, sensation us, which can cause pressure sores, um, have trouble with bowel and bladder function, uh, orthopedic deformities, like club, foot, um, all these things. Um, another type of open defects. That's not quite as severe is when, when only fluid comes out the spinal fluid and the spinal cord and all the nerves remain inside. And that really doesn't cause any major problems. Um, the skin covered lesions, um, the most mild form is something we call spina bifida occulta, um, in, in, in most of those conditions, people don't even know they have the disease, this affects anywhere from 10 to 15% of all people. Um, and that can really just be a little cleft in the bone where everything else is normal. Um, and there's another type of, there's another range, I guess, of, um, of closed defects, where, where there can be fat tissue if it's, um, kind of involved with spinal cord elements and, um, other tissues that can create varying degrees of disability. So there really isn't a lot of varieties.
Speaker 2 00:10:46 I want to go back to something you said in regards to the open, uh, spinal cord, where you said sometimes just a loss of fluid and that that's not as bad. It sounds horrible. Can you replace that or how, cause the fluid should be, uh, something that is incredibly useful for a person? Um, what do you, what happens then?
Speaker 0 00:11:14 Yeah, great question. So, yeah, so I, I guess I didn't explain it very well. So, um, what, what it is is spinal fluid. So, so what happens with, uh, with a Meninga seal as opposed to some myeloma, um, uh, refers to myeloma is Latin for spinal cord and, um, meningo refers to the meninges. So myelomeningocele is where the spinal cord and the meninges, the meninges are the covering of the spinal cord, where that all herniates out through the defect, uh, meaning the seal is where only the dura, which is the covering of the spinal cord, um, kind of protrudes out. So it's like a hernia that pokes out through the, uh, through the back and the other tissues. Don't close around that. And what is, what is inside that sack of fluid is spinal fluid. And we, we actually produce cerebral spinal fluid in our brains. Um, and throughout our bodies actually continuously, we make a lot of spinal fluid every day. So, uh, when you, when a child is born with that really, it's just a matter of, um, kind of reducing the hernia, putting, um, getting rid of the excess fluid, putting the, um, the normal meaningi or dura back in to the tunnel where they belong and then, uh, putting everything back together, kind of like folding the pages of the book
Speaker 2 00:12:36 And presumably the brain will replenish the spinal fluid.
Speaker 0 00:12:41 That's exactly right. Yeah. It takes about our brains can replenish all the spinal fluid in our body in less than 12 hours. Wow.
Speaker 2 00:12:49 Wow. That's amazing. Um, how often does spinal bifida occur and is there a gender or ethnicity preference?
Speaker 0 00:12:59 Yeah. Um, great question. Suspended bifida is, um, pretty common in the world. It's actually one of the most common congenital malformations in the world. Um, the, the estimate, the worldwide estimate is around one in every 2000 births worldwide. And that it, um, like you said, it does vary a lot from, from place to place. Um, and, and within different types of people, there's, um, there's always known to be some geographic variation in that. Um, uh, for example, uh, in the world Ireland and Scotland have very high frequent frequencies. Um, it's about 10 per 1000. Um, that's a great question. It's actually not known. I don't know the answer to that. No, I don't think anybody really knows. Um, there's, um, in the U S it's much lower and, um, and there is some, um, some variation and, and, uh, race, uh, for example, Hispanics have the highest, um, incidents with about four out of every 10,000 in non-Hispanic Hispanic whites. It's a little bit more than three out of 10,000. And in, um, African-Americans, it's lower around two and a half out of 10,000. And, um, the, um, it's a little bit higher. It's a little bit more common in females and again, for an unknown reason and, um, it's hard to measure. So, so there's the geographic variations. Um, it's, uh, the reason it's difficult to really know is because in certain areas, people are more likely to terminate their pregnancy, um, than others and that sort of confounds the measurement a little bit.
Speaker 2 00:14:46 And so, uh, originally did you say one out of every two and overall
Speaker 4 00:14:53 Yeah. Overall, yeah. There's about every, um, every year there's about 140,000 new cases in the world
Speaker 2 00:15:00 Percentage wise. Does that feel high to you?
Speaker 4 00:15:04 Yeah. Yeah, it does.
Speaker 2 00:15:09 Jay. Um, I wanted to go to you, you are a parent with a child with spinal bifida. How old is she?
Speaker 4 00:15:18 Um, Sophie is now 12 years old and in seventh grade.
Speaker 2 00:15:23 So tell me this story.
Speaker 4 00:15:26 Well, um, I guess the story, uh, for most of the families that you talk to that have a child or children was buying a bifida is, um, the first ultrasound. And so we had the first ultrasound, um, for Sophie who happens to have a twin sister who does not have spina bifida. Um, and so at the 20 week ultrasound and I I'm still on the list, but they identified it at 20 weeks.
Speaker 2 00:16:00 Wow. Uh, Dr. Gilmer, I'm just curious. Uh, so this was a case of twins. One was spina bifida and one without in the case of when you have twins, is that a usual thing?
Speaker 4 00:16:15 Yeah. So great, great question. Yeah. So even though the incidence is higher, um, within a family, um, it's still, um, it's still a rare disease, so it's more, it's more likely to not have an affected sibling then than there is, but just compared to the general population, there's a bit of a higher risk.
Speaker 2 00:16:34 So jam go ahead and go on. I'm curious then what, what, you know, your reactions were obviously it was a shock and, and whatnot. And what, what were some of the decisions you made that and, and how did you redesign kind of your guys's lives to prepare for this?
Speaker 4 00:16:57 Well, I guess first of all, we felt very lucky that we were in the twin cities, um, because it really does have some world-class, um, medical facilities here. And so we, uh, we're going to United hospital and children's and St. Paul and, um, the doctor there had sent us to the ultrasound and we actually were able to meet with the genetic counselor the same day that we found out. Um, and yes, it was a shock. Um, Sophie has an older sister. Um, she had, well, two older sisters, but she had an older sister that had another congenital birth defect called trisomy 18 and who had died at birth. And so, um, to go in for a second ultrasound and have a congenital birth defect, um, revealed was even more of a shock knowing what had happened with her sister Lauren. Um, but because she was a twin, we were, um, we were given the option of terminating the pregnancy and, um, we, we weren't anywhere close to doing that. And, uh, but we were also, um, uh, we had been made known that because they were twins, they were going to be early. And so Sophie was actually born six weeks early, um, along with her sister and, uh, within 24 hours had her first surgery.
Speaker 2 00:18:31 And now she is currently in seventh grade. Talk a little bit about what, what kind of person she is today, how, what are, what are her strengths and what does she have difficulty with?
Speaker 4 00:18:45 Well, she's very vivacious, she's outgoing, um, and very engaging. And she there's a spectrum of, um, for spinal bifida, uh, kids and, and people in terms of, uh, how affected you are by this. And we felt very lucky that she's, she's on the very functional end. Um, 90% of kids, uh, or children that are born with spina bifida, uh, eventually ended up having a shunt installed within the first two years. And they tell you if you can make it to two years and you probably made it through the window. And Sophie was one of those 10% that did not require a shot. Um, so she's also ambulatory, um, which means that she can walk. She's got, uh, a funny gait. Um, but with her two sisters, she, you know, she does her best to try to keep up. So we, we mainstreamed, uh, Sophie, um, and throughout school, we made sure that she and her sister were in separate sections, um, in class. Uh, and luckily we went to schools and daycares that allowed for that to happen because we really wanted two things we wanted. Um, Sophie's sister, not to feel like she had to look after her sister all the time. And we wanted Sophie to really develop a, um, uh, an independence as well. And I think that's more than paid off so far.
Speaker 2 00:20:26 Um, Dr. Gilmer, I want to talk a little bit about, um, surgery since it seems like that's something that I saw kind of came up a lot and there was mentions of prenatal and postnatal surgery. Could you talk a little bit about the difference and why or what they would exactly
Speaker 6 00:20:48 Sure. Um, and it was, you know, it was great to hear Jay's story about Sophie that's. Um, so sounds like a good outcome. Um, yeah, so traditionally, um, so neurosurgeons get involved, um, kind of like what Jason, what Jay told you. This is, um, we, we get involved prenatally, usually it's when we meet the family, um, and started talking about surgery, but, um, kind of, as you heard, traditionally, the, the myelomeningocele would need to be closed usually within the first day or two after the child is born. Um, you know, the, the purpose of that is many fold. One is to, um, you know, restore normal anatomy, put the spinal cord back in where it belongs and close all the layers to the risk of infection. Um, ultimately you'd like to, um, and also to reduce the risk of something called tethering, um, where the tethering is, where the spinal cord is stuck to something, um, when, when the child's born, it's actually attached to their skin. So as they would grow taller, that would potential on the spinal
Speaker 5 00:21:51 And, you know, you want to,
Speaker 6 00:21:52 And also there's other, other benefits to that. Um, there's the rationale behind prenatal closure and what that, what, what prenatal closure means, um, is, is doing a hysterectomy halfway through the pregnancy, basically delivering the child and closing the defect at that time, and then putting them back in to complete the pregnancy. It sounds, sounds like a crazy thing, but it's not right, but this is, uh, this idea came up, you know, more than three decades ago. And, um, and people were doing it in, uh, in animals. And there was two rationales for doing that. One is when the, remember the, the, the event happens during the first month of gestation before people know that they're pregnant and, and there's a spinal cord that's outside of the body. That's, um, sitting in the uterus in the intra entry uterine environment in the amniotic fluid is actually toxic to that tissue.
Speaker 6 00:22:51 It's thought to be toxic to that tissue. So that can cause further damage the longer that it's exposed. So one when benefit was thought to, um, to sort of cover that tissue and protect it. And then the second is, um, people with, um, my eliminating the seal when, when the fluid is kind of draining out through the back, um, while the rest of the brain is developing, uh, the very back part of the brain, which we call the hindbrain, that's the brainstem and the cerebellum can, can actually slip down into the, uh, cervical canal, the, the, the part of the body where the cervical spinal cord should live, and that the brainstem can go down through there with part of the brain, because there's like a funnel effect, things are being pulled down for the back and that, um, and that actually affects the way the brain develops too.
Speaker 6 00:23:39 And that's why, um, like Jay said, 90% of these kids, um, can get a buildup of fluid on the brain, um, hydrocephalus requiring a shunt. So the, um, the, the idea was that if you can close these babies, um, uh, halfway through the pregnancy, you can prevent that from happening as well. So the first, the first time this was done successfully was in 1998 and a patient. And then a lot of people started doing this throughout the country. Um, and it was a little bit uncontrolled. So in, in 2003 there, uh, it was decided to do a study where, where the only people that would have this prenatal surgery would be, um, if they were enrolled in a trial, this was an NIH sponsored trial, and they called it the management of myelomeningocele study or moms trial. And, um, it was really, um, kind of a head to head comparison where, um, people were enrolled and then they were randomly assigned to either the traditional postnatal closure or to be done in utero, um, between 19 and 25 weeks gestation.
Speaker 6 00:24:46 And, um, there was the, the enrollment criteria was very strict avoiding people with high risk issues, like, um, maternal, diabetes, obesity, twin pregnancies, things like that. Um, and, um, the really they've looked at a few main outcomes. The primary outcome was if the kids would need a shunt, um, within their first 12 months of life or not, um, another one was if they would die, that was the, that was kind of the composite primary outcome. And then the other, um, things, it was sort of a, an assessment of mental and motor development by age 30 months and what they, they actually planned on enrolling 200 people. Um, and in 2010, they stopped the trial early, after only enrolling 183, because it was very clear that the prenatal group had better outcomes. Um, specifically the, the need for a shunt by 12 months, um, in the postnatal group, the, the traditional group, it was about 80%.
Speaker 6 00:25:51 And in the prenatal group, it was 40%. So really only about half. And that was because of this, um, this hindbrain herniation problem was significantly better in the prenatal group. And, um, walking was also much better, you know, their motor function score was a lot higher in the prenatal group. Um, it was, um, it was 42% of people were walking independently at 30 months in the prenatal group compared to only 21%, um, in the traditional group, uh, really, really a lot of benefits. There was a few downsides, um, for the mother, you know, having a, having a history, uh, halfway through your pregnancy predisposes to, um, to preterm labor. So these, um, the mothers who underwent the prenatal closure had had their deliveries on average, about three weeks
Speaker 0 00:26:44 Earlier, it was about 34 weeks gestation compared to 37 weeks and the other group. Um, and then also some of these, they were more prone to uterine dehiscence, but overall, um, overall it looks like it's a better thing for the baby, um, now, and, and more and more centers are doing that.
Speaker 2 00:27:02 So, uh, presumably this, this would mean that Sophie's mom would never have been a candidate because she was carrying twins and this particular thing also, um, the idea that, uh, for the mom, did you say a hysterectomy is performed
Speaker 0 00:27:22 That's well, yeah. So what you, basically, the way that the procedure is, um, is done, uh, through it, um, you know, the, an abdominal decision, the baby, the incision, the baby is brought out and the myelomeningocele is closed, and then the baby is put back in to complete the pregnancy. Okay.
Speaker 2 00:27:39 But does this eliminate the mother ever having future children, right?
Speaker 0 00:27:45 No, they, they can have, um, down the road. Good question.
Speaker 2 00:27:49 So, um, so this particular thing, uh, ranks much higher to be able to do it prenatal,
Speaker 0 00:28:00 Correct? Yeah. And people are even, um, it looks like it's better overall, you know, with, um, again, you want to, certain people are not eligible. It's not, um, you know, people have looked at this very carefully and it's, it's good for some, but not for others. Um, I guess I, um, Jay Jay's example, you know, Sophie might be an example. So for, for, for example, um, patients that had either really high, my limiting, the sales and the thoracic area, um, or really low ones in the sacrum, um, were excluded because those patients generally have, if it's the Rassic, they generally have very bad outcomes. And if it's in the sacrum, um, they generally have really good outcomes, no matter what. So it's, so it's no reason to put forth the risk there. And also all the patients that were enrolled had a Chiari malformation, which is that, that hindbrain herniation problem I talked about. So it's really, it's a select people.
Speaker 2 00:28:57 And the, uh, the prenatal surgery sounds like it's fairly complex. I presume that there are only a very, you know, that it would be very expensive and that there's only a few hospitals that do the microsurgery type thing.
Speaker 0 00:29:14 Yeah. That's a really good question. And it's, again, it requires a real, you know, kind of a specialized team, including a fetal medicine surgeon, as well as a neurosurgeon. And, you know, everybody else, the, there are quite a few more centers doing it now. And I don't really know. I can't tell you how many across the U S but many people are, um, are developing the expertise because it is such a, such a good thing. If
Speaker 2 00:29:42 One is carrying twins, I presume the reason that you couldn't, uh, do the surgery would be at risk of losing the other twin.
Speaker 4 00:29:52 Exactly. Right. Yeah. Yeah. And I should mention that the techniques improving some, um, in some places this, um, there's something called Peter scopic, basically, it's an endoscopic technique where you can, um, people are actually able to do the procedure through a really small incision where they can put into scopes. And so that's, um, the technology is developing and I think things will get much better
Speaker 2 00:30:16 This time. I want to, um, talk briefly Jay, about, I, I presume Sophie had the surgery after she was born.
Speaker 4 00:30:26 She did. Okay. And, uh, so within 24 hours, um, she had the surgery. And so like, um, Dr. Gail had mentioned the three types of, um, uh, spinal bifida, which is, uh, a neural tube defect. Um, uh, Sophie has the myeloma Ninja seal, um, which mean, that means that she had a part of her, uh, spinal column protruding out her back when she was born. And so, uh, it was actually a holiday when she was born and the, uh, surgeon was actually brought in on his holiday and perform the surgery.
Speaker 2 00:31:08 Wow.
Speaker 4 00:31:09 And then she, she stayed in the hospital along with her sister, um, uh, and, uh, neonatal ICU. But amazingly enough, she actually came home before her sister did it.
Speaker 2 00:31:25 Oh, really? Wow.
Speaker 4 00:31:29 And
Speaker 2 00:31:30 What did you Mark that down for? How, how do you suppose she was able to do that?
Speaker 4 00:31:35 Um, we always, the intra family legend is that, um, uh, her sister Dee just wasn't ready to come home yet or be born yet. She wanted us, she, she thought it was a little early. And so she had had problems maintain your body temperature. And that's why her sister, uh, remained in the ICU a few more days after Sophie came home. But I, I forgot to add that when families get together and those with, um, uh, spinal bifida, um, almost immediately, everybody kind of identifies like, well, I'm an in Sophie's case, she's in L five L four, I'm in my own NGO seal. And then, uh, everybody else will offer up what their, where their opening is in their spine and, and select the doctor said, you know, those patients that actually have very high, um, openings, um, near the, um, near the neck, sometimes they're not really affected, um, but slightly lower
Speaker 6 00:32:40 Down. And then the profoundly affected
Speaker 2 00:32:43 Dr. Gillum. Is it common that if one has twins and one is affected with spinal bifida, the other twin has problems as well? Maybe not necessarily that, but with other things or are they left untouched?
Speaker 6 00:33:00 Yeah. Great question again, it varies quite a bit. Um, I think the most, the most common thing we see is when, when, um, one twin has it, the other one is, is, is fine, is nor unless, unless there's some syndrome, um, unless that, you know, there's, um, um, like a chromosomal abnormality that they both inherited, but
Speaker 2 00:33:23 You both have mentioned a term that I'd like to discuss and make sure, um, my radio population understands what it is and it's hydrocephalus. Can you talk a little bit about what that is and, um, how that affects things?
Speaker 6 00:33:40 Yeah, I'm sure I'd be happy to, to talk about that. Um, yeah. Hydrocephalus is a, uh, it is a pediatric neurosurgeon. It's actually the most common condition we treat overall. And, and like Jay said, that happens in, you know, 85 upwards, you know, depending on the level, um, you know, 85% of patients with, um, with spinal bifida. So what, what that is, um, people you've probably heard hydrocephalus means water on the brain, and it's not exactly that, but it's, um, it's surreal, it's a buildup of cerebral spinal fluid within, um, within, inside the brain. It's actually in the middle of the brain. So there's, there's four fluid spaces inside the brain called ventricles. And, uh, inside these, these spaces, we produce cerebral spinal fluid continuously, um, throughout our whole life. So it's like little faucets that are turned on. And in fact, as, as adults, we make about a half a liter of fluid every day, um, whereas our, um, and it, it circulates inside our brain and then outside our brain and outside of our spinal cord.
Speaker 6 00:34:44 Uh, and it ultimately has to get absorbed, um, into the venous system or into the lymphatics and hydrocephalus develops, uh, when the fluid is being produced, but there's been some sort of, um, obstruction in the pathway for clearance. So the way, the way I like to describe it to patients is it's like the faucet's turned on, but the, the drain is plugged up and, um, and the fluid is no longer getting drained. And sometimes, sometimes the drain is completely plugged, um, where there's no fluid getting out and that's a very severe type of hydrocephalus. And if that doesn't get treated, our patients can die very quickly. Um, and then oftentimes it's a slow leak, you know, it's, and again, you imagine your sink, whether some gunk in the drain or something like that, and it just kind of drains slowly. And, um, people that have spinal bifida example, this hindbrain herniation can interfere with the drain, with the clearance of fluid and that fluid can build up.
Speaker 6 00:35:45 It can happen very quickly, or like, like Jade mentioned, um, it can happen over a year or two, and that's the most common treatment for that is something called a shunt. Um, a ventricular peritoneal shunt, a shunt is a new drain. Uh, basically it's, uh, it's creating a new drainage system for the brain to get that fluid out. And, and, uh, it's a diversion. So one end of the, it's a tube where one end of the tube will go inside the ventricle. Um, and then it tunnels under the skin and the drains into another part of the body. Usually it's the peritoneum, which is, uh, uh, in the abdomen. It's the fluid space around all of the abdominal organs. That's the most common way we treat it. And again, um, uh, the amount of kids with spinal bifida who have hydrocephalus, it actually varies according to the level two, um, kids that have very low lesions in the sacrum, the incidents of, of hydrocephalus is much lower. And, um, if it's in a thoracic area, it's much higher.
Speaker 2 00:36:50 So it sounds like Sophie was, I think he said she did not need a shunt. It sounds like she was incredibly lucky. Yeah.
Speaker 6 00:36:57 Yeah. I think that's, that's great to hear that.
Speaker 2 00:36:59 So the shunt is you, you don't see it then if, if it's done you're it's yeah.
Speaker 6 00:37:07 Great question. So, yeah, there's, there's three parts to the shunt. There's the catheter that goes into the brain. There's the catheter that goes into the peritoneum in the abdomen. And in kind of between those two catheters up on the head, um, is a valve and the valve is, uh, regulates the flow. It doesn't allow backwards flow and, um, it keeps the pressure normal. And that sometimes you can see a little bump, particularly in babies. You could see a little bump where that CA uh, the valve is, but in most adults, you, you can't see the shunt.
Speaker 2 00:37:39 So presumably since the treatments have gone gotten better and better the life, uh, longevity of people, how long they live with spinal bifida is better and better. Okay.
Speaker 6 00:37:52 Correct. Yeah. And that's, um, that's exactly the case. In fact, um, several decades ago, we were taught when I was, when I was in medical school, we were taught to patients with spinal bifida would, would die in their thirties and forties. And that was, you know, that was according to old literature. Um, and then we were, you know, there there's some people who say that the mortality is around 1% per year from age five onwards. That's actually probably, um, really not the case anymore. Most of the patients would, would die from, uh, renal problems or, uh, shunt problems, um, and obstruction of their shunt. Um, so hydrocephalus and, and the, the reality is, is we've really learned how to treat these conditions much better in the last few decades. Um, and we have a handle on all of these things. So kids are really, um, I should say, adults are living normal lives. Um, and we see, you know, we have spinal bifida patients in their seventies now. And, um, things just keep getting better.
Speaker 2 00:38:56 I presume that there's some kind of different Stoll with, uh, how well patients do from being treated in the 1960s or whatever, as opposed to now, or in two thousands or even 1990s.
Speaker 6 00:39:12 Yeah, exactly. That's exactly right. So it's hard, right? So the people that we're seeing that are in their fifties and sixties now, remember they, they have not had the modern treatments they've, um, exactly right. So, so will the stuff that we've been doing in the last decade or two really, we're going to need 50 years to know the outcomes of that, but I, but I really think it's, um, things have turned around.
Speaker 2 00:39:40 So I, is there a way to go back and do anything different with some of these people that are older and didn't have them I'm thinking particularly with shunts or whatnot, maybe that would have been changed how you do things with them.
Speaker 6 00:40:00 Yeah. Um, absolutely. So yeah, one of the, one of the downsides to a shunt that I didn't mention is they, they are mechanical devices and they, um, they tend not to be perfect. So they, um, they require maintenance. They can, they can get plugged up, they can get infected. Um, and when that happens, they, they need to be fixed. And, um, when people who have, uh, if somebody comes in, that's 50 years old that had a shunt put in, uh, in 1970, if they come in with their shunt malfunction are, um, that's for one thing, that's pretty good if they went that long, but the tendency is to replace it with a modern device. Um, and we, we have modern techniques that are, that make the shot less likely to fail or get infected. Um, and I think the same is true for all types of medical care.
Speaker 2 00:40:52 Uh, there are, sounds like, you know, it feels pretty scary talking about this in regards to all the things that may have to go on. Um, anytime you mess with the head or the brain to me is, is one of those, you know, I always think of as taboo things you should not touch. Um, is there a lot of learning disabilities that happens with things like this?
Speaker 6 00:41:18 Uh, that's a really good question. Um, it's been, it's sort of, um, there's sort of some controversy and it, and it really varies a lot. Um, in, in general, when people have looked at this very seriously, most patients with spinal bifida have normal intelligence, and, um, a lot of the reports will record up to 80% of children with spinal bifida. Um, don't have learning difficulties. Um, certainly, um, hydrocephalus can, um, hydrocephalus itself, if it's not treated well, um, can cause learning difficulties. Um, there's um, there are some patients with spinal bifida have some problems that can actually interfere with their learning that are a little bit indirect. Um, for example, um, you can imagine being a, being an elementary school child, having problems with bowel and bladder function, or maybe wheelchair is something that can be associated with things like anxiety and depression, um, which can interfere with learning. So sometimes focusing, you know, those, those are all complicated issues that can all interfere with a child's ability to, to kind of focus and learn if they're dealing with those, those issues too. Um, but in general, uh, people with spinal bifida have normal intelligence
Speaker 2 00:42:47 J uh, how would anybody know that Sophie had spina bifida?
Speaker 4 00:42:53 Uh, the first telltale sign would be her gait the way she walks. Um, and a lot of times she'll walk with one or two, um, arm crutches. And so that's the first thing that jumps out. But, um, so as a, uh, elementary school student and now a preteen, um, it, the bowel and bladder issues are definitely profound in terms of, um, self-worth and self-esteem. So we chose for Sophie to have two pro uh, two surgeries, and she's had 13 surgeries so far. Oh, wow. But she's has what they call an, uh, she's had an ACE procedure and a metropolis troughing off of, I always get that word right or wrong. Um, so what she ends up having to do, and like the doctor had, had mentioned before in previous years, you know, the life expectancy was shortened due to renal failure in a lot of that, as I understand it is due to, uh, what happens with the kidneys when you're not able to evacuate. And you do that day in day out, and your kidneys really wear out. So with the <inaudible> and the ACE, um, Sophie actually has to use a catheter every two hours while she's awake to empty her bladder. And then, uh, once a day, she has to, uh, centrally out her colon, um, and remain on the, in the bathroom for an hour while that, uh, stimulates and flushes.
Speaker 2 00:44:33 That sounds like a rough, especially for a preteen, but, um, Dr. Gavin, you wanna speak to that? It sounds like this might be kind of common.
Speaker 6 00:44:46 Yeah. Thanks. And I'm really glad that, that, um, Jay's here to talk about Sophie. I think this really, um, you know, he's really, really kind of describing it very well, but these yeah. And it's really, like I said, it varies quite a bit there's, um, but, but urological problems, um, and bowel problems. And I mean, I really J J explained it very well. Um, this is, um, cleaner bed and catheterization medications and oftentimes, um, a nice procedure or a trophy enough to help people keep their bladder empty, um, to re to avoid hydronephrosis. These are very important things. And sometimes, um, yeah, bowel function is, is a big one. A neurogenic bowel, um, can result in constipation and a very aggressive bowel regimen is, uh, uh, is a common thing. Um, there's um, because the sacral really that's the, um, the lowest nerves that come out, um, S two, three and four are the nerves that innovate our bowel and bladder. Those are lower than the nerves for our leg, and Much lower than that, um, to avoid all of this, um, there's other things that can happen to kids can get, um, uh, if the lesions a little bit higher, um, orthopedic problems, um, scoliosis, um, sometimes trouble, um, moving their ankles back and forth. So they need to wear braces on their feet in order to walk. Um, um, you know, we've talked about hydrocephalus,
Speaker 2 00:46:29 I'm wondering, um, with the bowel and bladder, uh, any thoughts of anything going on now that could help in the future to change any of this, both with people with the existing problems and people that will have children with this.
Speaker 6 00:46:50 Yeah. Um, so just, just with regard to bowel and bladder, um,
Speaker 2 00:46:55 With this particular date. Yeah.
Speaker 6 00:46:57 So a lot of, yeah, great, great points. So there's a lot of things. Yeah. Really the goal of, um, the goal of the bladder procedures, um, is to, is to decrease the, the backflow of pressure going into the kidneys and really, um, people with spinal bifida just have trouble voiding, really a lot of this neurogenic bladder it's, um, there's, uh, uh, you know, it's just a trouble with problem with innovation to the bladder. So these, these procedures, um, you know, really helped quite a bit there's, there's other procedures, uh, injecting Botox and things like this to, to kind of expand the bladder, but it's all meant to just decrease the pressure inside the bladder. Um, the, the goal is, you know, re-integrating the bladder and making, making the bladder work. Um, there, there is research happening in that area. And I don't know the details behind that, but I know that's, there's a ways to go with that. Um,
Speaker 2 00:48:00 I just think about, you know, where right now they're kids, but later they'll transition into adults obviously. And, you know, you'll have that whole dating, which is difficult for anybody who has quote everything functioning, um, also your job and whatever else you have, uh, what is there to help them transition or is it generally left up to the parents?
Speaker 6 00:48:31 Yeah. So, um, are you asking me or Jay,
Speaker 2 00:48:34 Well, either one of you, whoever wants to answer it,
Speaker 6 00:48:38 Do you want to go first, Jay, or I can talk a little bit that you might have some good perspective on that. No, I'll let you go first and then I'll add in. Yeah. So, so yeah, so, so there's, uh, um, actually, you know, it's really a family, um, having a child with, and I, and I, I can't speak, I can only speak from the perspective of a doctor. I'm sure Jay Jay's perspective will be much more realistic than mine. Um, since I'm a surgeon, um, who kind of just is focused on one aspect of, of this child's development, but family based interventions are becoming, um, it's, it's, it's pretty, it's pretty clear that, um, a lot of these people, as they grow up, they have, um, there's just like any child with a disability. There's a lot to overcome. I mean, it's hard enough to be at, um, to be a child without a disability.
Speaker 6 00:49:27 Even the, you know, it's, it's hard for some kids to, in, in this common world with social media and, um, you know, yeah, there's a lot that we're, that's just, it's hard for all kids. You throw on top of that, a disability that interferes with your bowel and bladder function, or that maybe puts you in a wheelchair. Um, that really, um, has to be extremely hard for kids and for families. So there's, I know that, um, most spinal bifida programs, there's a F a focus on, um, family-based interventions and kind of helping, helping people get through this. Um, you know, there's, you know, the psychosocial development and, um, quality of life, social skills, um, these things all have to be addressed, um, including depression and anxiety, which is, um, which is higher, which is more common and that like that. So, so it really, um, it requires, uh, an effort and a focus throughout all those developing years.
Speaker 2 00:50:31 Did you want to add anything to it?
Speaker 4 00:50:33 Well, I was just going to backtrack a little bit and go back to, um, potential treatments. And from a family's perspective, I think in the spinal bifida support world, there's a lot of hope, um, that at some point, um, STEM cell research might be helpful. And I know there's a, uh, a clinic out in California, that's really on the cutting edge of this, but I was also going to add that there are also clinics not inside the U S I know of one in Taiwan and one across the border in Mexico that are already doing some experimental treatments, um, for spinal bifida, um, by injecting, um, STEM cells into the area and, and using various chemicals to try to, uh, repair certain sets of, um, uh, injured, uh, nerves. But those are rather expensive. They, the last time I checked, they were like $25,000 on up. And it's, there's a good deal of concern as to whether they do anything or they might be harmful.
Speaker 2 00:51:44 So Dr. Gum, how close are we to this? As far as if we have the FDA and everything, but realistically, do you see promise with this?
Speaker 6 00:51:55 Yeah, so that's, uh, yeah, this is a great, um, in terms of, there's a lot of research happening, um, and, you know, look looking at improving function. Um, so STEM cells, um, you know, it was actually decades ago when people started looking at, um, injecting STEM cells into the spinal cord for a variety of things, including spinal bifida. Um, and with there's there's research looking at, um, for example, during intrauterine closure, um, of treating of injecting STEM cells at bedtime. Um, and then also like, like Jay was saying, um, after the child is already born people who are much older are getting, um, are going out of the country for STEM cell therapy, um, to have these cells directed directly into their spinal cord. And there's, um, the two, uh, the two thoughts are one, um, can these, these cells, those are actually a variety of different types of cells that have been used, um, cord, blood STEM cells, um, induced pluripotent STEM cells.
Speaker 6 00:53:02 Um, there's quite a few different types. Um, part of it is thinking that these cells can differentiate into neurons and, um, supportive cells of the spinal cord and integrate and become part of the, um, spinal cord tissue in a lot of the, um, studies have, have, have not shown that that actually happens. In other words, the neurons don't really axons and, and connect very well to the other cells. Um, and B become part of the neural network. Um, they, they do change. The micro will be called a micro environment, so they can, they can, um, create a, an environment through secretion of growth factors and trophic factors that can promote kind of recovery of the spinal cord. And there's, there's certainly, um, uh, I know it's being done in Mexico and I know I'm in California. There's a lot of, um, research being, being done. I haven't, I don't know of any, um, I don't, I don't know of any FDA approval for anything in this country right now. And I don't think I'm, I don't, I'm not aware of any NIH supported trials or anything like that. So I think it's still at the early stages. Um,
Speaker 2 00:54:14 Dr. Yam do work in somebody go, if they're interested in getting involved in studies or want to find out more about what they can do with spina bifida,
Speaker 6 00:54:25 To me, you mean to, um, to enroll to. So, um, yeah, so I, I, I don't know since we're not doing any, um, clinical trials here, I guess I'm not aware. I know if you go to clinical trial.gov, there there's a list of all, and there's a, there's a way to search for spinal bifida. Um, th that's one way to find out. And I, um, I haven't been on the spinal bifida websites for, you know, there's, there is a spinal bifida foundation, Jay, you might more know more about this. Um, they might have access to that, but I don't, I think it's hard for a parent to find, um, clinical trials, unless there's a network through this foundation. I don't know if she's aware of anything.
Speaker 4 00:55:19 Well, so on the flip side, there's about four kids a day in the United States, I think is the average, right? So from, with spina bifida in, in some form, um, so the other kind of problem for SoFi, or one of the situations she runs into are finding other kids with the same condition. And, um, so there's, uh, Sanford health, uh, provides a, a camp every summer for spinal bifida kids only that I know is very popular. Um, but outside of the week with the camps, it can be very tough to find other playmates and, and parents that have this, that they can actually interact with and kind of commiserate and, and enjoy themselves. Right.
Speaker 2 00:56:11 Well, we need to wrap things up. Um, so if each GBU wants to give any final comments or anything about, uh, spinal bifida or anything about, um, what you advice maybe you'd give to parents or anything like that.
Speaker 6 00:56:29 Um, I just want to say, it's, it's been a pleasure to be part of this. And I think things, I think things just keep getting better. There, there are, there's a lot, a lot of research happening on beyond STEM cells. People are looking at ways to, you know, I think the most important one, um, is trying to prevent this. If you can, you can imagine, um, how many people are born with this condition throughout the world. Um, and, and what, you know, w what costs this has on society, not just the monetary cost, but on, uh, quality of life and all these other things, if we could prevent this, that would be amazing. And I think that's, um, that work is, you know, first looking at understanding the genetics and how the neural tube closes, but, um, you know, fully, uh, supplementations are very cheap and easy thing to do. And that's, that's brought the world incidents down by up to 40%. Um, so I think, and there's other things happening. So I think the future is bright. I think it's, um, and I, and I have a lot of admiration and respect for, for children with this problem. And, um, and I think, um, it's a pleasure to be, to be part of their care team,
Speaker 2 00:57:42 Jay, any comments from you?
Speaker 4 00:57:44 Well, just, um, gratitude for the health professionals, um, because it's quite clear to us that Sophie's quality of life is dramatically better than it could have been. Had she been born in a different time or different location? And we've used just about all the facilities or, um, healthcare providers from the university of Minnesota to Gillette, to Shriners, to children's hospitals, and to have that local is just been so wonderful. And I just want to give a shout out to you as well, Sam, that even though you don't talk about spinal bifida all the time, it's really helpful and very interesting to have a show like this that really has these types of discussions about things that normally aren't brought up in regular conversation.
Speaker 2 00:58:34 Thank you very much. I do want to make a comment quick, but it seems like when I was growing up, I did hear about it more, um, very quickly, Dr. Kim, I don't seem to hear about it as much, and it, and you talked about how full it is, you know, making the odds better. Do you feel like that's what you're seeing?
Speaker 6 00:58:54 Yeah, I think that's exactly what we're seeing. Um, like I said earlier, there are, there are parts of the, um, of the country where, um, where the incidents actually went down because people, um, were actually terminating their pregnancies. Um, but that's, um, that's not such a factor here. And we actually are seeing a decrease, um, likely because of different prenatal care and full lead.
Speaker 2 00:59:19 I want to thank you both coming on the show. I really appreciate your time and you guys are what makes the show work? So thank you very much. My name is Sam. I'm the host of the show. This has been disability and progress. The views expressed on the show are not necessarily those of KPI or its board of directors. This is cafe 90.3 FM, Minneapolis and kpi.org. If you'd like to be a part of the email list, you may email
[email protected]. Today, we're speaking about spinal bifida and we're speaking with Dr. Daniel Gill and was a neurosurgeon at the university medical school in Minnesota. And with Dave Armstrong, who's a parent of a child with the spine of Bethany. Thanks so much for joining me. Good night.
