Disability and Progress-March 6, 2024-Dwarfism

[00:00:00] Speaker A: KPI.org. [00:00:59] Speaker B: And greetings and thank you for joining Disability and Progress where we bring you insights into ideas about and discussions on disability topics. My name is Sam. I'm the host of this show. Thanks so much for tuning in. Charlene Dahl is usually here, my PR research person, but she is alas, ill today. Feel better soon, Charlene. Erin is my podcaster. Thank you, Erin. And this week, Thursday, March 6, 2025, I think we're still there. Dr. Bradley Miller will be is joining me in the studio. Good evening, Dr. Miller. [00:01:33] Speaker A: Hello. [00:01:34] Speaker B: Thank you so much for joining me. And we're speaking about dwarfism, so thanks very much. Why don't you start out by giving me a brief history on you? [00:01:46] Speaker A: Absolutely. So I'm a pediatric endocrinologist. I work at the University of Minnesota M Health Fairview Masonic Children's Hospital. And I started there in 2003. My background as a pediatric endocrinologist, I take care of kids that have lots of different reasons for not growing well. That's my special area of interest. And most of the patients I take care of, but also other hormone disorders. And so I take care of some children that are cancer survivors that have hormone issues, kids who are born with hormone issues, et cetera. [00:02:24] Speaker B: Gotcha. We were talking before and you weren't always a doctor. You had an interesting lead into that. [00:02:32] Speaker A: Yeah. So I was telling Sam that When I was 15, I applied to be a DJ of a local country and radio station in Ishpeming, Michigan in the Upper Peninsula. And I didn't get the job. But after that I did some musical theater. And since then most of my speaking has been in front of audiences talking about how kids grow and other health problems related to endocrinology. So I actually do a lot of speaking. [00:03:03] Speaker B: Well, you would have made a great DJ because you got that great booming voice. [00:03:07] Speaker A: Thank you. [00:03:07] Speaker B: Thank you. So start out a little bit about talking about what is the medical definition of dwarfism? [00:03:16] Speaker A: Sure. So the medical definition of dwarfism is 4 foot 10 inches tall or 147 centimeters. And so it's basically statistical related to the general population of average statured individuals. And so individuals with dwarfism are short statured compared to the general population who does not have it. [00:03:43] Speaker B: We're going to be saying the word dwarfism a lot tonight. And I'm just curious, you know, nowadays and I have friends who bring this up like, it seems like there's so many changes to disability terminology. Is there one to that? [00:03:58] Speaker A: There is. And there have been a number of terms that are considered derogatory or inappropriate for individuals with short stature. And so I think it's appropriate in general to talk about somebody, a person with a particular condition, a person with dwarfism. Some people don't like the term dwarfism, and they want to be called by their specific kind of dwarfism. So, for example, we'll talk a little bit today about achondroplasia, which is the most common form of genetic dwarfism. And so an individual with achondroplasia, some people prefer a little person, some people prefer. [00:04:41] Speaker B: Which can also be condescending in a way. So it just goes to show, you know, it's all in the eye of the beholder or whatever you want to say it. You know, some people like certain things and other people don't. So for the purposes of this show, I want to make sure that dwarfism is an okay term to use. [00:04:58] Speaker A: It is the medical term, and I think it's still the most important. [00:05:02] Speaker B: Let's do it, then. So what are the most common causes of dwarf dwarfism? [00:05:06] Speaker A: So the most common causes that I see are actually chronic illnesses or chronic nutritional problems that affect children early on in their life when they're growing really fast and can't be caught up. And so some of that is children with chronic kidney problems, severe heart problems. I mentioned cancer treatment earlier, where someone has had treatment that's affected their ability to grow. And then I deal mostly with hormone problems that affect how children grow. And so there's a term called pituitary dwarfism. The pituitary is a gland in the brain that regulates how your body makes all of its different hormones. And so if it's not working, then somebody can have pituitary dwarfism, the most common form of skeletal dwarfism. And so that's a condition where the bones don't grow appropriately, even when they get all of the appropriate hormones, is achondroplasia. But there are actually quite a number of different forms of dwarfism. [00:06:19] Speaker B: So how is dwarfism diagnosed, and at what age can it be detected? [00:06:26] Speaker A: Yeah, so it's a great question. Some of the skeletal abnormality conditions that include skeletal abnormalities can actually be identified on ultrasounds before babies are born. And sometimes parents are aware that their child has a risk of dwarfism or likely will have dwarfism even before they're born. [00:06:51] Speaker B: Wow. [00:06:52] Speaker A: And so it's just because ultrasound has gotten so high resolution that they can see the bones better and start to recognize that some of them aren't growing as much as they should. We identify children with pituitary dwarfism. The Hormone problems, often around the time they're born, if they have a severe pituitary problem. But some of them can be identified later at different ages, during childhood. [00:07:24] Speaker B: So you talked about the most common kinds of dwarfism. How many different kinds are there? [00:07:30] Speaker A: So that's a great question. If we think about the skeletal forms of dwarfism, There are over 400 different versions of skeletal dysplasia that can affect your growth. And about 300 of them, we think, can cause people to be smaller than is typical. And that means about 100 can actually lead to normal size or even tall size. So there are some skeletal abnormalities that can make people taller than average, just like they can make people smaller than average. [00:08:05] Speaker B: So you talked a little bit about cancer treatments that could cause some people not to be able to grow. Can it take away their height, too? [00:08:17] Speaker A: So it can take away their height a little bit. It's hard to lose height. But, for example, in a patient who's had cancer treatment, the main population that I take care of that can have their growth impacted, received chemotherapy at a very young age that damaged the growth plate. Some have received radiation therapy. And radiation therapy, particularly to the spine, essentially makes it so that the spine doesn't grow as well as it should. And that's a really important part of how we grow. [00:08:55] Speaker B: Is it common, then, if people have dwarfism, that they have other disabilities? It sounds like it is. [00:09:02] Speaker A: It can be. And so some forms of dwarfism have other things that are always present, and others have some that are occasionally present. And so when I think specifically about achondroplasia, which is the most common form of genetic dwarfism, and a condition where the signaling in the bones to help them grow is actually affected so that the bones don't grow as long as they should, those individuals, aside from the small size, can have other problems because the bones aren't growing. And so just to go through a list specific to achondroplasia, very early in life, there's a hole at the base of the skull that the spinal cord comes out, and it's called the foramen magnum. And unfortunately, children with achondroplasia can have stenosis of that hole. So narrowing of that hole that can actually pinch the spinal cord, and that can be dangerous, can lead to sudden infant death syndrome because they're not getting the message that they need to breathe. It can lead to paralysis because the spinal cord is getting pinched. And so that's something that's watched very carefully in children with achondroplasia in the first several years of Life. As they get older or actually still when they're little, they can have problems where pressure can build up in fluid around the brain. And so they may need a shunt that helps drain Hydrocephalic. Right, exactly, hydrocephalus. So they can require a shunt that will help drain that fluid and relieve the pressure. They can also have a lot of problems with ear infections that can lead to hearing problems because the angle of the ear canals is affected by the growth of the bones in the face and the skull, and so the eardrums don't drain properly. And so the most common surgery for a child with achondroplasia is actually ear tubes. [00:11:29] Speaker B: It's so weird that you say it because I feel like kids in general have ear. A lot of, like, you know, ear infections because already their tubes don't drain well. Right? [00:11:38] Speaker A: No, that's absolutely right. And they're often related to common infections. But the challenge is with the tubes not draining well, they don't even need an infection to have fluid behind the ears. And so if that fluid never drains, then that can actually be like you're listening to somebody underwater because you always have fluid clogging things. [00:12:06] Speaker B: Right. How about life expectancy? Is there any difference with that? [00:12:13] Speaker A: So specifically for achondroplasia, the life expectancy is normal unless they have complications. And some of the complications, I didn't mention, sleep apnea. So some of the narrowing of the airway, tonsils and adenoids can clog the airway, and that can lead to sleep apnea both as children and as adults. And that can actually affect their long term health and could reduce their life expectancy. Many individuals with achondroplasia can develop stenosis, I mentioned, or narrowing of the base of the skull, but they can also have narrowing of other parts of the spine that can lead to paralysis or chronic pain. And when we see those kinds of complications, they can then lead to other challenges for individuals with achondroplasia. If we then think about children with other forms of dwarfism I mentioned, there are hundreds. There are some forms of dwarfism that actually cause premature aging. And so these are individuals who may be very young but look like they're very old. And they do have a shortened life expectancy because of the. It's called progeria is the kind of dwarfism that is. And so those individuals can be very short statured and can also look like they're much older than they are. [00:13:53] Speaker B: Right. And we all know we don't like looking older than we are. No, Dr. Miller, you mentioned a little bit about some. About some medical problems that are most common with dwarfism. So I think you mentioned heart and said there's breathing issues, but I must. And you probably mentioned bones. You definitely mentioned bones. But I presume that joint health goes along with this, right? [00:14:26] Speaker A: It does. And so the causes of dwarfism typically involve how the bones grow. And the way bones actually grow usually begins with cartilage, which is what we think of as typically being in the joints. And it's a different type of cartilage. But many individuals with dwarfism have a problem both with the cartilage and the bone. And so they can have joint issues. Sometimes that means the joints don't bend like they're supposed to or have. We call it a contracture where they can't extend it or stretch it as much as we normally would think that you should be able to. And that can lead to limitation in ability to move in whatever direction that joint is supposed to move. So that can cause limitations in the ability to walk or do physical things with their hands or their arms, we often think, because of the shortened appendages. So some conditions have shorter arms or shorter legs than other areas. And so the ability to reach up to comb your hair, to reach down to clean your bottom after you go to the bathroom, those can be limitations based upon. [00:15:53] Speaker B: I never thought of that. [00:15:54] Speaker A: Yeah, based upon your ability to reach those areas and to extend your arm fully, that can be limited. We see a number of problems with scoliosis, which is a curvature of the spine. [00:16:10] Speaker B: Right. [00:16:11] Speaker A: We can see kyphos, which is more of a bending forward rather than an S shaped curve of the spine. And those problems can cause issues with. Are people able to sit up properly or do they have discomfort when they sit up properly? And many of those conditions require different kinds of surgery to help normalize them or reduce pain associated with them. Them. [00:16:40] Speaker B: Let's talk about that. The different surgeries that people can have, how effective are they? [00:16:47] Speaker A: Yeah. So if you have scoliosis, the surgeries have. Or the treatments for scoliosis have ranged from bracing, which people will wear braces as much as 20 hours a day, where they're always wearing a brace that's trying to help the spine grow in a more normal position. That can be very effective with some kinds of scoliosis, but not with all forms. I'm not an orthopedist, so I can't tell you which ones are more likely to help. Many children need spinal rods where they actually put in rods that they attach to the spine. To help straighten it. And that can be very effective. And what's exciting is that over the years, they've developed rods that will grow with you so that in the past, you would only put the rods in when you were close to done growing, or if the scoliosis was so severe and you had to put it in earlier, it meant that your spine was done growing. They had to fuse the spine when they put the rods in. But now, with better technology, they can use growing rods, where, again, the first forms of growing rods, the child would have to go through an anesthesia every so often so they could actually help the rods stretch. But now they can do it with magnets without even needing to be sedated. Oh, cool. Yeah. So there's been amazing. They call them magic rods is what I hear. [00:18:22] Speaker B: Oh, wow. [00:18:23] Speaker A: Which I like the name. And so those surgeries can be very effective in growing children to help their spine grow more typically. But once your sp Spine is fused and that method, it does limit the ability for the spine to bend as much as it should, so you lose some flexibility because of that kind of surgery. The same kinds of surgery are done for kyphosis, the bending forward. But in general, that's usually in the upper neck. And they don't use the rods. They just use the fusion where the neck is then stuck, where it doesn't bend as much as it would. So they can be effective. The treatments for the stenosis or the narrowing of the spine, again, I'm not a surgeon. I think of it as a roto rooter, where you're just making the space bigger, and so you're removing some of the bone to help. And that's my simplistic view of it. But it's very effective in reducing the complications that I mentioned in the infant of pinching of the spine. And it can be used later in life when people get narrowing of the spine, whether it's of the spinal cord that's being impinged or some of the nerves that come out of the cord, and that the success with those treatments are less consistent just because sometimes the damage to the nerves has already been done before you recognize the problem. And so people can be left with chronic pain or paralysis if it wasn't recognized soon enough. And so it's really important for individuals who have achondroplasia in particular, but other forms of dwarfism, if there's a risk of getting narrowing of the spine as they get older, that they're monitored regularly by their primary care provider to make sure they're not having problems with weakness, they're not having problems with numbness, they're not having problems with incontinence or loss of bowel or bladder function or control, because those are early warning signs that those nerves are being damaged. [00:20:47] Speaker B: I presume that the term dwarfism is always attached to height. [00:20:52] Speaker A: It is, yeah. Okay, absolutely. [00:20:54] Speaker B: Because otherwise, I mean, you could probably have some of these other things happen in a person that might be, you know, five, six or five, seven or whatever. [00:21:03] Speaker A: Absolutely right. And I think the connection here is that because the long bones don't grow, often the bones involved in your spine also don't grow like they should. And so the same difference that affects the growth of the longer bones that makes you shorter than average also can affect how the other bones grow. And actually, when we later in our discussion, we'll talk about treatments, we'll talk about some of the new therapies and our hope that they can improve those complications long term as well as height. [00:21:40] Speaker B: So how common is dwarfism? [00:21:45] Speaker A: So the achondroplasia that I mentioned is about 1 in 20,000 people in the U.S. that would mean that there are about 17,000 people in the U. S. Affected by achondroplasia and about about just under 4,000 kids with achondroplasia. The pituitary dwarfism that I mentioned earlier is anywhere from 1 in 4 to 1 in 10,000 people. So these are all considered rare disorders, each individually. But when you add up all the rare disorders that we take care of in general, not just dwarfism, about one in every seven people have a rare disease. Oh, wow. Yeah, It's a big number when we add up all of the things that make us different. [00:22:34] Speaker B: And does this. Can this run in families? [00:22:38] Speaker A: Some of the forms of dwarfism can. And so achondroplasia is autosomal dominant, which means that if you have it, your children had an increased likelihood of having it. But in achondroplasia, actually, the majority of children with achondroplasia are born to average statured parents. And so nobody in the family has it, but two parents who were carriers came together and had kids. And that's how it happens. But children with achondroplasia can be adults with achondroplasia who can have children with achondroplasia. And sadly for achondroplasia, when two adults with achondroplasia have children, each of their children have a 50% chance of having achondroplasia. But more concerning, if they both get the gene, if they get the gene from both parents, they can have a much more severe kind of dwarfism that can affect. Affect life expectancy severely. And those babies, they have a form of dwarfism called thanatophoric dwarfism. And the reason it's called that is because it can cause them not to live very long because they have a very small rib cage, because the ribs don't grow well, and it can make it hard for their lungs to develop before they're born. [00:24:10] Speaker B: Yeah. So one of my questions was gonna be, can people bear children if they are dwarfism? Is it more difficult? [00:24:17] Speaker A: It is more diffic. And because the birth canal in the pelvis isn't as large because of the growth of the pelvis. And so most women with achondroplasia who have children have cesarean sections or C sections. And it really depends on the kind of dwarfism. More severely affected individuals may not be able to have children. But achondroplasia, specifically, they can. [00:24:50] Speaker B: Are there specific, like, devices externally that can assist people? I'm thinking that you're talking about the difference like an appendage. [00:25:03] Speaker A: Oh, sure, yeah. [00:25:04] Speaker B: So there must be different. [00:25:05] Speaker A: No, there definitely are different things that people will use as extenders. So, for example, the. I don't know the official term, but I've heard them called wands, where it's essentially an extender that has a pincher on the end of it that can hold something. And so, for example, in toileting, if somebody's having difficulty reaching, they can use something in their hand to extend and wipe. That's holding onto toilet paper or Kleenex or something like that. And so that's a common thing that individuals may use. The most common thing that I see people use is a step stool, which are really helpful. [00:25:52] Speaker B: I use one of those too. Me too. [00:25:54] Speaker A: Yeah. And so that's the most common assisted device. And so I take care of kids with different kinds of dwarfism. And parents will say, the only thing she needs in school is a step stool. Otherwise she's doing everything like the other kids. [00:26:10] Speaker B: That's good. [00:26:10] Speaker A: Getting up and being sassy and learning and running and playing and all those things. [00:26:17] Speaker B: Dr. Miller, I'm thinking driving would be an interesting experience. What happens there? [00:26:25] Speaker A: Yeah, it's a great question. And there are a number of adaptive devices that can be used for driving, which includes special cushions in the seat to help people be raised up appropriately, extensions on your blinkers and your other switches in the car to help with the turn signals or with the windshield wipers, extensions for the pedals. And that can be as long as 18 inches. Those extensions can come up. There's also times when people will use hand controls that are on the steering wheel that will help with all of those different things. So there are definitely a number of different adaptations that have been made, but it can be difficult to get those, to get them installed. Trying to pick the right, the vehicle, et cetera. Many, you know, it's an expensive process too, so trying to get all that stuff can be a challenge. [00:27:37] Speaker B: I know we've kind of talked about a lot of times where people will have other problems if they have dwarfism, but it is possible for somebody to totally not have like much of any problem, isn't there? [00:27:50] Speaker A: There is. And so I mentioned achondroplasia and I've been mostly focusing on that condition. And most individuals with achondroplasia sort of feel like this is just who they are and they don't really have to go to the doctor very often and don't have many problems. They're, you know, working typical jobs and going to school and doing lots of different activities that other kids do in school. So it may only be a visible difference in, in their size or sometimes their appearance as well because of the differences in the lengths of the arms or the size of the head. Those might be visible things that are different. But no, I would have to say that many people don't have many reasons to see the doctor. But when we count up the number of procedures that kids with achondroplasia like, surgical procedures that they need, they are seeing the doctors a fair number of times when they're kids, but again, not everybody. [00:29:02] Speaker B: So what are some misconceptions of dwarfism? [00:29:06] Speaker A: Oh, that's a great question. Misconceptions are that. Excuse me. That they're younger than they are. So because they're small people will think that they're young when in actuality they may even be an adult, but they're just small size. There have been myths and legends about dwarfism and about how dwarfism is caused and different things like that. And it's not because of anything anybody did. It's just a genetic difference that they were born with. [00:29:49] Speaker B: So I am thinking about how having any disability can create, you know, an impact on mental health and self esteem and just, etc, etc. I presume that there is quite a impact on dwarfism as far as self esteem or mental health goes. [00:30:11] Speaker A: There definitely can be. And part of that is related to stature, that being smaller may be a focus on that. It may be more so in men than it is in women. But it affects both sexes and genders. Just the otherness. Sometimes people will react to just being different, and that can affect the. I have a colleague with dwarfism who talked a lot about finding a partner and how challenging that was in terms of dating and whether or not they wanted to date somebody who was also short statured, who may or may not have the same kind of dwarfism they had, or wanting to date an average stature person and how challenging that was for them. So, as I mentioned, just being different can sometimes be a badge of honor, if you will, but it can also be. [00:31:25] Speaker B: Depending on how you look at it. [00:31:26] Speaker A: Exactly. But it can also be a label that really impairs those interactions. And mental health, I think, definitely is an impact on individuals with dwarfism. There isn't a specific genetic predisposition to the mental health concerns, at least in achondroplasia. There may be in some of the other forms of dwarfism, but the environment can lead to those mental health challenges. [00:31:58] Speaker B: I remember growing up where I was so sick of being different and so tired of being set apart. And one day somebody said, you know, Sam, nobody remembers the thing or the person that is just like 100,000 other people. [00:32:16] Speaker A: Yeah. [00:32:16] Speaker B: I'm like, oh, okay. [00:32:20] Speaker A: It's the part of what makes you. [00:32:22] Speaker B: Gives you a new perspective. [00:32:24] Speaker A: It does. [00:32:25] Speaker B: So I wonder, you talked about both females and males can have dwarfism. Is there a gender preference? There's not. [00:32:34] Speaker A: So there isn't. For achondroplasia specifically, there are some forms of dwarfism that are gender specific. So Turner syndrome is a form of dwarfism that affects only women. And it's a. [00:32:51] Speaker B: What is that exactly? What is it? [00:32:53] Speaker A: So Turner syndrome is where you're missing one X chromosome. [00:32:57] Speaker B: Ah, that explains it. [00:32:59] Speaker A: Yeah. So women in general have two X chromosomes and men have an X chromosome and a Y chromosome. And some women with Turner syndrome will have a mixture where some of their cells are missing one of the X's and some of their cells have both of them. We can actually see occasionally individuals with an XO where they're missing an X and an XY in some of their cells. And so that's not called Turner syndrome. It's called sexual genetic difference. I'm sorry, the term isn't coming to me right now. So Turner syndrome is specifically women, and part of the reason they don't grow well is that on the X chromosome is a gene that helps the bones grow called the Shox gene or Shox gene. And since they're missing one copy of it, their arms and their Overall, body doesn't grow as much as it should. And that can lead to them having dwarfism if they're not treated. The second reason they have impaired growth is that they can have ovarian insufficiency or ovarian failure where they don't go through puberty like they should and they don't have the growth spurt that you would expect for puberty. And so without treatment, the average size of an adult woman with Turner syndrome is 4 foot 8. So it fits in the category of people with dwarfism. But if we look at the average person who would be medically considered a dwarf dwarf, they're actually men are 44 and women are 4 1. So it's way below that 4 foot 10 that I mentioned. And if we look at specifically achondroplasia, men are 4 foot 2 and women are 3 11. [00:34:58] Speaker B: Oh, my. [00:34:59] Speaker A: So they're, you know, that's how severely affected they can be. [00:35:06] Speaker B: So thinking of social challenges is not going through puberty would be one of them, or, you know, not going through the typical puberty, we'll say. And dating might be one. Is there others that you can think of? [00:35:26] Speaker A: So we talked about the mobility challenges with cars. I think that's definitely. As kids are coming of age, wanting to be able to drive a car, that's a huge social aspect and needing accommodations for it. I think the inability to be involved in sports because of their size can sometimes affect things, but it doesn't. You know, there are definitely sports that are less affected by height. So I know individuals with achondroplasia who are excellent swimmers and competitive. [00:36:05] Speaker B: Or they could be small and quick. [00:36:07] Speaker A: Exactly, exactly. So I think many of the social things for adolescents are related to activities that they're involved in. And so not being able to participate in some of the activities, I think could be a challenge. [00:36:23] Speaker B: I'm always wondering about. I think back about the term how, you know, media, how. What they. What they feel about how media portrays them. And my brain always goes back to Snow White and the Seven Dwarves. Is that. Would you consider that a condescending. [00:36:48] Speaker A: Yes, okay. Very much so. And one of the other classic depictions is the wizard of Oz. And similarly condescending and derogatory in many aspects. The interesting thing about the wizard of Oz is that in that movie, there were a number of different causes of dwarfism that were. The individuals who were part of the movie had many different reasons why they weren't growing. And one of them I mentioned, pituitary dwarfism. Back when that movie was shot, there Wasn't any treatment for pituitary dwarfism. And individuals with growth hormone deficiency made up a significant portion of the little people population that now, since the late 60s and beyond, there are therapies that we have that we can treat that will help them grow and no longer be shirt statured. [00:37:54] Speaker B: Interesting. Yeah. So plays a little bit. They would probably have a much harder time finding some of them now. [00:38:02] Speaker A: Yeah. Because they're identified early and treated. And there are new therapies being developed for individuals with achondroplasia. And right now their main target is helping them grow. But our hope is that over the long term, that if we improve the growth of the bones, not only the long bones, but the spine and other areas, that we can reduce some of the complications. Like I mentioned, the spinal stenosis, the narrowing of the spine, the bones in the spine, and other things that cause problems as people get older. [00:38:40] Speaker B: So we talk a little bit about gender differences with dwarfism. What about race? [00:38:48] Speaker A: Race. So I'm not aware of any racial differences in the patients affected or children affected by dwarfism. So we see dwarfism all over the world. [00:39:02] Speaker B: Okay, then. An equal opportunist. [00:39:05] Speaker A: Yes. [00:39:06] Speaker B: I wonder if you would talk a little bit about the new things that are coming out. But I, you know, I hear about, you know, hormones for when you're giving kids to help them grow. Are there talk a little bit about the problems with that and is it controversial? Is it done a lot? [00:39:27] Speaker A: Sure. So for pituitary dwarfism, the condition is basically a deficiency of growth hormone and potentially other hormones. And so as I mentioned, in the late 60s, they first started having the availability of growth hormone to give patients. And since the 1980s, it's been quite available because they could make it in the manufacturing plant and have it available to give patients. And so when you're replacing a hormone that your body's not making, it shouldn't be controversial. The controversy has happened when, because growth hormone was now more available, people wanted to treat patients who were short but didn't have a growth hormone problem. [00:40:13] Speaker B: They were just naturally short. [00:40:15] Speaker A: Yeah. And we couldn't find a reason for their short stature. And it's called idiopathic short stature. And we do treat a number of children with that condition with growth hormone. And it is modestly effective. It really helps kids grow who don't make growth hormone. But the children who make growth hormone, normally when we give them extra growth hormone, it helps, but it doesn't help as much as if they didn't make it. So that's a little Bit controversial because people think that it may be more cosmetic than medically necessary. But when you are severely affected by short stature, we think that it's medically necessary to help those children be of average stature. [00:40:59] Speaker B: So what is your average stature height? [00:41:02] Speaker A: So the average stature for a woman is five five foot four and the average stature for a man is five nine and a half. The range of average stature for men goes from about 54 to about 6 2, and the average or the typical range for women goes from about 411 up to about 57 or 58 in the typical range. [00:41:31] Speaker B: Okay, so then if somebody with dwarfism is given growth hormone with pituitary dwarfism, does that help them get past that 5, 10? [00:41:44] Speaker A: So it doesn't typically help them get up to 5 10. It helps them get into the normal range. And so typically without growth hormone treatment, we'd expect them to be below the curve. And with growth hormone treatment, usually they're growing about where we would expect them to be for their family. So if they had tall parents, they might be 510 as a boy. If they had short parents, they might be 56 as a boy. As an adult, I should say. And for girls similarly, that if they were supposed to be 5 4, with growth hormone replacement, they can be 5 4. If we identify the problem and help them without treatment though, we'd expect that they'd be below the curve. [00:42:29] Speaker B: Oh, I see. Okay. Okay. [00:42:31] Speaker A: And women with Turner syndrome I mentioned, the Average height is 4 foot 8 without treatment. With treatment, we see many women with Turner syndrome over five feet and some taller than that. But we're not making people tall with growth hormone. We're replacing the difference and helping them be in the normal range change. And then with achondroplasia in the last several years, there was a new therapy to help them grow that targets the growth plate called C Natriotapeptide analog or vasoratide. [00:43:06] Speaker B: Okay. [00:43:06] Speaker A: And there are some newer versions of that medicine that are being studied in other dwarfisms as well as in achondroplasia. And there are some newer treatments of achondroplasia that are also being developed that target the main cause of the difference in the growth plate. That doesn't work. They're trying to make it better. [00:43:33] Speaker B: If you wanted, if somebody wanted to be taller, could they do growth hormone or does the body have a shut off time thing that says, nope, this is as tall as you get? We're not going to do that? [00:43:46] Speaker A: Yeah. So growth hormone in children with achondroplasia doesn't do very much. And it's not because they already have growth hormone. It's because their growth plate can't listen to it very well because of the problem. And the growth plate, the other challenge is that once you're done growing, when you get through puberty, your growth plates actually close. [00:44:08] Speaker B: Oh. [00:44:08] Speaker A: And so there's no way to get taller after puberty, except for some very controversial surgeries. And so there are some surgeries that can make the legs or the arms longer. They can be done in children or they can be done in adults, but those aren't done very often. [00:44:29] Speaker B: I just read about one not too long ago and it sounded extremely painful. [00:44:33] Speaker A: And I think it is a lot to go through. I know that it's a controversial surgery in achondroplasia. Different parts of the world, it's a very common surgery. For individuals with achondroplasia in the US it's less common. I think it's important to recognize that specifically achondroplasia, as I mentioned, they feel that this is just who they are and that it's not. There's nothing abnormal about them. It's part of their identity. And our goal with treatments is not to make them taller, to make them more like the general population. It's trying to help them reduce complications in the long term. The height is a positive side effect, but it's really the goal is to try and reduce any long term problems. [00:45:21] Speaker B: So you told me that you treat kids pretty much from babies or ground 0 to 22, 23 years old, but you don't really treat adults. [00:45:35] Speaker A: Correct. [00:45:36] Speaker B: What happens there? There's. You said there's differences in medical problems. [00:45:43] Speaker A: Yeah. So essentially I was trained as a pediatrician, which means a kid's doctor. Usually that ends up being 18. When kids graduate high school, sometimes we'll follow people until their early 20s, maybe 25. But the challenges after that is I don't trust, treat high blood pressure. I don't treat heart disease that people get as they get older, heart attacks, those kinds of complications. And so that's why they should be then taken care of by their primary care provider or a specialist, like a geneticist. People who are geneticists take care of patients their whole lives. Many people, if they're having bone problems, need to see a bone doctor, the orthopedist, you know. So in those situations, it's having a regular visit with their primary care doctor and only seeing the specialists that they need. [00:46:45] Speaker B: Dr. Miller, I'm curious to know if do people who get, who have dwarfism, do they have, you know, there are some disabilities that have genes that may express a higher percentage or higher risk of certain cancers. Do they have any of those genes that would predispose them to a high risk of cancer? [00:47:12] Speaker A: Yeah. So achondro, achondroplasia, specifically. The answer is no. But there are definitely forms of dwarfism that are caused by a genetic difference that predisposes them to cancer. Fanconi anemia is. Is a condition that causes dwarfism and has a cancer predisposition bloom syndrome. And these are both DNA breakage syndromes or DNA repair syndromes, where the predisposition to cancer is because of the problem that the DNA doesn't repair itself. Well, but that DNA repair problem also causes growth issues. But interestingly, there's a form of dwarfism called Laron syndrome. L, A, R, O, N. And that's a problem where they can't listen to growth hormone. Their body makes lots of growth hormone, but the receptor for growth hormone doesn't work. And they've actually been shown to have lower rates of cancer than the general population. [00:48:12] Speaker B: And what is their growth like then? [00:48:14] Speaker A: Their growth is really, really small. So they're even smaller than the average person with achondroplasia. And there is a treatment that a different kind of hormone, like growth hormone, that can help them grow, but it's pretty rare. And the growth treatment that they receive helps them get taller, but it doesn't bring them up into the average range just because they're so, so severely affected. [00:48:40] Speaker B: Wow. Okay, so are there any other medical things that are coming to the horizon that you want to discuss? [00:48:49] Speaker A: Yeah, so just briefly, there are conditions that cause dwarfism where. Where treatments can improve the problem with gene therapy. So gene therapy, if you have a genetic condition, is basically introducing a fixed gene into the system. So Hurler syndrome or other mucopolysaccharidosis is currently treated by bone marrow transplant because it causes not just growth problems, but many other problems. And gene therapy is currently being studied in that condition. But there are several other conditions that can affect growth that are a single gene problem. And if you can fix the gene early, you can actually fix the growth too. But so those are. Some of them are currently in development, some of them are already approved, but we don't have the long term information to say how well they work yet because they're pretty new. [00:49:53] Speaker B: Is there much like, you know, kind of research stuff that people can be involved with who have dwarfism? [00:50:00] Speaker A: There definitely are. And so the different clinical trials for new therapies for specific kinds of dwarfism. There are definitely opportunities for the. That for patients to be involved in that. [00:50:17] Speaker B: So any. Any advice to parents who just maybe had a child who was diagnosed with dwarfism or they know they're going to or something like that? [00:50:27] Speaker A: No, I think that's really important. Again, it'll be specific to the kind of dwarfism. There are a couple of different foundations that I recommend. Magic foundation is a group of parents that have children with different kinds of growth disorders, some of which include dwarfism, including achondroplasia. Little People of America is a great organization for families to learn more about specifically achondroplasia, but also multiple different other forms of dwarfism. So I think the. Those are two great places to start. And then their go ahead. I apologize. Their geneticists, whoever helped them identify what kind of dwarfism can really help connect them with resources about their condition. [00:51:19] Speaker B: And any advice to any young people going through dwarfism right now that you want to give out? [00:51:26] Speaker A: Yeah, so I think it's important to, you know, investigate what options are out there to help treatment, to prevent problems that could happen later in life, but also to be you and to, you know, make friends, be yourself. And that's the best advice we can give to anybody. [00:51:52] Speaker B: Right. Well, I want to thank you so very much for coming on. I really appreciate your time and, and, you know, this is how this show works for people like you that are willing to volunteer. So thank you very much. [00:52:04] Speaker A: Thank you very much. It's the first time I've done this, but I'm happy to do it and talk about things that I take care of all the time. [00:52:13] Speaker B: You did awesome. Thank you. [00:52:14] Speaker A: Thank you. [00:52:16] Speaker B: This has been Disability and Progress. The views expressed on this show are not necessarily those of KFAI or its board of directors. My name is Sam. I'm the host of the show. Charlene Dahl is my research person. Feel better soon. Charlene. Erin is my podcaster. This is KFAI 90.3 FM, Minneapolis, and KFAI.org and if you want to be a part of us, you can donate or you can suggest topics for the show and please email me at disabilityandprogressamjasmin.com Fresh fruit is up next. Thanks for joining in and. And thanks for listening.