Designed with the patient in mind, the Great HeighTS Turner Syndrome Clinic at Children’s Mercy Kansas City is a one-day clinic where patients can see multiple specialists in one, convenient location.
Not only does this minimize the number of medical visits for families, but it also gives the girls with this rare disease, and their parents, an opportunity to meet and interact with others who are going through the same situations they are.
Joe Cernich, MD, a Pediatric Endocrinologist at Children’s Mercy Kansas City, is here to discuss Turner Syndrome.
Selected Podcast
Turner Syndrome: Taking Care to Great HeighTS
Featured Speaker:
Learn more about Joe Cernich, MD
Joe Cernich, MD
Joe Cernich, MD is a Pediatric Endocrinologist at Children’s Mercy Kansas City and the medical director of the Great HeighTS Clinic for girls with Turner Syndrome. He serves on the Turner Syndrome Society of the United States Professional Advisory Board and is also the Medical Director for the Kansas City chapter of the Turner Syndrome Society. In addition to his interest in Turner Syndrome, Dr. Cernich is the Director of the Pediatric Endocrinology Fellowship Program at Children’s Mercy.Learn more about Joe Cernich, MD
Transcription:
Turner Syndrome: Taking Care to Great HeighTS
Dr. Michael Smith (Host): So, welcome to Transformational Pediatrics. I’m Dr. Michael Smith and our topic is “Turner Syndrome, Taking Care to Great Heights.” My guest is Dr. Joe Cernich. Dr. Cernich is the Director of the Pediatric Endocrinology Fellowship Program, Assistant Professor of Pediatrics at University of Missouri Kansas City School of Medicine. He’s also the Medical Director of the Great Heights Clinic for Girls with Turner Syndrome. Dr. Cernich, welcome to the show.
Dr. Joe Cernich (Guest): Thank you. It’s my pleasure being here.
Dr. Smith: How common is Turner Syndrome?
Dr. Cernich: It’s found in roughly one in 2000 girls, and it’s not in girls only. Part of it depends on how close you look. Studies that look at every child born and every girl that’s born will find that its prevalence is much higher than recently thought. So, currently it’s thought that about one in 2000 girls will have Turner Syndrome.
Dr. Smith: You mentioned that obviously it does happen in boys. What would be the situation where you would see a boy with Turner Syndrome?
Dr. Cernich: Well, it does not happen in boys. All the fetuses that are missing part of the X chromosome are phenotypically female. So, there are occasions where some of the girls have portions of a Y chromosome but it happens early enough in pregnancy that there is no development of male genitalia.
Dr. Smith: Have researchers determined which genes on the X chromosome are associated with the features of Turner Syndrome?
Dr. Cernich: Sure, although it’s still being elucidated, there is much more known about growth than, say, ovarian genes. We do know that the genes that are affiliated with this are found in the two ends of the chromosome which is called the “pseudoautosomal region” where it’s important to have two copies of those genes. There are other genes on the X chromosome that the body will silence in the girls because it will have two X chromosomes and the body only wants one copy. There are, though, some genes that the body wants two copies of and they are found in the pseudoautosomal region. So, that’s where researchers are looking. We know, for example, that there is a gene called the “SHOX gene” that is usually found on all X chromosomes and Y chromosomes, for that matter, that does affect growth and bone development. So, these girls that are missing one of their SHOX genes end up significantly shorter as a result. We do also know that there are multiple genes associated with ovarian development on the X chromosome as well that are affected.
Dr. Smith: So, with it being so relatively rare, though, where do most patients go for care?
Dr. Cernich: That is a big questions and that’s one that we are trying to solve here at Children’s Mercy. So, it’s uncommon enough that most of the families and girls that have it rarely meet someone else that has Turner Syndrome by chance. That’s one of the things in our design of the clinic that we wanted to change. We wanted to bring the families and girls together. Not just to meet with the doctor but to meet with other girls and families that are affected by it so they can see that they’re not the only ones struggling with what they are struggling with. In a nationwide perspective, though, there is now a Turner Resource Network, of which I’m a part of, that’s designed to try to promote care nationally and to help centers that well excel in Turner Syndrome care develop so that they are geographically closer to the patients and may not have to travel as far but that we’d also be increasing the quality of care and the consistency of care that these girls receive.
Dr. Smith: So, what makes the treatment approach at Children’s Mercy unique or different?
Dr. Cernich: Well, our whole clinic design is different than what most people will find. Instead of these patients being scattered amongst our clinic schedule, we have one day every four months, so three times a year, where our clinic is essentially closed to any patients except those that have Turner Syndrome. We will bring in roughly 50 girls that have Turner Syndrome that day and they will receive multi-disciplinary care and also some chances to interact with each other. The multi-disciplinary care approach is not unique. There are several centers that do that. What makes ours unique is that it’s all done on the Great Heights Turner Syndrome Clinic Day. That allows us to have all the patients there and we can set up and coordinate their care amongst different sub-specialists such as cardiologists or developmental pediatricians – whoever they need to see that day. It’s a long day and they may have multiple doctor visits or do other studies or tests but we also have other activities for them to partake in where they can interact with each other. Also we will have a “lunch and learn” for them. So, over the noon hour, we provide some food to the families and have either a local speaker or a national speaker come to address some topic that will be helpful for the families to learn about.
Dr. Smith: How have the families responded to the Great Heights Clinic? Has this been very positive?
Dr. Cernich: Yes. I, quite frankly, have been surprised at how positive it is. When we started it in 2010, I had no idea that it would reach anywhere besides the Kansas City Metro area. Now, we are taking care of patients from six different states, basically, by word of mouth from the families discussing it with each other on internet forums, etc. It’s been much more well-received than I ever imagined. I think we provide high quality care but I think the part that really sets it apart is that it becomes an event for the families. It’s an event for the girls to see each other, to interact with each other and to socialize and be around other families and girls that are going through the same struggles.
Dr. Smith: Dr. Cernich, is it the goal of the Turner Research Network to have more of these types of clinics, these one-day clinic visits? Is that really the goal, that network to try to spread this around the country?
Dr. Cernich: Well, it’s a model and we’ve had physicians from around the country that are interested in Turner Syndrome come see our model with the hope of bringing some parts of it back to their institution. Quite frankly, it’s going to be difficult for some people because there may be space limitations or their limitations to what their administration will support. The bottom line is that I’ve had an incredible amount of support from the administration here, both within my division of endocrinology on running this clinic. So, this exact model may or may not be replicated by a lot of places but they may have some resource limitations that we don’t have to deal with.
Dr. Smith: With this type of one-day when they come in, it sounds like the patient and the family they’re going to be there pretty much all day long but it’s cutting back on having to come back to another doctor on a different day. So, it seems like this makes a lot of sense and I can see how you are getting the positive results and responses that you’re getting. One last question for you, Dr. Cernich, since you are the expert, what is the future treatment of Turner Syndrome? Are we looking at gene therapies, chromosomal therapies? Where do you see Turner treatment going down in the future?
Dr. Cernich: I think that’s a long way off and, ultimately, our hope is that if we know that there are genes that are missing that can lead to these health issues, that down the line those genes could be replaced and that way these girls wouldn’t have to deal with the health issues they have lifelong. The biggest of which, most of them don’t go through puberty and only a handful will ever be able to become pregnant. That really is what weights on them long term. It would be nice if we could have genetic therapy to do that. The issue is going to be is that this isn’t one gene that is affected, it’s many genes on this chromosome that are missing. So, we are really talking about, in some cases, maybe replacing an entire chromosome as opposed to one genetic mutation in one gene. That’s going to be very, very difficult. So, for the time being we’re stuck with looking at each individual health issue that they have and how we can best treat that.
Dr. Smith: Dr. Cernich, thank you so much for coming on. I appreciate the work that you’re doing. You’re listening to Transformational Pediatrics with Children’s Mercy Kansas City. For more information you can go to childrensmercy.org. That’s childrensmercy.org. I’m Dr. Michael Smith. Have a great day.
Turner Syndrome: Taking Care to Great HeighTS
Dr. Michael Smith (Host): So, welcome to Transformational Pediatrics. I’m Dr. Michael Smith and our topic is “Turner Syndrome, Taking Care to Great Heights.” My guest is Dr. Joe Cernich. Dr. Cernich is the Director of the Pediatric Endocrinology Fellowship Program, Assistant Professor of Pediatrics at University of Missouri Kansas City School of Medicine. He’s also the Medical Director of the Great Heights Clinic for Girls with Turner Syndrome. Dr. Cernich, welcome to the show.
Dr. Joe Cernich (Guest): Thank you. It’s my pleasure being here.
Dr. Smith: How common is Turner Syndrome?
Dr. Cernich: It’s found in roughly one in 2000 girls, and it’s not in girls only. Part of it depends on how close you look. Studies that look at every child born and every girl that’s born will find that its prevalence is much higher than recently thought. So, currently it’s thought that about one in 2000 girls will have Turner Syndrome.
Dr. Smith: You mentioned that obviously it does happen in boys. What would be the situation where you would see a boy with Turner Syndrome?
Dr. Cernich: Well, it does not happen in boys. All the fetuses that are missing part of the X chromosome are phenotypically female. So, there are occasions where some of the girls have portions of a Y chromosome but it happens early enough in pregnancy that there is no development of male genitalia.
Dr. Smith: Have researchers determined which genes on the X chromosome are associated with the features of Turner Syndrome?
Dr. Cernich: Sure, although it’s still being elucidated, there is much more known about growth than, say, ovarian genes. We do know that the genes that are affiliated with this are found in the two ends of the chromosome which is called the “pseudoautosomal region” where it’s important to have two copies of those genes. There are other genes on the X chromosome that the body will silence in the girls because it will have two X chromosomes and the body only wants one copy. There are, though, some genes that the body wants two copies of and they are found in the pseudoautosomal region. So, that’s where researchers are looking. We know, for example, that there is a gene called the “SHOX gene” that is usually found on all X chromosomes and Y chromosomes, for that matter, that does affect growth and bone development. So, these girls that are missing one of their SHOX genes end up significantly shorter as a result. We do also know that there are multiple genes associated with ovarian development on the X chromosome as well that are affected.
Dr. Smith: So, with it being so relatively rare, though, where do most patients go for care?
Dr. Cernich: That is a big questions and that’s one that we are trying to solve here at Children’s Mercy. So, it’s uncommon enough that most of the families and girls that have it rarely meet someone else that has Turner Syndrome by chance. That’s one of the things in our design of the clinic that we wanted to change. We wanted to bring the families and girls together. Not just to meet with the doctor but to meet with other girls and families that are affected by it so they can see that they’re not the only ones struggling with what they are struggling with. In a nationwide perspective, though, there is now a Turner Resource Network, of which I’m a part of, that’s designed to try to promote care nationally and to help centers that well excel in Turner Syndrome care develop so that they are geographically closer to the patients and may not have to travel as far but that we’d also be increasing the quality of care and the consistency of care that these girls receive.
Dr. Smith: So, what makes the treatment approach at Children’s Mercy unique or different?
Dr. Cernich: Well, our whole clinic design is different than what most people will find. Instead of these patients being scattered amongst our clinic schedule, we have one day every four months, so three times a year, where our clinic is essentially closed to any patients except those that have Turner Syndrome. We will bring in roughly 50 girls that have Turner Syndrome that day and they will receive multi-disciplinary care and also some chances to interact with each other. The multi-disciplinary care approach is not unique. There are several centers that do that. What makes ours unique is that it’s all done on the Great Heights Turner Syndrome Clinic Day. That allows us to have all the patients there and we can set up and coordinate their care amongst different sub-specialists such as cardiologists or developmental pediatricians – whoever they need to see that day. It’s a long day and they may have multiple doctor visits or do other studies or tests but we also have other activities for them to partake in where they can interact with each other. Also we will have a “lunch and learn” for them. So, over the noon hour, we provide some food to the families and have either a local speaker or a national speaker come to address some topic that will be helpful for the families to learn about.
Dr. Smith: How have the families responded to the Great Heights Clinic? Has this been very positive?
Dr. Cernich: Yes. I, quite frankly, have been surprised at how positive it is. When we started it in 2010, I had no idea that it would reach anywhere besides the Kansas City Metro area. Now, we are taking care of patients from six different states, basically, by word of mouth from the families discussing it with each other on internet forums, etc. It’s been much more well-received than I ever imagined. I think we provide high quality care but I think the part that really sets it apart is that it becomes an event for the families. It’s an event for the girls to see each other, to interact with each other and to socialize and be around other families and girls that are going through the same struggles.
Dr. Smith: Dr. Cernich, is it the goal of the Turner Research Network to have more of these types of clinics, these one-day clinic visits? Is that really the goal, that network to try to spread this around the country?
Dr. Cernich: Well, it’s a model and we’ve had physicians from around the country that are interested in Turner Syndrome come see our model with the hope of bringing some parts of it back to their institution. Quite frankly, it’s going to be difficult for some people because there may be space limitations or their limitations to what their administration will support. The bottom line is that I’ve had an incredible amount of support from the administration here, both within my division of endocrinology on running this clinic. So, this exact model may or may not be replicated by a lot of places but they may have some resource limitations that we don’t have to deal with.
Dr. Smith: With this type of one-day when they come in, it sounds like the patient and the family they’re going to be there pretty much all day long but it’s cutting back on having to come back to another doctor on a different day. So, it seems like this makes a lot of sense and I can see how you are getting the positive results and responses that you’re getting. One last question for you, Dr. Cernich, since you are the expert, what is the future treatment of Turner Syndrome? Are we looking at gene therapies, chromosomal therapies? Where do you see Turner treatment going down in the future?
Dr. Cernich: I think that’s a long way off and, ultimately, our hope is that if we know that there are genes that are missing that can lead to these health issues, that down the line those genes could be replaced and that way these girls wouldn’t have to deal with the health issues they have lifelong. The biggest of which, most of them don’t go through puberty and only a handful will ever be able to become pregnant. That really is what weights on them long term. It would be nice if we could have genetic therapy to do that. The issue is going to be is that this isn’t one gene that is affected, it’s many genes on this chromosome that are missing. So, we are really talking about, in some cases, maybe replacing an entire chromosome as opposed to one genetic mutation in one gene. That’s going to be very, very difficult. So, for the time being we’re stuck with looking at each individual health issue that they have and how we can best treat that.
Dr. Smith: Dr. Cernich, thank you so much for coming on. I appreciate the work that you’re doing. You’re listening to Transformational Pediatrics with Children’s Mercy Kansas City. For more information you can go to childrensmercy.org. That’s childrensmercy.org. I’m Dr. Michael Smith. Have a great day.