All About 22q – PediaCast 226
Join Dr Mike for a comprehensive look at the 22q11.2 Deletion Syndrome. Dr Richard Kirschner and Dr Adriane Baylis join us to discuss the nuts and bolts of this common disorder. We’ll also tell you about the upcoming Healthy You and 22q Conference; and Ryan Dempster, starting pitcher for the Texas Rangers, swings by to talk about the Dempster Family Foundation and the 22q Mystery Bus Tour!
- 22q11.2 Deletion Syndrome
- A Healthy You and 22q Conference
- Dempster Family Foundation
- 22q Mystery Bus Tour
- Michelle Breedlove-Sells
Director of Development and Medical Outreach
Dempster Family Foundation
- Dr Richard Kirschner
Chief, Plastic and Reconstructive Surgery
Co-Director, 22q Center
Nationwide Children’s Hospital
- 22q Center at Nationwide Children’s Hospital
- A Healthy You and 22q Conference
- 22q Center Facebook Page
- Dempster Family Foundation
- 22q Mystery Tour Bus Campaign
- The International 22q11.2 Foundation (22q.org)
Announcer 1: This is PediaCast.
Announcer 2: Welcome to PediaCast, a pediatric podcast for parents. And now, direct from the campus of Nationwide Children’s, here is your host, Dr. Mike!
Dr. Mike Patrick: Hello, everyone and welcome once again to PediaCast, a pediatric podcast for moms and dads. This is Dr. Mike coming to you from the campus of Nationwide Children’s Hospital. I’d like to welcome everyone to the program. It’s episode 226 for September 12th 2012, all about 22q.
So we have a pretty comprehensive show for you today, all about 22q, it’s a good description because we’re going to talk all about 22q. We have a conference coming up here on the campus of Nationwide Children’s. It’s primarily aimed at parents and caregivers. The conference is called A Healthy You and 22q and it’s coming to the campus of Nationwide Children’s on September 22nd 2012.
It’s a short time away but there’s still time for you to get signed up. We’ve talked about this conference quite a number of times here on the program and we’ll have all the details coming for you one more time a little bit later on in the show. We also have a link for you to the registration page in the Show Notes over at pediacast.org. So we’re going to make it really easy for you. If you are in Central Ohio or you’re planning on being in Central Ohio around September 22nd and you have 22q in the family then you definitely want to take advantage of this and we’ll make it really easy for you to sign up by using the registration page and again we’ll have a link for you at pediacast.org.
So, what is 22q? Well, a few episodes back, I nutshelled the disorder for you because we were talking about the conference and I figured most of you probably had not heard of 22q before, which is kind of unfortunate because it’s actually quite common depending on the numbers you look at about 1 in 2,000 or about 1 in 4,000 people are affected by 22q. So it’s an important disorder to know about.
And today and in conjunction with our upcoming conference, we’re going to do more than a quick nutshelling. We’re going to dive in and talk about the who, what, when, where, why and how of 22q. And to help me do that we have several guests today, both in the studio and on the Skype line. Our Healthy You and 22q Conference is co-sponsored by the Dempster Family Foundation and Michelle Breedlove-Sells, the director of Development and Medical Outreach for the foundation will be here to talk about the 22q Mystery Bus Tour campaign, which is a pretty cool deal.
Mystery Bus Tour, if it makes you think about Scooby-Doo, the mystery bus, I know it’s the mystery machine, but it’s close and when I heard it it definitely reminded me of Scooby-Doo; or maybe the Beatles’ Magical Mystery Tour or maybe a combination of Scooby-Doo and the Beatles. So, it’s the 22q Mystery Bus Tour campaign and Michelle is going to be stopping by on the Skype line to tell us all about that.
And this is also really exciting. Ryan Dempster is also going to join us today. He is a starting pitcher with the Texas Rangers of Major League Baseball fame. Ryan is also the founder of the Dempster Family Foundation and he’s going to stop by to let us know why he started the foundation and what roles it play in helping the families dealing with 22q.
We also have a couple stellar in studio guests joining me to talk about 22q today, Dr. Richard Kirschner, MD and Dr. Adriane Baylis, PhD, they are both co-directors of the 22q Center here at Nationwide Children’s Hospital. But very quickly and as a reminder before we get started , if there’s a topic that you’d like us to talk about or you have a question for the program, it’s easy to get a hold of me, just head over to pediacast.org and click on the Contact link. You can also email email@example.com or call the voice line at 347-404-KIDS. That’s 347-404-K-I-D-S.
All right. Before we turn our attention to our studio guests and get into the knots and bolts of 22q, I’m going to hop on the Skype line where we have Michelle Breedlove-Sells waiting for us. Michelle is the director of Development and Medical Outreach with the Dempster Family Foundation. And as I mentioned before, the Dempster Family Foundation is an organization started by Texas Ranger pitcher, Ryan Dempster. It’s aimed in improving awareness, encouraging research and supporting families with children affected by 22q. Ryan plans to join us a bit later in the program to talk about why he started the Dempster Family Foundation, but Michelle is on the line now to talk about what are the ways the foundation is raising awareness about 22q and that’s what the 2012 22q Mystery Tour Bus campaign. So, welcome to PediaCast, Michelle.
Michelle Breedlove-Sells: Good morning! It’s nice to be here. Thank you.
Dr. Mike Patrick: Hey! I really appreciate you stopping by. So what exactly is the 22q Mystery Tour Bus campaign? When that rolls off my tongue I think of Scooby-Doo.
Michelle Breedlove-Sells: That’s great. That’s pretty much what it looks like. We get asked all the time if Shaggy or Scooby is on the bus.
Dr. Mike Patrick: Yeah.
Michelle Breedlove-Sells: The bus was designed actually in a very mystery machine-esque vibe about it. We learned a lot. We started this tour in 2011 and it was very brief. Last year, we did a summer tour for two weeks. We rented an RV, we wrapped it and we have a lot of information about 22q on the bus and we had pictures of Ryan Dempster and we learned a lot last year. Our bus last year was very obvious that it was (a) a charity, and (b) associated with the baseball player. And so we didn’t get approached very much because maybe we included too much information on the bus.
Dr. Mike Patrick: Yeah.
Michelle Breedlove-Sells: So this year, what we did was we wrapped it very much like the mystery machine from Scooby-Doo and we were a little bit more vague. It says the 22q Mystery Tour, it gives the www.22qbus.com website. And inevitably because the bus is so loud and so obnoxious, people everywhere we stop, whether it’s a gas station or a rest stop or a camp ground, anywhere we go people ask us what is 22q which was in essence what we wanted to garner from a mobile tour taking the long way from point A to point B.
When I go to a conference or when I go to a support group or a rally for 22q or an awareness event or a fund raiser, rather than hopping to an airplane and spending $500, we spend $300 in fuel and get asked all the way from Dallas to wherever we’re headed what is that, which gives the opportunity to tell people a little bit about 22q. We give them information and we ask people to do videos for us that do ask us and so we have videos from truck drivers, bikers, families on vacation saying we’re on the bus for kids with 22q. We keep adding those to the video loop on our YouTube channel which is 22qbus.
Dr. Mike Patrick: Oh! That is fantastic and I think what interests me is just this whole concept of sort of wrapping and there’s a mystery. It really gets people’s attention and they want to know what this mystery is all about.
Michelle Breedlove-Sells: Well, not just it. One of the things I struggled with, with regards to an awareness campaign, is 22q is (a) it doesn’t roll off the tongue very easily; (b) it’s not very easy to explain. And so what I separately have is a billboard that moves at 65 miles an hour. So I could never explain 22q on the side of a bus. So I need to engage people such that they’re inclined to speak with us or ask us what it is. And it’s working spectacularly well.
We can’t park anywhere and sneak out of the bus in our PJs or with messy hair in the morning because everywhere we are people, in fact there’s somebody in front of the bus right now working on an electric line and we had three electric line workers standing outside the bus this morning wanting to know what it was all about and they did videos for us and they said we got on the website last night. So it’s working very, very well.
It’s also really beneficial. One of the things that’s been important to the organization is that we have really tried to engage the families that are out there. You hear time and time again the physicians in their area don’t know what this is or the teachers don’t know how to best educate their children. And we keep asking the question – well, if they don’t know what it is, where you are, what are you doing about that? Because this is a collaborative effort.
Ryan Dempster’s not going to be able to go to every town in America nor am I nor is the bus. But we want to inspire families to do something, whether it’s a local balloon release like Ashley Hamby in Owensboro, Kentucky where we were on Saturday this week to grew her hope for 22q Awareness Balloon Release from 100 people last year to over 350 people this year.
So this bus is an extension of Ryan Dempster who can’t go unfortunately to their Hope Floats Balloon Release because he’s playing baseball, but this bus gives the opportunity to reach out to the media and say, this extension of Ryan Dempster is coming to your little town in the middle of Kentucky. And we’d really like for the media to come out and meet us and cover this spectacular effort here right in their own backyard. And so many times the media is more inclined to come out because there’s an extension of a professional baseball player there versus just a mom or just me. Nobody asks for my autograph and nobody asks for Ashley Hamby’s autograph, but it really lends a little bit of exposure to the events that parents are planning all around the country and we hope that it will inspire other parents to do the same. And we get those questions everyday online – when are coming to New York? And what we say is are you planning a 22q awareness event?
Dr. Mike Patrick: Yeah. We’re planning one.
Michelle Breedlove-Sells: We’ll be there.
Dr. Mike Patrick: Yeah. Right. That’s September 22nd, the Healthy You and 22q Conference. So if folks here in Central Ohio want to step out and see the 22q Mystery Tour Bus you will be there.
Michelle Breedlove-Sells: We will indeed. We will indeed.
Dr. Mike Patrick: What other cities are on your agenda?
Michelle Breedlove-Sells: Well, we’re actually stopping today in Elkhart, Indiana to go to the manufacturing plant where the bus was made to hopefully inspire some sort of sponsorship there, so keep your fingers crossed.
Dr. Mike Patrick: Sure.
Michelle Breedlove-Sells: Then this weekend for Labor Day we are going to the Arts Beats and Eats Festival which is in Royal Oak, Michigan, a suburb of Detroit. There are 400,000 people that generally attend this festival.
Dr. Mike Patrick: Wow!
Michelle Breedlove-Sells: So this will be to date our largest opportunity to expose 22q, the Mystery Bus and the organization to a crowd that large. So we’re very, very curious about how the festival will work and how many people we’ll have the opportunity to see while we’re there.
Dr. Mike Patrick: Yeah.
Michelle Breedlove-Sells: Then after that, the following Friday we’ll be in Lincoln, Nebraska. There are some families there and a small support group headed by Anne Stalker called Mission 22q. They do an annual wine tasting there but we’ve never had the opportunity to go to as of yet but we will be rolling into town on Friday night to attend that. Then we have the conference there at Nationwide on September 22nd and that will be the end of the summer tour.
The beginning of the fall tour starts in October where we will be going to Stillwater, Oklahoma, which is my hometown, to attend the homecoming events for Oklahoma state and we’ll be in the parade there. We’re not entirely sure where were going after that. We’re working out the fall schedule as we speak.
Dr. Mike Patrick: Great. So it could literally be anywhere?
Michelle Breedlove-Sells: It could absolutely be anywhere. We try to schedule the tour such that we can hit at least two to three events in a five to seven-day period.
Dr. Mike Patrick: Great.
Michelle Breedlove-Sells: So, I encourage anybody who hears this and has an interest in inviting the bus somewhere to join them to get on the www.22qbus.com website, look at the tour dates that we already have scheduled and if you haven’t scheduled a date for your event yet try and schedule in and around something that’s already scheduled in your region.
Dr. Mike Patrick: That’s right.
Michelle Breedlove-Sells: That makes it a lot easier for us. Obviously we can’t go from San Diego to New York in three days.
Dr. Mike Patrick: Yeah. So this is definitely a possibility if you’re going to be in an area or if someone looks at the schedule and says, hey, they’re at point A on this day and then a week they’re at point B and we’re halfway in between, then they should definitely give you guys a holler.
Michelle Breedlove-Sells: 110% yeah.
Dr. Mike Patrick: And folks out there, if you see something that looks like a giant mystery machine in bus form, you definitely want to check it out because there are lots of great educational and fun information.
Michelle Breedlove-Sells: Well, I very much appreciate you having us on the program today. I encourage anybody listening to go visit 22qbus.com website, look at some of the facts. If you haven’t already, please send us a video saying who you are, where you’re from or who you want to know where you work and that you’re on the bus for 22q and email it to firstname.lastname@example.org.
Dr. Mike Patrick: Beautiful. We really appreciate you joining us from the Dempster Family Foundation.
Michelle Breedlove-Sells: It’s my pleasure. Thank you for having me.
Dr. Mike Patrick: Yeah. So we’re going to take a quick break and we will be back with Dr. Richard Kirschner, MD and Dr. Adriane Baylis, PhD, to get into the nitty-gritty of 22q. And then after that, Ryan Dempster will hop on the Skype line and tell us more about his family foundation. It’s all happening right after this.
All right. We are back and just in time to introduce you to our studio guests today. Dr. Richard Kirschner is the chief of Plastic and Reconstructive Surgery and a co-director of the 22q Center here at Nationwide Children’s Hospital. He’s also a professor of plastic surgery at the Ohio State University College of Medicine. Dr. Kirschner heads up our Cleft Lip and Palate Center and he’s no stranger to PediaCast having stopped by the studio to talk about cleft lip and palate back in episode 174. So it’s with a warm welcome back that we say hi to Dr. Kirschner.
Dr. Richard Kirschner: Thanks Mike. Pleasure to be back here again.
Dr. Mike Patrick: Great. We really appreciate you stopping by. Let’s also welcome Dr. Adriane Baylis to the program. Dr. Baylis is a speech scientist, director of the Resonance Disorders Program and a co-director of the 22q Center at Nationwide Children’s Hospital. She’s also an assistant professor of plastic surgery, speech and hearing science and pediatrics at the Ohio State University College of Medicine. Dr. Baylis’ research focuses on the multifactorial nature of speech disorders and speech dysfunction associated with 22q11.2 deletion syndrome. So a warm welcome to you as well.
Dr. Adriane Baylis: Thanks Mike. Great to be here.
Dr. Mike Patrick: We really appreciate both of you taking time out of your busy schedules to stop by. Let’s start with you, Dr. Kirschner, if you could just kind of define for us briefly what is 22q and what are some of the other names of this disorder.
Dr. Richard Kirschner: Sure. Well, 22q deletion syndrome is one of the most common genetic disorders that we see in children and it’s caused by the absence of a very small piece of genetic material or DNA found on chromosome 22q or the short arm chromosome 22. The short arm of chromosome 22q is the q arm and because of that very small piece of DNA that’s missing it causes a very wide variety of physical, developmental and behavioral abnormalities and because of the very wide spectrum of disorders that are presented along with 22q.
It in the past has gone by a number of different names depending upon what the physical manifestations of the disease are. So in the past it’s gone by the name of DiGeorge syndrome or velo-cardio-facial syndrome or Shpintzen syndrome. But we now know with genetic testing that these disorders are all caused by the same small piece of genetic material missing on 22q.
Dr. Mike Patrick: It’s kind of interesting how our recognition of certain patterns of disease really predated our ability to figure things out on the genetic level, so we would see patterns of symptoms and not really know what caused them. We had a feeling it was inherited and that there was something in the genes but we didn’t know where and we’d labeled it with a name and now that we’re better at sequencing the DNA and can find out exactly where the problem is, now we can start to link some of these disorders together.
Dr. Richard Kirschner: Absolutely. This has been likened a little bit to the old fable of the Blind Man and the Elephant, so each was looking at their own piece of the elephant, had a different description of what an elephant was. And it’s the same with 22q. So in children in the past that presented with heart problems and immune problems, this was recognized as DiGeorge syndrome and then later on that group of children was recognize that had a particular facial appearance and also had abnormalities in their palate or their speech and this was referred to velo-cardio-facial syndrome. And then now we realize that they’re all really part of the same disorder caused by the same small piece of DNA that’s missing.
Dr. Mike Patrick: Yeah. And that must give parents a little bit more satisfaction at least in terms of understanding what it is that’s causing the problems that their child has rather than just this label and say we don’t know.
Dr. Richard Kirschner: Absolutely. And it makes their management much easier now that we know it’s all part of the spectrum or the same disorder.
Dr. Mike Patrick: So Dr. Baylis, how common is 22q?
Dr. Adriane Baylis: It’s a relatively common genetic disorder and it occurs in about 1 in every 4,000 live births. So when you think of syndromes like Down syndrome, which virtually everyone recognizes, 22q is right up there in terms of being a very common disorder. It is the second leading cause of congenital heart defects as well, but again doesn’t seem to get the same recognition yet, but awareness is growing.
Dr. Mike Patrick: Yeah. We’re working on it. Right. And I think that’s such a good point. Everyone’s heard of Down syndrome and this really is just about as common. What about boys versus girls, do we see it pretty equally among the sexes?
Dr. Adriane Baylis: Yes. I’m not aware of any information to support that it’s different in terms of occurrence in boys or girls and their severity is similar across either gender.
Dr. Mike Patrick: Yeah. And there’s also no race difference or preference in different ethnic groups. It’s pretty much seen across the board pretty equally?
Dr. Adriane Baylis: It is although it tends to be underdiagnosed in non-Caucasian populations and it’s probably just really the two-arm biases and who’s presenting in the clinic with different clusters of symptoms. There’s some limited information that suggest that we’re missing kids who are from, perhaps more very cultural backgrounds because we’re just somewhat sensitive to other facial features or different presentations.
Dr. Mike Patrick: Yeah. Dr. Kirschner, you’ve mentioned that it all goes back to there being a microdeletion on chromosome 22 on the q arm of that. What causes that microdeletion? Do we know?
Dr. Richard Kirschner: We don’t really know what causes it. It’s really just a mistake during the development of the embryo as those cells divide that small piece of DNA is missing. Not being a molecular geneticist, I’m probably missing something here in the analogy.
Dr. Mike Patrick: There’s probably a little bit more to it. I wonder if it’s more and this was a limitation of our show, we only have two microphones for guests and I know that Dr. Atkin…
Dr. Richard Kirschner: Yeah. Dr. Joan Atkin, MD.
Dr. Mike Patrick: She’s also part of the 22q Center and is more along the lines of the genetic aspect of it. So we may have to in the next year when we’re looking to talk about this topic again we may have to have her stop by and talk a little bit more about the genetics of it. So what signs and symptoms then are the most commonly associated with 22q? What do we see?
Dr. Richard Kirschner: Well, most of the children with 22q present with fairly significant heart abnormalities what we call conotruncal heart anomalies such as tetralogy of Fallot, but the interesting thing about 22q is what you’d said that the manifestations from the small piece of DNA that’s missing are very varied and so a number of children present without such cardiac anomalies. Many children present with palatal abnormalities, some present with cleft palate or what we call submucous cleft palate, which is more of a hidden cleft. But the overwhelming majority of children with 22q present with the palate that appears to be intact but that doesn’t function properly for speech and so they present later on with what we call velopharyngeal disproportion, which presents a speech that’s very hypernasal and difficult to understand.
But in reality, 22q can affect nearly every organ system in the body and has a variety of other manifestations including immune dysfunction, including growth disturbances and also a number of developmental abnormalities and psychiatric abnormalities.
Dr. Mike Patrick: Dr. Baylis, how do we go about diagnosing it?
Dr. Adriane Baylis: It’s diagnosed through a blood test and until 1992 we didn’t have a definitive test to detect the deletion but there was something called the FISH test that was developed, which stands for Fluorescence In Situ Hybridization. So that was really the first test that was used for many years until perhaps the past maybe five years or so where we started to use more and more microarray or different forms array analysis which are even more sensitive.
The FISH test picks up the basic 22q11.2 deletion in the majority of cases, but now microarray is more sensitive to picking up smaller deletions or atypical deletions or even now we’re finding children with duplications of that genetic region that may clinically look very similar to kids who have deletions of that region.
Dr. Mike Patrick: Sure. And I guess you really have to try to figure out who to do those blood tests on first, so I suspected it’s really important that primary care doctors and as we’re trying to raise awareness and families understand sort of what defects go along with 22q because if you don’t suspect it, you don’t test for it and so it’s important too.
Dr. Adriane Baylis: Yes. And I think, like you said, it’s important to be sensitive to the range of features and the range of severity of the syndrome. Most commonly, the children with cardiac defects are diagnosed at birth or shortly thereafter or children with severe immune dysfunction get diagnosed very early, but often we’re still seeing kids who are in their school age years or beyond that are presenting with speech delay, hypernasal speech, some learning difficulties and may or may not have much of a significant medical history and those are the ones that get missed that the pediatrician and the specialist should still be sensitive to the fact that this disorder should be considered.
Dr. Mike Patrick: Sure. To your knowledge and again this kind of goes back to the genetics part of it a little bit, does it run in the families? Is this something that’s like new mutation when it happens or can someone with 22q pass it on so that we see it in families?
Dr. Richard Kirschner: Because it is a genetic abnormality it can be passed on from mother or father to their child. Right now it appears about 90% of the cases of 22q deletion syndrome that we see are new mutations and about 10% of them are familial, meaning they’re passed on from the affected parent.
Dr. Mike Patrick: And it’d be autosomal dominant kind of transmission when we do see it.
Dr. Richard Kirschner: Right.
Dr. Mike Patrick: So then let’s say we have a kiddo who has 22q, we’ve diagnosed it, what does the management look like of that child?
Dr. Richard Kirschner: So this is one of the areas where parents are very, very frustrated when they come to see us because of the very wide range of physical and developmental manifestations. It’s difficult for parents to find a team of specialists that understands all of these manifestations and can work together in a coordinated fashion. And so really as soon as the diagnosis is made, because we know that early intervention is so important for so many of these abnormalities, it’s important that these children be evaluated by a comprehensive multidisciplinary team of specialists. Each of whom understand not only their area of how 22q affects that particular area but how the others are affected as well and they interplay with one another. And so we approach it here at Nationwide Children’s as an interdisciplinary team that provides coordinated comprehensive care with the team of specialists that specialized in their area associated with 22q
Dr. Mike Patrick: And since we see such a wide variety of expressions of 22q depending on what exactly was involved with the microdeletion, then the treatment or management really has to be individualized for each specific child.
Dr. Richard Kirschner: Right. And that’s the thing that we found with 22q is that every child with 22q presents with unique challenges. No two 22q patients are the same. And so it’s important that each child really receives an individualized assessment and treatment plan.
Dr. Mike Patrick: Sure. What’s the role, Dr. Baylis, of speech and language therapy in kids with 22q?
Dr. Adriane Baylis: Well, speech and language delay or various speech disorders are probably one of the most common presenting features of the syndrome. Approximately 90-95% of children with 22q will have a delay in speech or language or some type of difficulty throughout their school age or adolescent years. That can range from anything to delayed onset of first words and ability to combine sentences to express themselves to comprehension problems, to difficulties producing their speech sounds and then hypernasal speech related to palate dysfunction.
So we see some children that have virtually all of those types of communication orders to some that might just have problems with let’s say social interaction skills and higher level language. So it really again depends on the individual patient. In the youngest children we see early intervention playing a big role. So speech and language therapy being involved from the onset as soon as the diagnosis is made.
We work closely with community agencies such as Help Me Grow or Birth to Three and private speech therapy practices to help get our children connected with clinicians who can continue to stimulate their language skills, get their verbal output and expression moving and then help them develop normal articulation skills. Once they get into the late preschool and early school age years, that’s often when we work together with our surgical colleagues such as Dr. Kirschner to develop a treatment plan for any signs of palate dysfunction and that would be the most typical age that we would work together to address those types of speech needs. It’s around four to six years of age in most cases although sometimes it’s later than that.
Dr. Mike Patrick: Sure.
Dr. Adriane Baylis: Then the progression tends to be that articulation does tend to get better for most of these children. The language difficulty such as their grammar skills, ability to hold consistent conversations with their peers, things like eye contact and social skills might still be a struggle, so we see a shift in the focus of therapies to more of those pragmatic issues. And those may persist into the teenage years or beyond.
Dr. Mike Patrick: Obviously you see teenagers, but if there are issues with speech and language that persist into adulthood, do you still work with adults as well in our center or do they have to transition to an adult program at that point?
Dr. Adriane Baylis: There really are no designated adult programs in the U.S. for 22q and we certainly can see adults who have a diagnosis of 22q that have any specific needs that our specialists would be able to address such as hypernasal speech, for example.
Dr. Mike Patrick: Sure. Speaking of kind of into adulthood, what is the long-term outlook for folks with 22? Is this something that generally people can live with for a long time? Or I guess it depends on the severity of their illness.
Dr. Richard Kirschner: Exactly. Again, every child is affected differently and so every adult is affected differently as well. And so we have some patients with 22q that raise families, some go to college and we have others that are much more limited in their ability to function that way.
Dr. Mike Patrick: Sure. Let’s talk a little bit about the 22q Center here at Nationwide Children’s Hospital. This is kind of a unique program, isn’t it?
Dr. Richard Kirschner: It is. There are a few around the country. I came to Nationwide Children’s from the Children’s Hospital of Philadelphia, which really started the first comprehensive 22q center. In March of last year we opened the doors to our 22q Center here at Nationwide Children’s. It is unique in that we really provide absolutely comprehensive coordinated care for these children, so we have representatives from each of the disciplines that are touched by 22q. And every child that comes to our doors receives an individualized assessment and management plan.
One of the things that makes our program unique is that our specialists really do talk to one another and so after we’ve all had the chance to examine the children that come through our doors, we do meet monthly to discuss all of the patients so that we can come up with a coordinated plan, because what’s happening in cardiology affects what’s happening in plastic surgery and what’s happening in endocrinology may affect that as well. We’re all looking at the whole elephant.
Dr. Mike Patrick: Yeah. And I think that’s really important from the family’s perspective because when you have a disease that’s really affecting all of these different organ systems you can imagine how crazy that would get when you have an appointment with the cardiologist and then with plastic surgery, with the speech and language folks at different locations at different times. So this is really one center that they can go to and be plugged in. Are they able to see more than one doctor on a given day?
Dr. Richard Kirschner: Absolutely. Some of our families will come from out of time and they’ll stay for approximately a week or so and during that time we arrange them to see all the specialists that they need to see. But you’re right and this is an area that’s so frustrating for parents of children affected with 22q, they may have a child who has a heart defect and a cardiologist in town that understands 22q, but they might have difficulty finding speech therapist in town that understands 22q as well. And so here is a chance for them to come in and actually see a group of specialists that understand all of the aspects.
Dr. Mike Patrick: Sure. Now let’s say a family has a child affected with 22q and they want to come to a comprehensive center like this because there isn’t one close to them, this is where they want to be, how often would they have to travel to Columbus to come to the clinic?
Dr. Richard Kirschner: On average we see the children yearly for follow-up evaluations but we work very closely with their primary care providers back home and so our speech therapist will work very closely with their local speech therapist, for example, and the same for all the other disciplines as well. So, we have some families that will come one time for a comprehensive evaluation, sort of a coordinated care plan that they take back to their own part of the country. And we other families that come and see us annually for follow-up evaluations.
Dr. Mike Patrick: I know not just from a medical standpoint with seeing the cardiologist and plastic surgery and dealing with the speech and language problems and all the other things that can go along with 22q, but there’s also the family support component of it too, because parents can feel sort of isolated and out there alone and dealing with this. As I understand there’s a pretty big family support component to the 22q Center as well?
Dr. Adriane Baylis: Yes. We have probably one of the most active family support programs for 22q in the U.S. and we owe a lot of that success to a couple of our parents that have really stepped up in the past two years to create a program in collaboration with some of the 22q Center team members and staff at Nationwide Children’s. Our social worker has taken a big role in that group as well to work closely with those families and get their input on the direction of events that we have, what kind of educational materials we need and we’re hosting our first day-long educational symposium for families in just a couple of weeks on September 22nd as well.
Dr. Mike Patrick: Let’s talk about that a little bit. It’s A Healthy You and 22q and we’ve been actually talking it up a little bit on PediaCast so my listeners are familiar with what’s going on. What is happening on that day? What can parents who come expect?
Dr. Richard Kirschner: OK. So this is a pretty special event. It’s a day-long event and we’ve put it together primarily designed it for parents and children affected by 22q, but in reality it’s an event that even primary care providers will benefit from from an educational standpoint. And the way we’ve set it up is we have two wonderful keynote addresses, so Dr. Paula Goldenberg, MD, where we’ll be speaking early in the morning. Dr. Goldenberg has the unique position of being able to speak to families both from the perspective of a care provider, being a geneticist herself who takes care of children with 22q and as a parent of an affected child.
And we also have a wonderful keynote that will be provided by Michelle Breedlove-Sells and Michelle is with the Dempster Foundation.
Dr. Mike Patrick: She was just on the show. Just right before you guys came in.
Dr. Richard Kirschner: So Michelle is going to speak about how families with 22q can partner with their care providers and with foundations like the Dempster Foundation to increase awareness of 22q and to advocate for our kids. So the keynotes will take place early in the morning and that will be followed by a series of sort of standard lectures by the specialists in their fields discussing what’s new in 22q in each of the areas. And that will be a broad range of topics from medical topics to education of children with 22q, for example.
Simultaneously with that we will have a program for our kids. So there are age-appropriate activities planned for our children and this range anything from simple physical fitness activities to self-esteem building exercises and team building exercises. We’ll get the parents and their children back together for a big social event, our 22q BBQ which we’ll have in our new park here in front of Nationwide Children’s. It’s going to be a nice chance for the families to now work with one another and with the care providers.
And then in the afternoon, we have what we call live chat rooms. One of the things that we found from a lot of our parents that attend conferences in 22q is far more than being lectured to, they really are looking for an opportunity to be able to ask the specialist their questions. And so we have arranged for what we call live chat rooms where parents will have a chance to sit with the specialist and do nothing but ask their questions. We have no lectures planned and that will be simultaneously broadcast over the Internet for families that can’t make it here to Columbus.
Dr. Mike Patrick: Now that’s excellent. So it’s going to be great information for the kids with 22q, the caregivers, parents, grandparents, anyone who’s interested and then clinicians will get really a lot out of it as well.
Dr. Richard Kirschner: Absolutely. It’s going to be a great day.
Dr. Mike Patrick: So September 22nd 2012 from 8:00 in the morning until 4:30 PM here on the campus of Nationwide Children’s Hospital in Columbus, Ohio. And if you’re coming from out of town, we have a great zoo and a great science center and other things that folks could do if they wanted to make a long weekend of it.
Dr. Adriane Baylis: I’ve even heard some of the families are coming in the night before and all going out to dinner together and getting together just kind of gear up for the event the next day.
Dr. Mike Patrick: Sure. Yeah. And we’ll put a link in the Show Notes over at pediacast.org, if you head there and look for episode 226 and in the Show Notes we’ll have links to the conference page itself and also a link where you can get yourself registered because we still have plenty of spots for folks who would want to come.
Speaking of links in the Show Notes, we also have link to the 22q Center here at Nationwide Children’s Hospital with information on referral stuff, so if you have a child with 22q and you’d like to be evaluated at our center the information there is on how you could get plugged in is at that website. And then we’ll also have links to the Dempster Family Foundation and the 22q Mystery Tour Bus campaign and then the International 22q Foundation, it’s 22q.org, they have lots of great information at their website as well.
So thank you very much to Dr. Kirschner and Dr. Baylis for stopping by. We really, really appreciate you taking time out of your schedules.
Dr. Richard Kirschner: It’s been a pleasure. Thanks Mike.
Dr. Adriane Baylis: Thank you.
Dr. Mike Patrick: And of course thanks to all of you out there for joining us too. We are going to take a quick break and we’ll be back with Ryan Dempster, the founder of the Dempster Family Foundation and starting pitcher with the Texas Rangers. He’ll be here right after this.
All right. We are heading back to the Skype line and this time we have the man, himself, the founder of the Dempster Family Foundation and pitcher with the Texas Rangers of Major League Baseball, Ryan Dempster. Welcome to PediaCast, Ryan.
Ryan Dempster: Yeah. Thanks for having me on it.
Dr. Mike Patrick: We really appreciate it. So tell me how does a professional baseball player become interested in 22q?
Ryan Dempster: Well, obviously I think the number one reason is that my daughter, Riley, was born with the 22q deletion and so it kind of sparked our interest as parents as to what 22q is all about. And so we’re already in the process of starting up a foundation before she was born and decided that I wanted to make the head of it go towards something and I wasn’t sure what it was going to be and Jenny suggested to direct it to the foundation. He said, you know what you want to be. You know something, soldier. I don’t know, something will come up, well, something came up in a big way and Riley was born with the 22q deletion and the next thing you know it’s kind of the main focus towards what the foundation is and what it’s for and try to drive awareness for.
Dr. Mike Patrick: Sure. And I would imagine you’d never heard of 22q before that time.
Ryan Dempster: No, not at all. It was something that was completely unfamiliar to both Jenny and I and obviously once we found out, she tried to find out as much as she possibly could about it. Different symptoms, where the best doctors were and all these kinds of things, but it was something that for sure, every parent, not every parent, that’s what we’re trying to change, but most parents when they do find out about it they really have a lot of knowledge about it to. They know it’s a common syndrome but not a lot of people realize how common it is.
Dr. Mike Patrick: Right. Exactly. So tell us a little bit about the Dempster Family Foundation. What role does it play with regard to 22q?
Ryan Dempster: Well, I think there are a couple of different factors. One is obviously raising money. We have grants and some of those grants are for camps, different things to not only kind of better the research side of 22q to find out as much as we intend about it but also benefit the family and the people who already have it. And try to create a 22q community where people can go, people can talk to each other and especially for the kids themselves, help improve their quality life, have them send their kids to a camp where they can go for a week. There’s a campus that’s incredible and kids, a lot of them, never spent time away from home and now they’re getting five or six days away from their parents and they get to kind of enjoy their life a little bit.
And there’s also the awareness side which Michelle Breedlove-Sells, who’s the director of Development and Medical Outreach for the foundation has done an amazing job of driving awareness. Right now, she’s currently on a 21-day tour. We have an RV that’s quite decorated and it’s driving around the country going to different things, whether it’s going to Alabama and Todd Simpson let their child play, whether it’s driving to Kentucky for a blue lunch or to Pennsylvania for podcasts, whatever she can do to help drive as much awareness and get people talking about 22q, wondering what it’s all about. So that’s kind of our two main focuses – obviously to raise money to help families and help the children and also to drive awareness. I’m very lucky playing baseball that we get this public platform to be able to speak on it and I have been able to drive a lot of awareness that way. So it’s been tremendous.
Dr. Mike Patrick: Yeah. I have to tell the folks that 22q Mystery Tour Bus campaign is really a cool thing and we did talk to Michelle a little bit earlier in the program with all the different stops and what you’re doing and that’s really a cool idea.
Ryan Dempster: Yeah. It’s really great. You can just check it out. You can go on the web and go to www.22qbus.com and you have all the different families and celebrities even and friends of the foundation just were all on board the bus for 22q. So really, really incredible and amazing support.
Dr. Mike Patrick: Yeah. I’ll put a link to that site in the Show Notes so folks can find pretty easily. It’s amazing what that kind of awareness can create. Just the other day my family, we were eating at a pizza joint here in town and someone had a bumper sticker that had 22q on it and they had their window down so they’re waiting for their pizza to come out then I just mentioned about the conference that’s coming up here at Children’s and as it turns out they knew about it and they’d already registered. But just something as simple as bumper stickers can get people talking.
Ryan Dempster: Yeah. Absolutely. And the thing is what is it? What is it all about? I think that’s the question that we’re trying to drive and just to make the people aware of it. When you see the bus just like the pink version of the mystery van from Scooby-Doo driving out the freeway, Michelle said the other day she stopped for gas in the middle of the night and six state troopers came on and asked her all about it and what it was all about, the next thing you know they’re spreading the word and that’s how it happens. We’re one family. We’re one set of parents that had a child with it and we can’t do it all alone unless everybody’s talking about it. They ask the questions. And I think that’s what’s just been amazing about all is how fast everybody is spreading it.
A short little story actually, our very first annual fund raising we did a giant Casino Night and we tried to provide some entertainment as well. The first thing, Gary Allen decided to come play. He’s a huge favorite of the foundation. He comes and brings his whole band and play for free. One of his band members called the foundation because they had a child that was born with 22q.
Dr. Mike Patrick: Yeah. That’s amazing.
Ryan Dempster: That’s surreal. That’s just the goodness of a heart, they had no idea about it and the next thing you know they have a child born with it. So pretty incredible.
Dr. Mike Patrick: Yeah. Absolutely. Well, we really appreciate you stopping by and of course good luck with the rest of the baseball season.
Ryan Dempster: Yeah. Thank you very much. I appreciate it.
Dr. Mike Patrick: Great. All right. Let’s take a quick break and I’ll be back to wrap up the show, right after this.
All right. That wraps up our program today. I want to thank Michelle Breedlove-Sells and Ryan Dempsters, both with the Dempster Family Foundation for stopping by. Also thanks to Dr. Richard Kirschner and Dr. Adriane Baylis, both co-directors of our 22q Center here at Nationwide Children’s Hospital. And of course, as always, I want to thank all of you listeners out there for taking the time out of your day to make PediaCast a part of it. We really do appreciate it.
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