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22Q Deletion Syndrome: A Multidisciplinary Approach to Individualized Care

Children with 22q11.2 Deletion/Duplication Syndrome are faced with many doctors’ visits across the health care system. With the burdens this puts not only on the family but also their doctors, Children’s Mercy created the Super Q Express 22Q Clinic multidisciplinary clinic. The clinic provides family access to a team of expert clinicians and provides comprehensive individualized diagnostic and management services in Cardiology, Immunology, ENT/cleft palate, GI, behavior/development, and Endocrinology. A social worker and medical coordinator are also present during the visits to provide additional support.

Listen in to hear from Max Feldt, DO on the impact the Super Q Express 22Q Clinic has had on patients with 22q11.2 Deletion Syndrome.

22Q Deletion Syndrome: A Multidisciplinary Approach to Individualized Care
Featured Speaker:
Matthew M. Feldt, DO
Matthew (Max) Feldt, DO is the Director of Children’s Mercy Endocrine Clinical Services/ Outreach Program and Assistant Professor of Pediatrics at the University of Missouri-Kansas City. Dr. Feldt completed his degree at Kansas City University of Medicine and Biosciences, his residency in pediatrics at Schneider Children’s Hospital in New Hyde Park, New York, and his fellowship in pediatric endocrinology/metabolism at Rainbow Babies and Children’s Hospital, University Hospitals Health System in Cleveland, Ohio. Dr. Feldt is certified in pediatrics and has special interests in calcium and bone metabolism, 22Q deletion/duplication syndromes, growth and puberty disorders, parathyroid and adrenal disorders, and endocrine complications associated with cystic fibrosis.

Learn more about Matthew M. Feldt, DO
Transcription:
22Q Deletion Syndrome: A Multidisciplinary Approach to Individualized Care

Dr. Michael Smith (Host):  Our topic today is “22Q Deletion Syndrome:  A Multi-Disciplinary Approach to Individualized Care”. My guest is Dr. Max Feldt. Dr. Feldt is the Director of Children's Mercy Endocrine Clinical Services and Outreach program and Assistant Professor of Pediatrics at the University of Missouri, Kansas City. Dr. Feldt, welcome to the show.

Dr. Max Feldt (Guest):  Thank you for having me.

Dr. Smith:  Tell us about the 22Q Deletion Syndrome and, more specifically, why Children's Mercy felt the need to start The Super Q Express Clinic?

Dr. Feldt:  Certainly. Well, this is something that has been around for many, many years but it's gone by many different names. It's only been more recently that we've understood the genetics where it's a section on the 22nd chromosome that is actually missing and there is a gene on that, that then leads to a lot of different kind of syndromes--things that happen oftentimes in the midline. So, we can see things involving the heart, the lungs. In terms of lips and the palate, there can be some clefting. In terms of hormonal issues, there can be lots of issues with calcium, the thyroid, and there's just a multitude of concerns that can happen. Actually, there have been multiple studies looking at the phenotype which can vary from extremely mild to having more than one hundred and sixty different systems. So, that's why it's gone by multiple names in the past but now that we understand the genetics of it, we understand that it's all linked to this. Why we here felt that it was necessary to start this is because these children are very invested in the medical system. They see multiple doctors. They oftentimes have to come in for multiple visits throughout the week, throughout the month. We really kind of looked back and saw that a lot of these families were just having trouble being able to meet the needs of what was needed in the terms of going to these visits. They were having a lot of missed appointments or cancellations or rescheduling. And so, we really thought that there was a need to try to have one central resource for them so that we could help out in terms of scheduling appointments, getting them there.  When they come to the appointment they can see multiple providers at the same time which then, of course, saves them the time that they would have.

Dr. Smith:  Yes. So, when you think back to what this actually is, it's a deletion of a gene. Is it normal to see so many different potential phenotypes from a gene deletion like this? You would think that a deletion of a gene would be more narrow in how this presents but this sounds like it could be hormonal. It could be cardiovascular. I mean, this is a whole array of things, right?

Dr. Feldt:  That's right and that's actually something that we're still trying to figure out. There has been quite a bit of literature out there looking at this specific deletion in that region and whether or not it actually links well to the phenotype. Unfortunately, that's not really the case. So, we don't understand a lot of the mechanism that gives us such a spectrum. This is something that we've known about for quite some time and we felt that it occurs probably in about one in four thousand people. However, more recently, new literature shows that this actually may be occurring very, very frequently, maybe even up to like one in eight hundred people. So, this phenotype here may be very mild where people may not realize that they actually have this. Or, it's been thought that maybe some of the other symptoms may be due to something else when, in reality, it may actually be due to this issue.

Dr. Smith:  What impact has the clinic had on patients and their families?

Dr. Feldt:  We've been going now for about three years and what it allows us to do is to basically help these families navigate the system, to coordinate care, to provide a visit which is basically a half day where we can allow them to be able to see six providers at the same time. That may cut down on six separate visits, six separate times that they have to take off work. It also allows for them to be able to have access to services that may take them months to navigate into. The families have told me that, in terms of not only saving time but just getting access to resources, that that's been lifesaving in terms of just getting the care that is needed for them. It's also important that it's not only that we're looking at the child themselves but we're looking at the family. Oftentimes these families are dealing with lots of other social constraints and we are able to have them meet with a social worker during that visit, too, and that really helps in terms of making sure that the child can see the providers but also navigate the system and make sure that they get the care that they need.

Dr. Smith:  So, I guess when you think about, you mentioned on an average, without your clinic, they would have to have six separate visits. So, I can imagine right off the bat, Dr. Feldt, that the greatest impact is simply probably on patient compliance in showing up for all of these doctor visits. What I'd like to do, Children's Mercy has so many different specialty clinics and many of them take on this multi-disciplinary approach. I'd like for the audience to hear what a typical visit might be for the patient and families. Walk us through that. Who do they see first? How long does these visits last? Just tell us, what kind of feedback do you get from the families?

Dr. Feldt:  Sure. So, we do these once per month, on the first Wednesday of the month. We have the patients come in and we have a session in the morning and then a session in the afternoon starting around 12:  30. We let the families know that it's going to be a long day. There are going to be many things happening. They're going to be able to see multiple providers and, that way, they're kind of prepared for that. That way, they know if they need to bring any things to basically help them out in terms of the timing. They meet with our nursing staff first to find out if there are any specific issues. We do a review of systems and then we gather some of the information to help facilitate the visit for the day. What we'd like to do, at least the model that we're currently doing here for the past three years is that we basically have a family stay in one central location and then the providers come to them. We feel that is a nice model for the family. That way, they're not having to transfer from room to room and take all their stuff with them. So, we basically have time set aside for each of the providers to be able to go in, speak with the family, do the exam, do the medical assessment and then the next one can cycle in. We have social work that is part of that process. That way, they can assess whether or not there are any specific concerns. And then, basically, at the end of the visit we have a process where we print out all the things that were discussed during the visit. We really feel that we want to make sure that the parents have something that they can take home with them. The theme of it is a train. So, we have a train kind of hand out for them so that way each of the times that some family comes in, they can write down specific things that were mentioned during that visit. If the parents have questions, they can fill it out there. We really want to make sure that they have information so that when they go home they can refer and if they have any additional questions to it, they can let us know. What we also like to do during the day is, after we see the patient for the half day, then all the providers meet typically at lunch and we discuss each of them. That way we can make sure that if there's any type of concern that may impact the model system, or the cardiac system, or the immune system, we can compare. That way, we can plan for the future.

Dr. Smith:  By the way, Dr. Feldt, I found it really interesting when you said that the patients stay in one room and the doctors come to them. But when I hear that, I'm like, “Oh, what a great system. Why haven't we thought of that a long time ago?” That's a great way to do this and it probably decreases a lot of stress. How do the families feel about this?

Dr. Feldt:  So far, the families love it. What they like is that it's really focused for them. They feel like that we are providing a wonderful service that can look, not only at one specific issue, but look at the entire medical history, the patient as a whole, as well as look at the family. I think what sometimes happens when you're seeing them separately is that you're really only focusing on that one thing. Does the child have a calcium issue or a thyroid issue? But, in reality, we need to be looking at the whole patient. I've had many family members tell me that they really feel that we look at them as a whole and they felt that we were having more discussions between providers, and making a medical decision that was really based upon the entire story. And so, parents have been very, very thrilled with that, as well as the providers. I have to tell you that one of the things that I've also gotten back in terms of feedback is from the physicians themselves. They’ve told me that they are learning so much more from the people that they work with. That can really help them in terms of being able to care for these children.

Dr. Smith:  So, we're talking about The Super Q Express 22Q Clinic. Dr. Feldt, is this becoming a model for other medical centres throughout the country?

Dr. Feldt:  I hope so, yes. One of the things that I think we do a little bit differently than some other centers is that we're not looking for the short term. There are some other centers that really are primarily focusing on the surgical concerns if they have cardiac, or a cleft lip. Oftentimes, those things get corrected within a few years of life. My focus is really for the long term. My focus is to make sure that we can provide continued care for this patient from the moment that we see them until we can help them to move on and then make sure that they can get the necessary care for when they turn 21. We actually seem them up to age 21. So, we want to make sure that we have that continued process and I hope that is a model that can help out.

Dr. Smith:  Right. That's great. Dr. Feldt, I want to thank you for the work that you're doing. It really does sound like a very unique approach. Thanks for coming on the show. 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. Thanks for listening.