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[00:00:03] Host: Hello and welcome to this edition of Cook Children's Doc Talk. It's a very busy day here in the Child Life Zone at Cook Children's so you may hear a little background noise.
[00:00:13] Host: When a child's immune system doesn't work properly, it can cause problems like severe, frequent or unusual infections and autoimmune disorders. Today, we're talking with Dr. Natalia Chaimowitz and Dr. Alice Phillips about kids, immunology and the broad range of medical advancements and incredible research impacting the diagnosis and treatment of immune disorders in children. First, a little about our guests.
[00:00:39] Host: Dr. Phillips is the medical director for ambulatory quality at Cook Children's. Prior to this role, she spent 28 years as a pediatrician. Dr. Phillips earned her medical degree from Baylor College of Medicine in Houston, Texas, and completed her pediatric residency at Texas Children's Hospital. She and her family relocated to Fort Worth in 1996 when she joined Cook Children's Physician Network at the City View office. As part of her commitment to helping kids at risk, Dr. Phillips also holds a master's degree in public health and is founding director for a Big Brother's, Big Sisters, Big Hope student mentoring program through her church. This program matches at risk kids with mentors
[00:01:23] Host: Mesmerized by the workings of the immune system and the complex processes needed to keep us healthy, Dr. Chaimowitz is passionate about guiding families of children with immune disorders and discovering novel treatments to improve their quality of life. She earned her medical doctorate and doctor of philosophy degrees in microbiology and immunology from Virginia Commonwealth University, and completed her pediatric residency at Cincinnati Children's Hospital and her fellowship in Allergy and Immunology at Texas Children's Hospital. She is also the medical director for Immunology at Cook Children's. She's board certified by the American Academy of Pediatrics and the American Board of Allergy and Immunology, and is also the proud mom of three daughters. Welcome and thank you both for being here.
[00:02:12] Dr. Chaimowitz and Dr. Phillips: Thank you for having us. Yeah, thank you.
[00:02:15] Host: So let's start by talking about the challenges of diagnosing immunodeficiencies in children. Dr. Phillips, as a pediatrician with years of experience, you know what it's like to be on the frontlines of caring for babies, kids and teens. What are the most challenging immune related conditions to diagnose and treat from a primary care perspective? And Dr.Chaimowitz, what makes these so challenging?
[00:02:40] Alice Phillips, M.D.: So when I think about what's challenging in diagnosing these conditions, a couple things come to mind. First, there are the newborns that perhaps our newborn screen catches, that they have signs of a severe combined immunodeficiency. Those can be very scary and need urgent referral to our specialists so that these patients get in the best care the soonest. That helps their outcomes to be stronger than they might not necessarily be without that. And so that's challenging, and that you're dealing with a complex medical condition, a parent who wasn't expecting that in the newborn period, and having to integrate all of that knowledge and those feelings. And then I say, you look at the other side of that, and you have a child who ... maybe they're in daycare, maybe they're having lots of snotty noses, lots of ear infections, things that might be normal, but the parents are worried. And how do you separate that out from the child who's having frequent pneumonia, strange skin infections, things that are unusual, and navigating that fine line between, I need to work this up, because it's really worrying me to I really think we just have a normal kid with daycare-itis that's got a snotty nose all the time.
[00:04:02] Natalia Chaimowitz, M.D.: Yeah, I would agree with what Dr. Phillips said, especially when it comes to the newborn screen. So severe combined immunodeficiency in Texas, we've had newborn screenings available for several years, and that means that we're able to recognize the severely immunocompromised children before they get sick at all, which is really wonderful, because we can do therapies, and for that, it will be a bone marrow transplant before they ever struggle with infection. But now you have a family that they have a newborn with a perfectly healthy looking baby. And me, as an immunologist, I'm going to tell them, “You need to be in a bubble, you cannot leave your house, if anybody has allergies, quote, unquote, they cannot see your baby, because that could be a life threatening exposure, and we need to do a potentially life threatening procedure to cure them”. And so you really have to communicate a lot with the families about what's at risk, and also with the pediatricians.
From a pediatrician's standpoint, they cannot be in the waiting room around other patients that might come in with an infection. So it requires a lot of coordination of care, and like Dr. Phillips mentioned, is really the emotional toll, because these kids are healthy and they look healthy until they get infections. So we work really hard to prevent those infections. And then we really rely heavily on our PCP colleagues for helping tell us who is having more infections, and what’s to be expected and what's normal for their age. Because one of the challenges, and one of the things that leads to a delayed diagnosis is patients coming into our clinic and getting that initial referral. If you come to my clinic, somebody, either the parent or doctor, was worried about their immune system, so I'm going to hear their story and do the workup, but a big delay is getting them through the door.
[00:05:55] Host: So what are the key red flags that may indicate a potential immunodeficiency in a patient, and how should pediatricians approach that evaluation?
[00:06:04] Alice Phillips, M.D.: Red flags for me are things that are out of the ordinary. A skin infection with a bacteria that's not typical, lots of pneumonia, meningitis, things that I'm like, “this is not what normal kids have”. In addition to that, red flags might be the frequency with which they're having infections. Am I unable to get that green snot cleared up despite extensive antibiotics? Or chronic ear infections that persist even after potentially having tubes and that drainage just continues. Those would all be red flags to me. And sometimes there's other components of their medical history that might be a red flag. Any kind of family history, of course that's a red flag. Certain other components of the physical exam that might trigger my concern. Maybe not gaining weight, chronic diarrhea, eczema, things of that nature.
[00:07:05] Natalia Chaimowitz, M.D.: Something that I talk to families about often is that, especially for those toddlers in daycare, the average child can get up to 10 to 12 viral infections a year, usually in the winter. So as a mom of a three year old, I can't remember last time she didn't have snot. And how do you separate that, that I'm telling you, hey, they're sick all winter long, that's normal from what's not normal?
But the majority of those kids don't get a viral infection and then a secondary bacterial infection. It's not like every cold turns into an ear infection or a sinus infection or a pneumonia. And a lot of the patients that I see in my clinic, they're really on antibiotics every month. And parents will tell you we're good when we're on antibiotics, and we're good for about a week, and then now we have a new infection. So that would certainly be a red flag for me. The other thing is that for a long time in immunology, we focused on what I describe as holes in the immune system. So you have a hole, you have a lot of infections. It's either going to be severe, recurring or unusual.
But now, we recognize that there's another category of patients, that they actually have what we call immune dysregulation. So this is where the parts of the immune system that protect our body from attacking itself, are impaired. So these are patients that are going to have autoimmune cytopenias, or inflammatory bowel disease, early onset lupus, severe eczema, and oftentimes multiples of those, to make you think this is just a lot of bad luck for one kid. Why is this all happening to that child, in addition to some infections? So all of those things will be red flags for me.
[00:08:48] Host: So when should a physician refer a patient to immunology?
[00:08:52] Alice Phillips, M.D.: Infections that aren't responsive to antibiotics, frequency of infections, unusual infections. One thing we didn't say is sometimes just parental concern, and that is an acceptable reason for referral. You know, I always have a rule that if a parent brings a problem to me three times, I need to listen and I need to do something too, because my words aren't able to reassure them, and part of my job as a PCP is to help them not be afraid. And if they are scared and afraid that their child has an immune deficiency, it is worth a referral and worth our specialists' time to do a thorough evaluation and make them feel confident that their child is healthy.
[00:09:36] Natalia Chaimowitz, M.D.: I completely agree with that. I often see kids in clinic and the parents are so scared of this potential immunodeficiency that Johnny is not going on play dates, or they're not playing sports and things like that. So even though, maybe the pediatrician doesn't feel there's an immune issue, I hear the story and I don't feel ... I'm not worried for their immune system ... that fear is really impacting their quality of life. So it's worth having a discussion. And sometimes I'll talk to them and I say, “Look, because of all this reason, I don't think we need to do labs today,” but I tell them, “If the fact that we didn't do labs today is going to keep you up at night and you're still going to be worried, let's do them.” Yep! Nobody enjoys a stick. But if the alternative is you not sleeping and still being worried about the health of your child, then it's worthwhile just doing the workup.
[00:10:27] Alice Phillips, M.D. Yeah, and I think that's so true. And the only extra thing I'll add on is if you Google chronic green snot, the first answer is going to be an immune deficiency in the Google search. And so the parents come in pre-loaded with that, the first response is not normal kid, which most of them are, the first response is immunodeficiency and they're scared, and so we have to just know where they're coming from and what their story is.
[00:10:53] Natalia Chaimowitz, M.D.: A lot of the labs that I send, if you Google one, it's going to auto release. They're going to see the results before I had a chance to interpret. And if you Google that, it's going to tell them, "Your child has cancer." So that is something that I tell families, like, I'm not worried about malignancy. The lab, if you Google, might say my recommendations. You don't google and you wait for me. I'm pretty timely with my lab results. And trust me, if we're dealing with cancer, I'll call you no matter what hour. But yeah, Google is not our friend, not our friend.
[00:11:01] Host: I'm glad you mentioned that, because that was my thought. Like the two worst things are Google and well-meaning friends and family.
[00:11:34] Alice Phillips, M.D.: That's right, that's right.
[00:11:36] Natalia Chaimowitz, M.D.: But you know, sometimes I see patients and they're like, I know so-and-so that has something similar, and this is what I'm worried about, and this is why I pushed my pediatrician to refer to you, and oftentimes they're right. So while Google is a scary place, friends and families might not always have the right information, there's value in like the family knowing their child and knowing that there's something wrong and then really advocating for their child to get their best care.
[00:12:04] Host: So what are the major causes of immunodeficiency?
[00:12:09] Natalia Chaimowitz, M.D.: So, when we think about the immune system, there's a lot of different parts, and it's very, very complicated. There's going to be your ... the cells of the immune system, the proteins of the immune system, as well as other signaling pathways. And we really take the patient history to try to nail down which part of the immune system could be affected. There are some immuno-deficiencies, like IGA deficiency, that is as common as to one in 2,000 people, and others are like one in a million. So it really depends which immunodeficiency you're talking about, but the most common thing that we see in clinic are antibody defects, and those are going to be those kids that get lots of ear, sinus and lung infections.
[00:12:52] Host: With so many different immuno-related conditions across a multitude of specialties, where does the process of elimination begin and how do you ultimately arrive at a diagnosis?
[00:13:03] Alice Phillips, M.D.: Well, I'm going to say where it starts, because it starts in the primary care office, recognizing that there's a potential problem, hearing the concerns, maybe getting a blood draw, and we tend to talk about that with our patients. You know, I can do a few blood tests to start this process, looking at a few of the big clues that might tell us there's a problem or not. And sometimes parents will say, yes, let's do that, and we'll do the test. And if it's normal, they feel pretty good and they're confident with waiting and watching. But sometimes they're like, No, I want to wait till I see this specialist and only have one stick from my child, and we negotiate that and talk through that with the families and figure out what the best course is. But if I've done a starting blood test and everything's normal, but there's still concern, I'm going to send them to immunology. If I do a starting blood test and I find something abnormal, I'm going to pick up the phone and I'm going to call, and I'm going to get them an appointment quickly.
[00:14:05] Natalia Chaimowitz, M.D.: How we start the workup depends on how suspicious we are that there's an underlying immunodeficiency, and that's really going to be dependent on the patient history as well as the records that we get from the pediatricians. There are some immunodeficiencies that, for the most part, the labs that we sent are all going to be normal, and we can really only diagnose by genetic testing. So for that, I'm going to assess the parts of the immune system with the testing I have available with blood work, but I'm going to go ahead and send them to genetic testing to begin with, because I'm suspicious enough, and normal labs wouldn't reassure me that there isn't an underlying immune defect going on. For others, where I'm like, you know, you're right on the borderline. This might be normal toddler-in-daycare versus a true immune issue. I'm just going to start with blood work, and that usually includes looking at vaccine responses, looking at immunoglobulin levels, looking at your lymphocyte subsets. But really the most important part is the history that brought the patient into our clinic.
[00:15:11] Host: We've talked a lot about them being like little and young, but do they always show up when they're in their earlier years? Or can they show up in later school age and teen years.
[00:15:22] Natalia Chaimowitz, M.D.: They can absolutely present later, and that happens for one of two reasons. A lot of the patients that we see that are later, it just took that long for someone to put it together. Oftentimes, care can be fragmented. Maybe they moved around quite a bit, or some of their care was this urgent care and that urgent care and that pediatrician. So even though they have a pediatrician, that pediatrician's not seeing all the infections that the child had. So that is some of the patients.
Another group of patients, they just present later, especially those that have immune dysregulation, it's going to take time. Maybe when they were five, they had autoimmune thrombocytopenia, which is not unusual for that age. But then at age 10, they were diagnosed with inflammatory bowel disease, and it is difficult to treat. And it's at that point that someone said, "Hey, maybe there's something going on with the immune system." So I would say, by far, the most common referral are kids in daycare. So I think in my head, they're all littles, but that is really not true.
[00:16:26] Alice Phillips, M.D.: Yeah, and I'll just add those older ones I think are the more challenging diagnoses to make, because, as you alluded to with the question, we often think it's a disease of the little but it can present, and that people don't often realize the value in that history. Sitting down and saying, “Let's go back to every ... let's talk about all your prescriptions, all your antibiotics, how many times you've been treated.” And really tracking that, and looking at the timeline and going, “Huh, you've had 27 courses of antibiotics in the last five years. That's too many. We've got to figure this out.” But that is a brilliant assessment of they've gone to 14 different doctors, and those prescriptions are fragmented, and it's hard to really put those pieces together.
[00:17:13] Natalia Chaimowitz, M.D.: We recently diagnosed a 16 year old patient with X-linked agammaglobulinemia, so X-L-A for short. And, basically, what that means is that he was born without B cells. And B cells are the cells that make antibody. And he presented to the ER with altered mental status. He had bacterial meningitis, needed to be intubated, and when you talk to the family, I was like, “Any pneumonias, ear infections, sinus infections?” And mom was like, “Well, they thought about putting ear tubes but then the ear infections got better.” And so, he was born with a broken immune system. How did he make it to 16? And I say two things to that. One, patients don't read the textbooks, he should have presented at six months of age. And two, luck. Even though he was in school, even though he's been exposed to things, he just didn't get sick. So I think the piece of severe infection is so important because it really took a really astute infectious disease doctor who was seeing this patient to say, yes, strep-pneumo can cause meningitis, but this is really bad meningitis. And could there be something going on with this 16-year-old's immune system to explain that infection?
[00:18:31] Host: Once a patient's immunodeficiency has been confirmed, how can pediatricians and immunologists work together effectively to ensure comprehensive and coordinated care for patients with recurrent or unusual infections?
[00:18:43] Natalia Chaimowitz, M.D.: So once they get diagnosed, we start treatment, and oftentimes that treatment looks like immunoglobulin replacement therapy. And one of the ways I monitor therapy is how frequently they're getting sick. So they're not going to come to me every time they have an ear infection, or they're worried about pneumonia, they're going to go to the pediatrician. So it's really helpful to me when I see them in the office, to be able to look at the pediatrician's notes. Or sometimes pediatricians will reach out to me directly, "Hey Johnny is in my office for the third time needing antibiotics," to know that I need to change something. We encourage our families to call us and let us know, but every family is different. Some will call me for every cough. Others will never call me. So that collaboration with a pediatrician is really important
[00:19:34] Alice Phillips, M.D.: Yeah, and it's really the communication. We have to communicate together because we are going to be the front line seeing those infections. And you know, I've had lots of opportunities over the years where my specialists have said, "Well, if this happens, you need to do this every time." Some kids might need blood work, might need a referral in for an emergency evaluation. And so having really good, clear communication. Clarity on what our next steps are, depending on what we see, is so important. And then for some of the kids who have more severe immunodeficiency, having good policies and procedures to handle those kids that they're not sitting in our waiting room, that we're bringing them in the back door, straight into a room. And we got really good with that through the pandemic, and we just use those same sort of procedures for these kids. You just wait in your car, and when your room is ready, we call you and take you straight in. And that's just really good clarity and communication between our teams so that we know what precautions we should be taking when they come and see us.
[00:20:38] Natalia Chaimowitz, M.D.: One of the perfect examples is, some of our patients, it's not safe for them to receive live viral vaccines. And so PCPs need to know, because that's going to be part of their standard of care. And so me, as immunologist, I'm telling you, “This child do not follow standard care because x, y, z, reason.” So we need to make sure we're on the same page. And then the other thing is that, for some immunodeficiencies, they're susceptible to infections that you normally wouldn't think about. Not every three year old that comes in with this, this is going to be on your differential so for me to communicate, “Hey, there’re increased risk for herpes viral infection. So keep that top of mind should they come to your office.”
[00:21:19] Alice Phillips, M.D.: Following up on that comment about live vaccines, one of the great things about our EMR tool is it'll warn us of that. If they have a diagnosis on their chart of an immunodeficiency and I try to order one of those, it's going to warn me, whoa, Dr. Phillips, you sure you want to do that? And so we have safety nets built in to our EMR to make sure that we don't have any of those accidental missed opportunities, then we give them the wrong vaccine.
[00:21:45] Natalia Chaimowitz, M.D.: Yeah, and so as a backup when I see them in clinic, I'll list it as an allergy. So not only will the diagnosis alert you, but then if that somehow falls through, it'll be like they're allergic, which, as a board certified allergist, it's not really an allergy. But you know that.
00:22 02:] Host: So in addition to the child's primary doctor, what other specialists might be involved and how?
[00:22:12] Natalia Chaimowitz, M.D. We get a lot of referrals from other specialties, particularly for patients with immune dysregulation. So those are going to be GI if we're concerned for inflammatory bowel disease, hematology - oncology, there are certain malignancies are increased … that the incidence is higher in patients with immunodeficiency or immune cytopenias. And then we also get a lot of patients from pulmonary medicine and ENT. ENT is those kids that need multiple sets of tubes prescribed who keep getting ear infections. And then from pulmonary medicine, either those kids with cystic fibrosis that even though they have an underlying lung disease, they're getting sicker than expected, or those with multiple pneumonias that may have some structural airway abnormality, but not enough to justify all their infections.
[00:23:03] Host: And so, how do you coordinate that, then, with primary care. plus immunology, plus the other specialists involved?
[00:23:10] Alice Phillips, M.D.: Well, sometimes that happens just very organically here at Cook Children's, because if I've referred to ENT and ENT sees them and goes, “Huh, I'm really worried about this frequency,” they might connect them with immunology. And anytime any of that happens, as the PCP, I'm notified. I get a note. I get to read what's happening, because our EMR, I can see everything that all the other specialists within Cook Children's do. So I have very clear communication on that.
[00:23:41] Natalia Chaimowitz, M.D.: Yeah, as large of a system as we are for those specialties that we interact often, if there's a kid that they're really worried about, they'll just personally reach out. We'll get them in right away. And I know I can do the same thing, so I feel like we know each other really well, despite our large size.
[00:23:59] Host: What about a child that's referred in from outside the system, somebody who's not a doctor in our system that refers a patient so maybe they don't have access. How does that work?
[00:24:10] Natalia Chaimowitz, M.D.: So they don't know this, but I have best friends out in Lubbock, and in Amarillo, and in Odessa, and I tend to get referrals from the same doctors, and even though the medical records don't talk often, I would text them, "Hey, I saw one of your patients. Let me know when you can chat," and then I'll get on the phone, and then they can update me. Or I was sending an email, “I'm seeing so-and-so in the office next week, please send me updates when you get a chance.” So you develop a network and you develop partners, because at the end of the day, especially if they are out in Lubbock, they're not going to come to me with every acute issue, as they shouldn't. So I need partners local to them. And so we've been able to really build that network. I think we're best friends. I hope they think we're best friends.
[00:24:58] Alice Phillips, M.D.: I'm sure they are!
[00:25:00] Host: Nowadays, access to, especially, specialty primary care, is not as easily accessible as it is here in the metro area, where got a lot more options.
[00:25:13] Alice Phillips, M.D.: Yeah, and I think you're going to see different elements of connectivity between clinics with the EMR, a lot of other hospital systems are on the same EMR, we are, electronic medical record, and those talk to each other. So if they see a specialist at a Lubbock hospital that's on our EMR, I can still see those notes as the PCP, they pull in, they connect. Now, for the community docs that maybe are still on paper charts or on a different type of electronic medical record, I know she's still faxing a note. She's making phone calls. I think our groups do such a fabulous job connecting with everybody in different ways.
[00:25:53] Natalia Chaimowitz, M.D.: Well, and its really leveraging the EMR, because that fax, I don't have to click anything. It just happens. So it's, I wouldn't even know how to turn it off if I wanted to. It's not, you know, it's not a hardship to communicate that way.
[00:26:11] Alice Phillips, M.D.: It's one of the benefits that, you know, as much as we might complain about, you know something's magically happened, and we're like, "Oh, that's wonderful".
[00:26:19] Host: I do, like, when I can, like, pay my bill, then it goes directly and I don’t have to wait for them to call me. So from a science perspective, we've learned a lot about immunodeficiencies in the pediatric population, but even with these breakthroughs, we're still just scratching the surface from a genetics point of view.
[00:26:37] Natalia Chaimowitz, M.D.: That's absolutely right. So every two to three years, there's a publication that describes how many immunodeficiencies have been discovered to date. In between the publication in 2022 and the most recent publication that was published last month, there are 65 new immunodeficiencies. Which means that if three years ago I saw you in clinic, and I did the whole workup, and maybe there's some abnormalities in your lab, but I send genetic testing, and I'm like, I still don't know what you have, and I were to repeat that testing today, I might have a name for your disorder. So immunology is really changing, and advancements in genetics have really changed how we diagnose patients, and there's more and more disorders discovered every year.
[00:27:25] Alice Phillips, M.D.: You know, I think that that, what she just said, is so important for families to hear. Because just because you go once and they say, we can't find anything ... with advances, you gotta come back when they say, come back in a year, it's because next year, we might have more tests and find something. So I think that's really important, because I think sometimes families, they're like, Well, they didn't find anything, so I'm not going to go back, hmmm ... but we're always learning more.
[00:27:52] Natalia Chaimowitz, M.D.: And a discussion I have with families is that, “Just because my genetic testing was negative doesn't negate your history. You still were struggling with infections. You still maybe have some lab abnormalities. I just don't have a name. And because I don't have a name, I can't really give you a natural history of the disease. I can't really tell you necessarily about targeted therapy, but there's still things I can do to help you stay healthy.”
[00:27:52] Host: Dr chaimowitz, what are the latest advancements in genetic testing and targeted therapies for immunodeficiency disorders, and how can these impact treatment plans and patient outcomes?
[00:28:32] Natalia Chaimowitz, M.D.: So for a long time, right, we thought that immunodeficiency was a hole in the immune system. You have infections so I was going to give you, either immunoglobulin replacement or antibiotics or antivirals to prevent those infections. But now, we recognize these immune dysregulation disorders, and there's different mechanisms by way they happen. And so now we're switching to thinking about pathway biology. So which ... I'm sure this takes you back to medical school, thinking about signaling pathways.
[00:29:03] Alice Phillips, M.D.: It does. This is some of the hardest stuff in medical school guys, by the way,
[00:29:08] Natalia Chaimowitz, M.D.: Well, if you want to think about them all day, every day, come visit me. But which signaling pathways are affected? And we have targeted therapies for the different signaling pathways. So, to give you an example, there's a condition called CTLA four haploinsufficiency, meaning that you have half as much CTLA four as you should. And CTLA four is important for the function of regulatory T cells, and those are the cells that police your other cells so the body doesn't attack itself. It's really cool that there's a medication, that is CTLA four protein. So I have a patient that she's lacking CTLA four. So once a month, she comes to the infusion center and I give her CTLA four. So for that condition, we know what's lacking, and we can give it. But I can look at patients that might not have CTLA four haploinsufficiency, but have defects along the same pathway, and maybe try a similar therapy. So it's really understanding the biology and applying it so we can do targeted therapy.
[00:30:11] Alice Phillips, M.D. I'm going to ask a follow up question, because, you know, I hear and read all about gene therapies for Deuchenne, for sickle cell … do you have any of those yet, for the immuno deficiencies, or do you see that on the horizon for us, for our patients?
[00:30:25] Natalia Chaimowitz, M.D.: There's different studies going on for gene therapy, particularly for chronic granulomatous disease. There's also for a type of sched called Artemis, but nothing that has gone to clinical practice yet, but it's exciting, maybe for the future. Yes, so it's predominantly for those patients that will need a bone marrow transplant that's really the focus. Because for bone marrow transplant, they need quite a bit of chemotherapy, and it can be very toxic. But with gene therapy, you can use lower levels of chemo as far as your conditioning.
[00:31:03] Host: So what are the requirements for referring patients to the immunogenetics clinic and research at Cook Children's
[00:31:10] Natalia Chaimowitz, M.D.: The patients that will be referred to this program will really come already from immunology clinic, because we need to do our standard evaluation first. And if our standard evaluation gives us a diagnosis and a clear treatment plan, the patients might be enrolled in the database aspect of it, but don't necessarily need to be in a multidisciplinary clinic with genetics to get more advanced testing. So just like we were talking about patients with severe, recurrent, unusual infections or multiple organ autoimmunity, those patients should be referred to immunology, and then from there, we'll figure it out.
[00:31:45] Alice Phillips, M.D.: Do you think you'll get referrals from outside immunologists as well, since this is such a highly specialized clinic?
[00:31:51] Natalia Chaimowitz, M.D.: Yes,
[00:31:51] Alice Phillips, M.D.: Yeah, that's cool.
[00:31:52] Natalia Chaimowitz, M.D.: And especially a lot of the other ... so with allergen immunology, the training is combined, but you get really good at what you do a lot of. So I am not a great allergist. I'm a pretty good immunologist, because that's what I do all the time. And I imagine that if you ask any person in the community that is mostly doing allergy, that's where … going to be their comfort level. So we actually do get referrals from community allergists quite a bit.
[00:32:03] Host: So how will this research transform immunology and immunogenetics?
[00:32:26] Natalia Chaimowitz, M.D.: Really, the hope is that we are able to provide diagnosis for patients that don't currently have a diagnosis, and then we can give them targeted therapy. But also, as a field as a whole, this allows us to collaborate with other institutions and other providers that might have similar patients and understand rare disease better.
[00:32:51] Host: Dr. Phillips, what is the implication of this research on pediatric patients, pediatricians and primary care physicians? How does this ultimately improve the ongoing care that is provided to patients?
[00:33:03] Alice Phillips, M.D.: Well, you know, this is groundbreaking, and this is really just taking diagnosis to a new level. And our hope is, the PCPs, as we send them to the specialists, they fix them, and then they send them back to us, and the kids get to have a normal life. And so to me, that's what I would think the long term implication of this is, is that we can find these targeted therapies that allow the kids to play soccer and go to birthday parties, and the parents aren't always worried that their kids are going to get some infection there … and have a normal life.
[00:33:40] Natalia Chaimowitz, M.D.: And what you just mentioned really makes me think of a discussion I have with families often, and I tell them, “My job is to support your child's immune system so they can do anything they want to do.”
Oftentimes, when I see them in clinic, they’re home schooled because they were getting so sick being in school. And so I tell them, “I want you to homeschool, because it's a decision of your family, and that's what works best for you, but not because you're worried that your kid being in school is going to make them sick and they're going to end up hospitalized.”
So that is really the whole goal, for kids to be kids and parents not constantly waiting for the other shoe to drop.
[00:34:18] Host: So as we wrap up, looking at where we are now, what exciting breakthroughs do you see for the future of pediatrics and immunology, and how will this improve the way we diagnose patients earlier and ultimately impact the lives of children and families?
[00:34:33] Natalia Chaimowitz, M.D.: I think the more disorders we identify, the better we're able to diagnose our patients and treat them based on their underlying molecular diagnosis. I also do hope that we have gene therapy in the future. But what I think is going to be most meaningful is things like this, like this podcast, and increasing awareness for immunodeficiency, because there's this thought that it is really that kid that is always in the hospital that has an immunodeficiency. But the presentations can be much more subtle, not as severe, and what really delays diagnosis and treatment is them being referred to immunology.
So as we wrap up, my message for people is, if you don't think, "I wonder, this kid needs to be seen by immunology?" just send them. Like, there's no silly referral. And if at the end of the day I see them and I say, “Your immune system is excellent,” that is valuable information. Ultimately, I tell the families like, “I hope the XYZ was bad luck and that you don't have a terrible immunodeficiency, but if you do, we'll take care of you.” So it's really just thinking about the immune system and thinking that there could be an immune issue and referring,
[00:35:50] Alice Phillips, M.D.: Yeah, and I don't really have a lot to add to that, because it's so well said. I think our ultimate goal is to help our kids live their best lives and help the parents enjoy that life and not be scared the whole time.
[00:36:03] (Music under)
Host: Thank you both for taking time out of your really busy schedules today to share this incredible information.
[00:36:09] Alice Phillips, M.D.: Thank you. It was pleasure.
[00:36:11] Natalia Chaimowitz, M.D.: Thank you for having us.
[00:36:13] Host: And for our listeners, you will find more information about research, immunology and immunogenetics on our
[email protected]. You can also access clinical pathways on the health professionals section of the website. And while you're there, sign up for our Doc Talk newsletter. Want more Doc Talk? Get our latest episodes delivered directly to your inbox when you subscribe to our Cook Children's Doc Talk podcast from your favorite podcast provider. And thank you for listening.
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