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Dr. Kendra Vieh-Rocker, a pediatric neuropsychologist specializing in rare genetic conditions, joins the podcast to discuss the emotional and psychological impacts of being diagnosed with rare medical conditions. Rare diseases are defined as conditions that affect fewer than 200,000 people at any given time. They often have chronic and progressive symptoms, with delayed diagnosis and limited treatment options. The early stages of diagnosis can result in emotional, psychological, and physical challenges for caregivers and parents. Dr. Kendra compares the experience to navigating unfamiliar terrain without a roadmap or GPS. However, she emphasizes the importance of finding support and resources to manage the journey, leading to a closer bond with the child and appreciation for small victories. Welcome to At the Table with Sarah and Julie. At the Table is a podcast by two pediatric registered dieticians and moms who love food and wine. This podcast aims to have insightful conversations about all things food, from navigating pediatric nutrition and managing selective eaters, to exploring oral development and understanding genetic disorders, pregnancy, motherhood, mental health, to promoting sustainability, eating out at restaurants, talking to chefs, and organizations that support feeding kids. We cover a wide range of topics with our goal to provide you with evidence-based insights, but also to be a hub of true expert voices in the food and nutrition field. At the Table is meant to be a comfortable environment where we sit down and chat, laugh, and learn from each other. Grab a glass of wine, pull up a chair, and dive into the delicious world of food with us. In this episode of At the Table, we are here with Dr. Kendra Vieh-Rocker, who is a pediatric neuropsychologist with specialized expertise in rare genetic conditions. With faculty appointments at the University of Minnesota and Children's Hospital Colorado and University of Colorado, she has pursued extended studies in genetics, metabolism, and neurodivergent conditions. An advocate, researcher, and speaker, Dr. Kendra has numerous publications on rare genetic conditions. Her work focuses on multidisciplinary approaches to care, seeking to improve health outcomes, and alleviate stressors associated with pediatric and adult conditions, ultimately enhancing the overall quality of life for the patient. Dr. Kendra currently lives in Minneapolis, Minnesota, where she owns a consultancy business, 3to1 Neuropsychology Consultants, LLC. She joined us today to talk about well-being and the emotional and psychological impacts of being diagnosed with rare medical conditions. We are very excited to have her today, so welcome Dr. Kendra Vieh-Rocker. Welcome to At the Table. Today we're here with Dr. Kendra and we are so excited to have you because I think this is an interesting topic that not a lot of families get to really listen to and I know I work in the area of rare diseases, I think for some of the listeners have heard a little bit of my background. I work in pediatric genetics and I met Kendra at a conference recently this year and I was fascinated by her story and what she does and what her research is on, so welcome to At the Table. Thank you very much, Sarah and Julie. I'm honored to be here and excited to talk about this very important topic on mental health. It's critical that we talk about it because the numbers are going up, but first I'd like to just tell you a little bit about what a pediatric neuropsychologist is. When you say pediatric neuropsychologist, they kind of take it apart, they say, okay, I know neuro, I know psychologist, but what does that mean when it's all put together? And really we're licensed psychologists, we have training in both clinical psychology and neuropsychology with special training in how the brain develops. So I'm a pediatric neuropsychologist for rare diseases, so I'm a specialist and I focus on assessing and understanding cognitive, emotional, behavioral challenges that children with rare diseases or rare conditions may face, as it oftentimes being in genetics that involves the brain and the nervous system. Can you tell us how do we define rare diseases today? Rare diseases are defined as conditions that really affect a small number of the population, but in the US, it's a disease, if I may use that word, considered rare if it affects fewer than 200,000 people at any given time. Although it's rare individually, there are over 7,000 types of rare diseases to date and right now worldwide, there's 300 million who live with a rare disease. About 80% of those have a genetic cause and almost 70% which present in childhood. So there's different characteristics of a rare disease. It can be traced back to a single gene mutation. Some diseases are referred to rare genetic and so that's why we use those terms. And then it's chronic and progressive. So many rare diseases are chronic, meaning that they last a long time and it can worsen over time. Many times, which is heartbreaking, there's a delay in the diagnosis. So it could be like four to eight years sometimes there are some rare diseases that take a longer time than that and then many lack treatment as well. So they're quite rare and most people when you say I work in the rare disease world, they have no idea what a rare disease is. So it's less than 200,000. I don't know if you've heard of Adrenal Leukodystrophy, but they could be riding their bike and fall and hit their head and just that motion of hitting their head or some change in their environment will cause the disease to express itself. Parents sometimes don't even know until it's much later in childhood. That's very interesting. So it often is more of an environmental or some type of trigger that then can cause the disease to present itself in a more active form. Is that correct? It could be that or it could be the parents don't have any other children to compare this child to. So they don't know what typically developing children are and the stumbling may be something they just kind of slough off or the not talking early compared to other children. They may kind of think, oh, I was a late talker or something like that. So they dismiss some of the signs that typically could be seen or they're not playing with certain toys or when they go to grasp something, the visual field off to the left is not quite there. So they just naturally moved into their line of vision. Well, that could be something that is starting and that they didn't see. It's not started. They were born with it, but it just wasn't discovered until later or diagnosed, I should say. Right. Yes, that's correct. Okay. So what would be the early stages of diagnosis in childhood? Can you walk us through that? I'll walk you through it. And I'm going to give you an analogy because I like to teach in analogies. But typically individuals can go through emotional, psychological, physical, oftentimes even spiritual is what we call in the medical field, biopsychosocial or more commonly as holistic. So you can't separate one from the other. And so as caregivers or parents, the loss is profound and undeniable. The emotional reactions can be fear, anger, shame, and guilt, psychological, they can become depressed, anxious, they develop phobias because they're always taking their children up to the clinics or hospitals. They sometimes become obsessive, compulsive, and then physically they're tired, extreme fatigue and trouble sleeping and eating. But when you receive a diagnosis of a rare disease or condition, you really are hit in the gut and you drop to the floor and you brace yourself next to the table and you say, what? Because you don't have a shelf in your mind that says whatever diagnosis the doctor tells you. You don't have that shelf. You don't have the books, the articles, the knowledge that is built in. I remember when I was pregnant with my second daughter and we went for a hike in the Bob Marshall Wilderness while I was expecting, which is located in the Rocky Mountains of Northwestern Montana. It's a place that nature rules and access is on foot or horseback and grizzly bears or the habitat is very wild. And we were walking along a trail and then that trail became really faint and the trail then suddenly ended and I looked up and all I could see were treetops and a small sliver of blue sky. No trail, no map, no way out and nobody to ask for help. And this is what I feel that it is like when you get a diagnosis that is lifelong. You don't have a roadmap or a GPS. You know, you are on a familiar road because when you are pregnant and you're expecting a child, you have dreams and you have hopes that many parents have. I had them with my own children imagining that they would go on to be something. So you have these visions of these milestones and typical experiences that all parents dream about. But then a diagnosis will shift your path unexpectedly and now you find yourself on a trailhead leading to unfamiliar terrain, much like the heavy, heavy terrain that's found in Montana's national parks, knowing that you must leave behind certain expectations but you're not sure where that road is going to lead you. And then that new path is overgrown and uneven when you get the diagnosis because you don't know what to do with it. You've never heard about it. There are no clear markers for the journey ahead, just a compass that you have the hope and resilience. And every step requires patience, caution, and the courage to move forward without knowing exactly what the next turn is going to be like. And then as you progress through your journey, you find new tools to help you manage that, like information, support from other parents, expert guidance, the personal strength you knew you never had. My son passed away of leukemia, which is not chronic, it's acute. So he didn't have a rare disease. But I remember one time I was just completely exhausted. I was still working and taking him to the hospital, with him in the hospital, taking him to treatments and stuff. I just came home and I just flopped on the bed just beyond exhaustion. And I just said, I need strength. And I think that's one thing that came out of my journey was I realized how much strength I had that I knew I never could have had. And I hear that from a lot of parents that you have no other choice, you have to keep going on. And so the resources become your survival gear, people become your survival gear. And then on this path, there are different days, rocky patches, so it's not going to be just the same trail, but you're going to discover the beauty that I was talking about. It's a closer bond with your child, deeper appreciation for those really small victories. So if your child recognizes something or smiles at you, no matter how small, it feels monumental because how hard you both work to get there. And eventually, you become the guide for others. So your footprints become the guide for others beginning their journey. What we call it in the medical field is you're now paving the way as a natural history study because it could be so rare that we don't know much information about it. And then eventually, you look back and you see how far you've actually come and you marvel at the strength and you don't become the traveler now, you become the pioneer, creating a path with love, purpose and strength. You touched on a lot of things, but I think the beginning, it is that grief, right? When you get that diagnosis, many of the families don't realize that they are grieving and that you have to go through that process in order to be able to get to the other side and then just to get to that acceptance so that you can start moving forward. It's okay for you to have those feelings and emotions and go through those stages in order to get to that other side. I'm so happy you said that because it brings to mind a quote by Viktor Frankl and Viktor Frankl said, an abnormal reaction to an abnormal situation is really a normal behavior. And I think that we don't give ourselves credit enough. We always feel like we have to portray a certain persona to other people around us when actually we're very much grieving inside. And so I used to say to some of the postdoctoral trainees, they would come out and say, oh, the parents are just crying, I can't schedule anything with them. And I'd say, that's a normal reaction for an abnormal situation. But it is, like you said about the grieving, it is a readjustment and an adjustment. And that readjustment and adjustment period is when they process it all, not through pre-described steps, but it could be just a singular approach, but it could be many approaches that they get to where they want to go. And I always tell parents too, I first tell them that comparison is the thief of joy because when in the rare world, what happens is you hear about a rare disease and the parents will then automatically either Google it or they will call somebody or somebody will be assigned to them who has the rare disease or the rare condition. And then they start comparing notes. And comparison is really the thief of joy because even within the rare world, there are differences for the same disease. It's on a spectrum. You can have mild, you can have more serious types of that condition. And even there's variabilities within the family if the family has more than one child with that same condition. So even comparing them to the other sibling. So I start right off with saying that. And then I don't know if you've noticed in your practices, but in my practice, what happens is someone takes the lead. And typically that's the mother. The mother will come in with a nine pound notebook. Everything is just organized. The dads will come in and I will look at them because I'm much older. And I say, in my experience over the last quarter of a century, what happens is men want to fix things. And this is something you cannot fix. You can be there, you can process, you can help, you can get resources, but you can't fix it. And I say, here's a couple of things you might be led to do. You might get a tattoo, you probably will buy a Harley Davidson, or you're going to do something that's out of line. So the next time I see you, we're going to talk about that. And the one guy rolled up his sleeve, he said, too late, I already got a tattoo. And one father bought a restaurant and he couldn't even boil water. It was his way to fix it. His way to, I can control this. And it's just a way to decrease anxiety. That's what it is. Some parents will say, I'm not grieving at all because they don't know that grieving could be something other than losing someone special in your life. Grieving is just a transition from one extreme to the next. So think of grieving as a series of tasks that needs to be completed, not necessarily in sequence. But they go through a process of grieving themselves and they don't call it that because they don't know the right terminology or the right definition for grieving. A lot of times, too, I see the anticipatory grief and parents after they've adjusted, readjust, adjust, readjust, which by the way, can happen many times in a week. It could happen if their child's entering kindergarten, then they go through that again, that grieving process. And then when they go to middle school or when they go to high school or when summer comes, and if it's a child with Duchenne muscular dystrophy, they see the kids playing in a park, then that grieving can come and go. So they have what's called anticipatory grief, refers to the grief reaction that occurs in anticipation of an impending loss. And so if you have a rare disease where it progressively gets worse, 95% of rare diseases do not have a treatment, then you're going to go through anticipatory grief, which sometimes gives parents and loved ones a sense of numbness, detachment because they're protecting themselves or absence of emotional responsiveness. I often train my students that if they don't react, that's part of all of this. If they sit there and if they have flat affect, they just have an absence of emotional response at the time, that's part of that grieving process. It is interesting because it's also a loss of self-image and self-worth and self-esteem, and that becomes this vicious cycle. But there's something that I kind of coined a long time ago, and it's called genetic grief. And I think I've mentioned this before, Sarah, where it's a unique emotional experience people go through when they face the reality of a genetic condition in themselves, but they don't express it, they pass it on to their children. And it becomes a genetic grief that involves just terrible anguish is how I would like to describe it. It's just profound sense of what did I do to my child and just hope beyond hope that things will get better. And then the fear becomes, you can just cut the fear and helplessness with a knife when they get into this cycle of grief and then anguish, and they're unclear of the prognosis. And then they become afraid and they become powerless and overwhelmed with the unknowns of the disease. They don't know what the treatments are or their child's future. And then they go into the self-blaming. And we talk about this, parents and loved ones and I talk about that, that it's beyond their control, but still that self-blame, which leads into, and I'll talk about this a little later, is the isolation and loneliness, and then the chronic stress and mental exhaustion. Because if you're living in grief and anguish, you have very little emotions to do anything else, because it takes over. The grieving portion takes over. So I think that is something that is very important for parents to understand that this is normal and you're not walking the trail alone. And I think something you brought up, it's the anticipatory grief. Yeah. And I think that can happen not just in rare diseases, but just in parenthood in general. As your child grows and they go from one place to the other, that baby period when you're nursing and then you have that bond and then when they become toddlers and I think in that transition to school age, it's not a bad grief, but in the type of grief when I'm like, that's not my little baby anymore, it's my little girl now, and you go through those transitions. So it's nice to hear the language and that people and moms and all of us can go through that emotional steps as parents. Especially when they become independent, like even kindergarten, I remember standing outside of the school just crying, just walking back to the house like, yeah, they're independent, there they go. Absolutely. Each transition definitely has its own processes. Maybe they're not as intense, obviously, but the grieving process is still there. Yeah, it is. And both of you brought up a good point. It's in degrees. And so you can be sad and grieving for it or you can be in anguish and grieving for it. Yeah. So I was familiar with the rare disease space. Can you walk through the process of a family getting a diagnosis? Who then is sort of brought on to help them? Like, I imagine the referrals are based on what their condition is and what systems it primarily affects. But I imagine there is some commonality in many of these diagnoses and that a team is called upon for support such as yourself. Yeah, that's really a good question because many places, many clinics, many hospitals do not have a team. And they get the diagnosis and sometimes it's over the phone. And then they're holding the phone going, okay, what do I do next? And then all of a sudden, all these specialists call and say, oh, we've got to make an appointment for cardiology or we've got to make an appointment for an MRI on your child. And the parents had no idea. And so it's very rare in my opinion. Some of the larger institutions have a team. One of my passions is to put a psychologist or a neuropsychologist on the team automatically. I don't know why that they are not on the team immediately to come in. So when they get the diagnosis, say you may or may not need a psychologist, your child may or may not need a neuropsychologist because of learning or behaviors. But if you do need that person, here's a list of people or something like that. That has been a passion of mine for about 20 years. We share across specialties lists of resources for parents, even PKU. It's often in the hospital, a child has PKU. They've never heard of it before. They have a preconceived idea of nursing their child. They don't know what it means, special diet or whatever words they use that confuses the parents and parents want things in small doses. They don't want to be overwhelmed at all at once. But they need to see a team that comes in and says, we are here for you. Here's the number. Here's what I do. Here is what a genetic counselor does. Here's what a dietician does. And then define it because we have a stigma of psychologists. And that stigma, any time you hear a psychologist, they think, oh, I must be going through something. That's not it. You nailed it. That stigma is still present where it obviously just needs to be demystified because you cannot be physically healthy and you cannot be physically able to help your children or your family or yourself if you're not mentally healthy. It's so frustrating that we place the mental piece on the back burner, but we can't really fix a lot of these physical components if we haven't addressed the mental piece first. So it's really astonishing to me to hear that there isn't this team brought in, or especially that isn't the mental piece being addressed proactively. It's the uncertainty that is just something that is almost unbearable. And humans don't like uncertainty. We just are not geared for that. The fear of the unknown is possibly the most fundamental fear of human beings because we survive on plans. Humans survive on plans. We're socialized from childhood to believe that there's a predictable universe. It should happen in a certain order. And that is why when parents get a diagnosis of a rare condition, they're looking, how is my child going to typically develop? There is no plan. Things don't make sense or they run counter to what typically is. And then they feel that negative feeling that you were talking about, which fear and anxiety run hand in hand. But then there's a stigma. Right. So there's a huge stigma on it. So planning for a diagnosis can feel comforting. Thinking too much, though, about the future. You can plan, but thinking too much about it makes you feel uncontrolled and actually generates more uncertainty and anxiety. You could have other children. You could have a career. The car breaks down. The dog just vomited. The UPS guy is at the front door. You've got all of this coming in and still you've got a plan because you've got doctor's appointments. You've got probably special medical foods to prepare. You've got people to report to and you've got to look together because if you don't look good, then someone's going to say, oh, did you see Kendra? Oh, she looks worn out. So there's this whole thing where we try to hide how we're feeling. And when my son was going through his treatment and stuff, one way to get through some of that uncertainty was we used some what's called grounding techniques. And I don't know if you've heard of those where you carry a rock or you have something in your hand that can bring you back to, okay, here's what's going on. He had had a stroke, but colors were vivid for him. He couldn't speak, but colors were vivid. So we would lay out beads and make bracelets for the healthcare providers. And we'd make all sorts of bracelets. And by doing that, it gave him a sense of accomplishment, took his anxiety down. It gave him a sense of, I don't need to be certain right at this moment. What I need to do is make a bracelet for my nurse so that she feels like she's seen in all the hard work. But I think we need to talk about the isolation when you get a diagnosis of a rare condition, which leads back into what Julie, you said, who do they go to? What is the team like? Well, if it's rare, it's not understood well, even in the medical community. The general public, for sure not. And then the healthcare providers, and then trying to explain it to your families. And because of this, caregivers and individuals, to explain a complex medical information, they feel unsupported and maybe even misunderstood. Because take, for example, PKU or something like that. When they say, oh, I'm okay, I have to just drink this formula, blah, blah, blah. Everybody thinks that that's nothing. When in reality, it is. It takes up a lot of their time. It takes up a lot of their thought. And then the support network, like you said, Julie, there's fewer people affected by a specific rare disease. So there's lack of local support. So if somebody says to me, who can I go to if I have Fabry disease and I need a psychologist? You're not going to find someone that specializes in rare diseases, typically. But you are going to find somebody who specializes in anxiety and depression, loss, maybe. And then the stigma that we have talked about as well, the stigma actually keeps them from seeking support. It just keeps them from going anywhere because they don't want to be perceived as somebody who needs help. And I feel that's also something that affects when children start going to school because we don't have a lot of schools that are prepared, don't have the support or the resources in order to take care of a child that has special needs. There are definitely places that are equipped for certain special needs but not to this degree of rare diseases where they require a lot more attention, require a full team. Yeah, I would say in the school systems, I spend a huge amount of my week preparing schools or educating schools, either going into schools in the Twin Cities area or educating them or training. I like doing that, training the parents, but very early on because the minute your child is diagnosed with a rare condition, you have the right to have some of those services come into your home as part of the zero to three program. And most parents don't know that. They don't know that until their child gets into kindergarten, that they could have had OTPT speech or somebody else come into the home and work with their child. So those programs are generally like the zero to three, so the child is diagnosed later than that or they miss that window, they're no longer eligible. If their rare condition interferes with not only their education, but their ability to socialize with other children. So there's a couple of different things there. Then they go into the early childhood special education into an individualized educational program. And so that follows them. And then after they get out of high school, it goes into Americans with Disability Act. Okay. But yes, I imagine that information isn't always easy to find or easy for patients to really utilize those resources. Since there is some of that stigma or also just, again, a lack of a team approach. These families are unfortunately getting missed and not being able to utilize those resources. That would be life-changing. And it's actually a very nice service and resources for your children because you don't have to leave the home. They could come to you and do things with your child prior to a certain age. OTPT, we know that many of the rare conditions have speech and language issues. So they could be working on that. They could be working on communication boards with your young child. They could be working on how to manage some of the behaviors, not only the psychologist, neuropsychologist, but also the educational resources. And so all of this, the uncertainty, the grieving, the anguish, the stigma, if they are not processed through, that's where we get into the depression and anxiety. And that is something that I try to prevent. Do everything you can before that because people can spiral very quickly into depression and anxiety and for good reason. Depression and anxiety are really common. But I was at a meeting one time and I was talking about depression and a woman raised her hand and it was a caregiver. And she said, I think I'm depressed, but I just didn't know it because no one told me what it was like. And it was just so eye-opening for me because it is so true. Because I think that we feel it, but we don't put a word on it and then we don't put a word on it and then we don't get help. So she'd been living with her whole life depressed and didn't even know it because no one had described that. Depression is trouble sleeping, feeling tired, changes in appetite, feeling worthless, have no motivation, losing interest in everything that she loved. And then anxiety is racing heart, irritability, muscle tension, sweating, avoiding situations. So that's why parents miss some of the appointments because it's so anxiety provoking that it brings up so much fear that they avoid it or they avoid certain people or certain things that they once enjoyed. And really two-thirds or more who are living with a chronic condition suffer from either anxiety and depression. That's a lot. And I can imagine that there's a lot of people that are still undiagnosed or don't really know that. So probably the numbers are a little higher. The numbers are higher because they don't want the stigma. They don't know what to put on that. Nobody's really asked them, how are you feeling? And also they don't have time. So if you say, I'm depressed or anxious, it's almost like you cannot be in denial. And so people who are in denial don't have to do the steps they need to take to get better. Then they say, I am an anxious person. It almost calls them to do something about that anxiety. So now that I say it out loud, what am I going to do about that? So the first thing that I would do is I would tell parents to seek out help. It doesn't have to be somebody who knows that rare condition, but central to the concept of adaptation is flexibility. And your mental health is extremely, extremely important. And caring for a child with a rare condition brings out lots of stressors. Just being a parent of a typically developing child brings out stressors. So reach out to peer groups, individuals through support groups, but make sure that they're not naysayers. Make sure that they're positive people who aren't going to be negative, which also doesn't help with anxiety and depression. Things that you can do while you're waiting for an appointment with a therapist are mindfulness, relaxation. Go into YouTube and do relaxation techniques or deep breathing. Do some of the grounding techniques. So one of them is 5, 4, 3, 2, 1 techniques. If you're an anxious person and you're a listener, I want you to do this. Name five things you can see, four things you can hear, three things you can touch, two things you can smell, and one thing you can taste. By refocusing your mind on those certain things, anxiety will go down. And then know as much as you can about the condition because that will take your anxiety down. Be an advocate for yourself. Please set boundaries for yourself. Don't think that you can do everything. Don't sign up for the PTA. Don't sign up for a bunch of things. You're stressed to the limit. But do something for yourself that you love to do. And then therapy, people have a preconceived idea of therapists too. They think that, oh, you're going to go in and just lay on the couch and do this or that. And that they're going to tell you what to do. That is not what therapy is. It's a safe place to express yourself, which is confidential and non-judgmental. So you can have conversations about your struggles, fears, or emotional pain. And they're trained to understand the complexities. They offer insights, but they will help you through it. They're not going to do it for you. They're going to walk with you through it. And then they provide coping strategies that fit for your own personality. Because if I told my husband, oh, we're going to start journaling, uh-uh, ain't going to happen. So they have to kind of get to know you and know, okay, going for a walk in the mountains, okay, I can do that. That'll help me. So they kind of think of things that'll fit within your personality and develop skills and try to normalize some of those feelings. Absolutely. I think those are great tips and resources. This was a wonderful, wonderful conversation. So insightful, inspirational. Even if your child or your family doesn't have a rare disease, as families and with growing children and in the world that we live in today can be so challenging to be a parent that they really understand those resources and what the mental health journey is as well. Let me just add one quick thing. There are free clinics in most cities. And so you can find free clinics in your area at freeclinics.us. And then there's community mental health centers, local nonprofits. And if you live in a city that has a medical school, there always have students and interns that will visit with you as well. So I just want to put that out there. But I want to say to both of you, thank you for having me. Because in my whole life, I love working with rare conditions. They're my heroes. And they teach me every day what perseverance is, what resilience means, and what it means to live in the context of a diagnosis that they didn't ask for. They're the hope holders, really, both with the rare conditions. For patients and their families, hope is an integral part of coping and the process of making meaning. And so I just want to tell you above all else, hold on to hope. Everything is done through hope. So thank you very much for having me and allowing me to share and rattle on. Thank you very much for your time. I think the takeaway is that we can all use from this. So we really appreciate you being with us today. I appreciate you both. Thank you very much. Thank you, Kendra. Thank you so much for joining us at the table. We would like to thank our guests for joining us today and having this insightful conversation. Please make sure to follow us and like us on Instagram, as well as Spotify, Apple, or wherever you get your podcasts. We are Sarah and Julie. Talk to you next time at the table.
