Episode 4: Chatting with a Genetic Counselor ft. Grace Branger, MGC

In Episode 4 of Roadmap to Rare, Eric Finn is joined by Grace Branger, MGC, a genetic counselor who helps families navigate genetic testing and rare disease diagnoses. Grace discusses the basis of genetic testing, explains how to make sense of a genetic report—including uncertain results—and speaks to the guilt parents may feel after a diagnosis. She also expands upon how genetic counseling supports the whole family and discusses questions that parents can ask genetic counselors.

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Links and Resources:

GeneReviews: https://www.ncbi.nlm.nih.gov/books/NBK581083/

How to read your genetic report: https://www.youtube.com/watch?v=RR1FwdI-WZQ

Variant of uncertain significance (VUS) explained: https://www.csnk2a1foundation.org/understanding-the-significance-of-your-genetic-variant

Transcript

Speaker 0:07

Welcome everyone to this episode of Roadmap to Rare, our podcast where we discuss the rare disease journey through real stories, real challenges, and research. Today we're going to be joined by Grace Branger, a genetic counselor who works with families in navigating the genetic diagnosis and rare diseases. Many of our OCNDS families may already be familiar with genetic counselors because they've often been the first people the families meet during the diagnosis journey. They help explain genetic testing, the results, the answers, and really there to help support families in those early days and unfamiliar times. So for many families, those early conversations can lead to a lasting impact. I'll be honest, when I my wife and I went to Billings, those are close, well, Denver and Billings are the two closest, so three and five hours from where we live to get genetic testing done. And we got the testing done. My wife has a friend who's got a son that's older than our son, our son's Ronin. And they had genetic testing done for him, and they found some other some stuff that really has made a lasting impact in their life. So we were like, yep, we want to do that with our son too, because he just seems delayed or he's he's not where he should be. So we want to see if there's anything that's not that we can't see. So did the first round, they're like, no, nothing came up. Okay. Okay, we want to do the second round. Are you sure? You're positive. I'm sure it's gonna might cost you a lot. It might or it might not find anything. We usually don't find anything, it's gonna cost you money. Like, there were so many but I don't know, I don't know. And my wife was like, finally, no, I yes, we'll pay for it. We we don't care. And uh then the lady who called uh my wife back to let her know that yeah, that there is. Uh we did find something. My wife was like, Well, is there something you want to tell me?

Speaker 1 1:57

Yeah.

Speaker 1:58

And some of those times it's it's such an uncertain area that, like, oh okay, now we know, but what does that mean with a lot of people? So um before we get into that, I'd love to start uh at the beginning. And Grace, can you start off by introducing yourself and talk a little bit about why you decided to become a genetic counselor?

Speaker 1 2:15

Yeah, of course. Well, thanks for having me on the podcast. Um, like Eric said, my name is Grace. I just recently graduated from the Vanderbilt University Master of Genetic Counseling program, and so it's a two-year program that I started after I finished undergrad, um, and really dives into both kind of the genetics education and all of the information we need to know about genetic disorders and inheritance and risks and how we pass those things on, but also diving into the psychosocial aspect of it too, and helping to support those families through kind of what that diagnosis looks like for them and adapting to it later on. Um, so I absolutely loved my program and love the field that I'm in. Um, I first heard about genetics and kind of genetic conditions when I was pretty young. So my family has a family history of cancer, and my mom got diagnosed with breast cancer when she was 45. And so, kind of her young diagnosis mixed with early onset breast cancers and some of her other relatives and some ovarian cancer in my mom's family, too, kind of raised this red flag for her doctor. And thankfully, they did genetic testing for her back then, which was like 15 years ago. And so thankfully, we identified that we do have a genetic variant that makes our risk for inherited cancers increased, um, and we can develop them at earlier ages. And so, since learning that information, a lot of my family members have been tested, and so we've been able to kind of take that preventative step of starting screenings early, um, and even some of my family members doing like preventative surgeries. And so that was kind of a wake-up call for me that genetic information can be very powerful and we can use it in good ways. I know it's scary to find out that information, but it really has been kind of life-changing for my family. Um and so that was kind of like the introduction and cancer side of it. But when I was in undergrad, I started studying genetics and started working at a respite center for kids with disabilities. So through that experience, I got to see what life looks like with a lot of different conditions and realized that the whole family experience is really important to disability. Um, and I realized that I really did want to help families throughout that entire process. And so genetic counseling was kind of just that natural road for me from my personal life early on learning about it into undergrad and getting more interested in kind of the family experience.

unknown 4:45

Yeah.

Speaker 4:45

Sounds like it. Um I have to ask, what was your undergrad? What was your um area?

Speaker 1 4:51

Yeah, so I did my undergrad degree at the University of Wisconsin and I majored in genetics and genomics. They had a really great genetics program there. And then I did a minor, we called it a certificate, but it was in disability rights and services. And so through that program, I was able to learn more about um kind of the history of disability, different disability theories, and different ways to view them and how people incorporate them into their lives. Um, and then I was able to volunteer at that respite center. So that kind of opened the door for me to getting more interested in rare disease.

Speaker 5:27

Oh, that's great. It's really interesting to hear the that side of it, you know, the learning about it. And we've learned a lot just going through the whole process and trying to understand what are the pieces that you guys are talking about.

Speaker 1 5:39

Right. Yeah, you're learning from a first-person point of view, definitely.

Speaker 5:44

Exactly. So let's let's go ahead and get started on kind of the genetic testing and uh 101. So take me through genetic testing 101.

Speaker 1 5:53

Yeah. So before I even explain testing to families, I often like to kind of give a preview and a very simplified version of what is genetics, because there are so many terms and so much confusion that comes along with it when you're thinking about genetic testing and what does this all mean. I like to use an analogy of like a library, and so within all of our cells, we hold that genetic information kind of in these instruction manuals. And so our body has all of these books like in a big library, and each of those books we can think of as being those individual chromosomes. And so we know we get 23 chromosomes from mom or the egg, 23 chromosomes from dad or the sperm. And um, we can take each of those books or chromosomes and kind of flip through the pages and see that there's more kind of precise packets of information in there, which we can call the genes. So we can think of each chapter as a different gene. And so when we think of OCNDS, we're talking about that CSNK2A1 gene holding specific instructions for kind of how the body develops, how the brain develops, and the neurons and all of those things. Um so when we look at those chapters even closer, we can see that there's words on the page or the actual spelling of the genetic code, and that's what we can think of as our DNA. And so when we're doing different types of genetic testing, different genetic tests will look at those different levels. Some of them looking at the whole library, some of them looking only at the chapters of some of those genes, um, and some of them looking, you know, specifically on the word level, making sure all those words are spelled correctly. Um, so when we think of kind of the most broad, zoomed-out type of genetic test, we can think of something called a karyotype, which is something that a lot of families might have done first. This is kind of taking a snapshot of all of your chromosomes. Um, they used to actually like take a picture and cut out the different chromosomes and line them up next to each other to make sure that they all matched up, that all the pieces were in the right spots. Yeah, and so this is making sure that like we have all of those 46 chromosomes and all the pieces of them are in the right places. And then zooming in a little bit closer, we have something called a chromosomal microarray, or sometimes people call it a CMA. Um, and so this is when we're looking a little bit closer at those chromosomes, trying to see if there's any missing or extra pieces. And so this one will kind of look at bigger deletions and duplications of genetic material that could either be new in a child or passed on by a parent as well. But still kind of looking at the library level, at those books kind of as a whole. And then for a lot of conditions, we have changes that are in specific genes. And so, in order to look at those specific genes and the spelling of those genes, we have to look a little bit closer. And so we'll do something called sequencing. Um, so people might have heard of a term called whole exome sequencing, um, gene sequencing. So that's when we're actually looking at all of the spelling of those genes or those most important parts of our genetic information. Um, so when we're doing something called whole exome sequencing, it's looking at all of the genes in our body, which is around 20,000 genes. And so it's kind of doing a spell check to see if all of the letters and all those words are what we would expect them to be. And if there is a change, we would look at if this change is likely harmful or if it's likely something that's just due to normal variation, which we can kind of get into a little bit later. Um, but typically when we do whole exome sequencing, we're also looking to see these genetic changes correlate with certain symptoms. And so um, if families have done whole exome sequencing, they'll often see a doctor, a geneticist, nurse practitioner first to kind of get some different symptoms down on the paper that they can send to the lab so the lab can filter through those genetic changes and see which ones might be more related to those symptoms.

Speaker 10:08

Okay.

Speaker 1 10:10

And then kind of the broadest test we can go is whole genome sequencing. So instead of just looking at those 20,000 genes, we're also looking at kind of the what people thought was junk DNA for a little bit. So if you think of an instruction manual or book, you've got like the table of contents and you've got the references in the back. Not many people think that that's super important, um, but it is important. And sometimes people have changes in those areas that affect the way the genes produce their proteins. And so that's another test that looks most comprehensively at all of our DNA to see if there's something hidden that we might not have seen before.

Speaker 10:51

That that's um the whole exomes, more the words, and then what's the one that looks at like the extra stuff?

Speaker 1 10:58

Yeah, whole genome sequencing looks at all the extra stuff. So all of the information between the most important words and the most important parts of those chapters.

Speaker 11:10

Punctuations correct, two little spaces, make sure all that.

Speaker 1 11:13

Yeah, no, exactly. That's exactly what it's like. One thing I was just gonna say is that we can also just do specific gene sequencing too. So we can just test for one gene or we can test for multiple genes at one time. So sometimes um you can test for genes related to developmental delay or genes related to different heart conditions. And so that would that would do the spell check, but with specific genes all at the same time.

Speaker 11:41

Kind of like you guys probably did with your cancer. You know, well, we know that this is it, that this is where we can look specifically.

Speaker 1 11:49

Yep, exactly. Yep, we just looked at one gene and that was that was what had a change in it. Yeah.

Speaker 11:56

Okay. Um, so kind of more on a personal level, I guess. Um, what which one of these tests are more likely to identify? Like, I'm sure it'd be great to have somebody be able to do the whole genome sequencing first. But I'm sure most places are like, nah, we'll wait on that one. I I that at least in my experience, I feel like what probably happened was the chromosomal microarray was done, like, eh, nothing.

Speaker 1 12:22

Yep.

Speaker 12:22

And then we were asking for more, so the whole exome sequencing would have been the second one.

Speaker 1 12:27

Yeah, that's a great question. I think it really depends on the hospital that you're at, honestly, is what they have to offer. Um, and sometimes insurance companies too. So sometimes it's required by insurance to have smaller tests first that come back negative before we can do the bigger test. Um, but since OCNDS does kind of have those non-specific symptoms and it is a pretty rare condition, uh, I think whole exome sequencing is probably what most families get diagnosed through. Um, I do know that some gene panels might have the CSNK2A1 gene on it, but since it is just so rare, um I don't think that that's as widely available.

Speaker 13:07

I know ours was I feel like our results came back pretty quick, but um do you feel like with each one of those different types of um testing, the time that it takes to come back is pretty much the same as the like microsomal, uh chromosomal microarray might take a month, and then whole exome might make two months, and then a whole gene, just the more you have, the longer it takes, or how do you feel like that goes for it?

Speaker 1 13:36

Yeah, I think that I think that typically the more yeah, the more um complex of a test you do, the longer it's gonna take. So something like a chromosomal microarray might only take a week, for example. Um, but then the whole exome sequencing might take a couple weeks to a couple months, um, also depending on where we send the test. So if it's a test that we can do in-house at our hospital, it might be quicker. But if we have to draw the sample and then send it to a lab where it might take a couple days even to kind of ship the sample back and forth, then it can add to the results.

unknown 14:09

Yeah.

Speaker 14:10

When the families get the genetic report back, like I know we got an email uh with a report. Is there any place that you feel like parents should, you know, t start taking a look at, or there's a spot to, or try to read it all and just skim it at first? Or, you know, I'm a parent, I just got this, you know, ring of paper back. What's the what do you feel like is one of the better first steps?

Speaker 1 14:34

Mm-hmm. It could yeah, it can be overwhelming to get that like 10-page document and not even know where to start. Um, so it's definitely okay to look at it and not know what you're looking at, and hopefully you'll have someone explain that to you. Um, but I do think the first place to start is probably the first page, usually that has the most important information kind of front and center for you. The labs sometimes do a good job of kind of highlighting that information. Um, what you might see on the front page is kind of the type of test that you did. So if you did whole exome sequencing, it would probably say that on the top of the report. Um, and then it would probably give you the high-level view of the test result, whether it was positive, meaning that it found a genetic change that might be causative of these symptoms, or it's negative where we didn't see any genetic changes that relate to what's going on. And then we can also have uncertain results. And so it might say that there was something called a variant of uncertain significance that was found. So, kind of in in big, bold letters, there should be kind of a synopsis of this test result. Um, and from there we can kind of see some more information that might be confusing at first because it might just feel like a combination of letters and numbers, and like we don't even know what this means. It's minutia, there's a lot of letters, it's very confusing. Um, but it should list the gene name on there that there was a change found in. And like we've already talked about, CSNK2A1 is very long and lengthy and confusing, but that is important. Um, maybe not important right away, but eventually it will be important and it might help you kind of connect to people like this foundation. Um, it should also, by the gene, it might also have some more letters and numbers that tell you exactly what the genetic change is. And so it's kind of it gives you like a little bit of a an address or a roadmap telling you exactly where in the gene that change was, which might not be super important for families right away, but you might need that if you want to kind of enroll in a research study, or sometimes there might be some specific therapies for some conditions that need a certain genetic change. So there's usually that type of um denotation on the report. And then it'll often say something like how it the variant is classified. So it might say pathogenic, likely pathogenic, that VUS or uncertain, and then could even be benign or likely benign. And so those are also just like science-y long words saying if we think this change is likely to cause these symptoms, it might be pathogenic or what we think of like disease causing. Um, if we're kind of uncertain, it might be that VUS category, or if we think it's just normal variation, it might be in that benign or not harmful category. So those are some of the first things that you might see on the front page, um, along with the condition name. And typically there's a little paragraph explaining more about the condition, like symptoms that you could expect. Um, and so those are typically the most important things to look at right away for families. But I do hope that um a healthcare provider is walking through families all of these things so that it makes a little bit more sense when they see it for the second, third, fourth, fifth time.

Speaker 18:02

Kinda. At least in our like we my wife works at a college here. Um, and so we she's a deep diver. Like, oh, we've got it. Okay, I need to, I need to looking through. And we went uh we went back to talk to a genetic counselor, and the lady was like, I've never heard of this before. Um here's some articles that I found. And my wife was like, Yeah, I have them. They're already highlighted and flagged and noted on the side. So and I mean, I feel like that would be expected with a lot of people that have the ultra-rare because they are ultra rare. So it's like, oh, we're kind of learning together, as much as you know, it is.

Speaker 1 18:43

Right, right. Yeah, you can think of there's 20,000 genes or so, maybe even more that we don't know of yet. And so we can't know all of the conditions. Um, but yeah, I think it's it's great when kind of the healthcare providers work with you to learn about it. Um, because you are oftentimes learning at the same time about these really, really rare conditions.

Speaker 19:05

And I'll be honest, as a parent, I would much rather them be like, hey, we're kind of learning together than oh yeah, no, I I yeah, I know all of this. Like Yeah. No, you don't. Just be honest about it. Like, we're all learning together. Oh, okay. But the nice thing is like we can bounce questions off of somebody that like somebody like them that would have, or like yourself that would have more of a background, like, okay, what does this mean? Or like, this is what I'm interpreting it as, and at least get that like, yeah, you're right. Oh, thank goodness. Okay, I'm good.

Speaker 1 19:34

Yeah, absolutely.

Speaker 19:35

Yeah, thank goodness. Um, you mentioned the variant of uncertain significance. I know like my son has uh mutation of the specific air gene. There are some that have a deletion, like those, I feel like are like the you know, you're missing a paragraph, you're missing a whole chapter, but then like the the the variant of uncertain significance, like, ooh, did the do they mean to put a semicolon instead of a period? Like a a little change that could change it, but you don't know what it's is uh tell me a little bit more about that.

Speaker 1 20:07

Yeah, so if we were to look at all of our DNA, we would all have plenty of changes that we don't know exactly what they mean. And a lot of them are just contributing to our normal variation that makes us unique. Um and we just don't have a lot of research on kind of how this change affects the body. So a lot of times if we get back one of those uncertain results, it can mean a few different things. It can mean that this is a variant that we haven't seen very often, so we don't have like other people to look at to see if it actually causes their symptoms or not. Um sometimes we will see that this is a change that um when we do kind of computer models, the computer models aren't telling us that it's gonna cause this big change in the specific chapter. And so that can be another clue as to maybe this is not currently a disease-causing change, but it's something that if we find out more information down the line, it could be kind of upgraded or reclassified to something that is harmful or disease-causing. Um sometimes if we see that a child has an uncertain um genetic change, we can test the parents to see if this change was inherited by them or passed down by them, or if it's a new change in the kiddo. Um, typically, if we see that it's a new change in the kid, that might raise our suspicion that it might be disease-causing. And so there's a few things that we can do to kind of help clarify an uncertain result. But we do tell families that, you know, this can be kind of discouraging. It can be confusing for families who get these results. And every few years, we do like to kind of rerun those results and see if there's any new information that we've learned in the past few years that could help us make a new determination on if this change is. Something we should be following, or if it's something that's just a unique part of your child.

Speaker 22:05

Parents get this report, and I know we we've got the report, and um I was teaching at elementary school, she was a professor at at the college, like we get this, and we're like, oh, wow. Uh I think majority of parents look at it and go, what did I do? I did something. What did I do wrong? Did I do something wrong? For whatever reason, I feel like we always internalize it first. Cause like, well, it he he came from us. What did we do wrong? And like go through, okay, did I oh I might have had some fish. Uh oh, did I change the cat letter once? Like the the list of things that just run through your mind are like, what did I do? I know I read to him, I did all this stuff, like he did something wrong. Um I'm sure a lot of that in the the report and talking to the counselor, there's ways they can kind of help lessen that on their on their side. Um, what have you found for parents like that?

Speaker 1 23:07

Yeah, it's a very common feeling to have. Um, a lot of families struggle with that kind of guilt or um, yeah, just the feeling that they caused it and wishing that they could have done something differently leading up to pregnancy or during pregnancy that could make this go away. Um, and so if families share that, I never want to diminish that because that's such a real feeling, but I do want to share that there really is nothing that parents could have done to prevent this from happening or to cause this to happen. Um, like we've been talking about kind of we pass these chromosomes and these genes on without picking which one we're gonna pass on. All of this, this genetic um, this inheritance is random. Um and a lot of genetic changes are completely random and um sporadic. They happen randomly without even being passed on by a parent. And so a lot of times with OCNDS, there's genetic changes that are new in the child that we didn't find in the mom and dad. And so there's even more reason to know that there's nothing that you did to cause this to happen, um, which is is hard for parents to hear. Like you said, like you kind of internalize it and start rethinking everything you've done. Um, but hopefully over time that can be more of a truth for families and they can be more comforted by that fact that yes, there is nothing that I did to cause this or that I could have done to take this away from my child.

Speaker 24:37

Yeah, I think a lot of the times leading with something like that would be, I mean, from a parent to a counselor, like leading with a hey, as I was looking over everything, like everything I see, nothing, nothing came from you guys. You know, that initial open with something like that would be like, oh, you sure? Like they're always it's gonna take a while for it to finally like hit in there because for the longest time you're like, okay, what did I do? Did I not? We did, we did this.

Speaker 1 25:08

Yeah. And I think sometimes with more genetic testing happening in the prenatal sense, like before baby is born, some families are like, why didn't I do more testing um before I got pregnant or when I was pregnant? And like I said, a lot of those things just happen randomly, kind of when the sperm meets the egg, and there's nothing that you could have tested for before getting pregnant that would have given you a clue to this. Yeah.

Speaker 25:34

Yeah. We've got a family friend who has a the they have a daughter that really didn't the sonograms, all that kind of stuff, nothing showed up, the genetic testing didn't, and their daughter has a like ultra, ultra rare, like double something that they really didn't find out that she had that until she was like six months old. It was one of those like, well, the testing didn't show anything, and just oh no, and yeah. So sometimes they can, sometimes they can't, but it is nice to get that like okay, alright. Yes, yeah. Um so kind of on that same side when parents think that there's might be something kind of different with their child or something that they feel like they might be behind on. Um I know our town does screenings, I do screenings for um kids that are birthed to three years old, and if we do find a developmental delay um before the IEP, they write an uh I write IFSP, so the um individualized family service plan. So the kids are less than three years old, it can't be for him, it's got to be for the family to help that child. Then once they turn three till they're 21, then the IEP is written specifically for that child. Um is there parts of the IFSP or IEP that families could um bring in the gen, or like how could a family use a genetic counselor to help with those as the kids as the child's grow older?

Speaker 1 27:01

Yeah, that's a great question. A lot of times to qualify for services, families will need a genetic diagnosis. And so sometimes that genetic testing is the first step for them to be able to get those services wherever they're living. Um, but genetic counselors can also help to gauge kind of what the next steps might look like for them. So if speech delay is a concern for kids with this condition, um, helping them find those speech therapy resources. Um, if we see that kids really benefit from earlier interventions with physical therapy and occupational therapy, kind of cluing them into that might be a good next step to incorporate in their child's development plans or to do during school. So I think that genetic counselors can play a good role in identifying the supports that might be helpful for them as they grow and develop, and also like establishing the diagnosis in order to get those services hopefully covered or help with qualification for services if they weren't able to qualify in the past.

Speaker 28:07

Sure. I know it kind of helped with us, and I'm I'll have to see your what you feel like. But once we once Ronin got the OCNDS diagnosis, and we were able to look kind of through, not that he had all the characteristics that that can associate with it, but some of it were like, ooh, okay, I think that, I think that, oh, he doesn't have that. Like looking through and like, well, he's got hypotonia, so the low muscle muscle tone, uh late, which made him late to crawl, late to walk, and even now he's still uncertain on steps and some other spots, but um it was kind of interesting. I'm I'm used to seeing other boys that like jump off couches or like the reckless behavior. Ronin has walked down backwards for years, like he's really self-aware of like, I don't think I can do this. Like in doing this, I'm like, oh, thank goodness we don't have a daredevil in this sense, but um, I really feel like it helped to like okay, this is this is what at least in general, kids with OCNDS are in this area. Now, are there some out here? Yeah, yeah, there's always going to be outliers, but within this area, then you know, can he grow to be an outlier? Sure. I feel like you know that it can, but it definitely helped understand on our end, and I think the specialists too. Um, do you feel like that's kind of the same thing with a lot of the other um genetics that you've seen?

Speaker 1 29:29

Yeah, I think that's a great point, is that it kind of clues you into where your kid might be right now and what supports they might need right now. Um, so I think with a lot of genetic conditions, there aren't specific treatments or therapies that they we have readily available. Like with OCNDS, there isn't a specific medication that we can give them. Um, but we can get an insight into yeah, maybe there could be a heart defect. So maybe we should go see a cardiologist just to make sure that that's all good. Or maybe they could have troubles with their vision. And so let's go to the eye doctor and see if there's anything going on there. So it can kind of give you different places to look just to make sure that we're covering all the bases for your kid's health, um, which I think can be helpful for families. Um, but I know it's it can be really overwhelming to look at a list of symptoms, especially when your kid is really young, and to think about what could come in the future. Yeah, it's always a very delicate balance to think about okay, a family is newly diagnosed. What's most important to share with them right now? What's most important for doctors to get them hooked into, and what might be a conversation that we have during the second or third visit instead of this first initial one. So that's always a kind of delicate balance for genetic counselors to to consider during results sessions.

Speaker 30:48

I would lead with the person. I feel like some of it is what it just hits hard of like, how are you doing with all of this? We'll talk about the speech and the other stuff later.

Speaker 1 30:57

But yes, definitely diving into kind of what we call the psychosocial aspect of the case in some of those results disclosures is way more important than making sure they know exactly what the genetic change is or exactly what that list of symptoms looks like. Yeah. So when we're giving this diagnosis to families, it is important to think about the whole family that's affected. Um and I'm particularly interested in kind of the sibling experience of disability and genetic diagnoses too. And so a lot of parents have questions about how they should talk to their kids about their other child's genetic disorder and kind of when they should introduce those conversations, what they should look like. And as genetic counselors, we always say like early and often and in an age-appropriate manner. And so you can never start too early talking about these things. Um I think it's just important to open the door for your other kids to ask questions. Kids are very curious. They might notice differences between themselves and their siblings. Um, they might notice differences in the school setting or with friends. And so really just being open as a parent to answering any questions they have and kind of not hiding the the question or not hiding answers from the kids when they ask questions, I think is most important. Um, but I don't know if there's like a a one right answer for how to navigate talking to other siblings about it, um, since it is very specific to each family. But it is important that we kind of include siblings in on that conversation because their experience is unique to them as well.

Speaker 32:32

Sure. I was gonna say, even like I I don't I'm an only child and Ronin will be an only child, so haven't gone through all that side of it, but I see it a lot with what I taught, I taught second grade or third grade for four years and second grade for a year. And um, now I I work out of preschool, so the kids come in when they're three, leave around five, six, depending on the birthdays. But I honestly feel like the the open conversation the kids have that have gone here or are going here about their classmates. I could almost I swear I could tell those kids that I could be like, you went to the pre the children's developmental center, didn't you? Yeah. Yeah. Because like they just were they were more open, they were more um well, not welcoming, but like, oh, okay, to to everybody, not just kids with uh any sort of genetic um disease or disorder, and just everybody. I'm like, oh, yeah, but talking about it and it being just oh, yeah, yeah, they they just learn differently. He'll be fine, you know, like it's not a big deal that because it's been in the forefront and been talked about, they're more oh, okay. And they and they know they can ask questions and they know when not to ask questions.

Speaker 1 33:43

Yes, yeah, which is also important skill to learn. Yeah.

Speaker 33:47

You kind of helped uh spearhead the OCNDS disease concept model. Um, can you tell me a little bit more about what it is and why it's important?

Speaker 1 33:54

Yeah. So the disease concept model that I've been working on is really this patient-centered, family-centered, more comprehensive model of OCNDS and how it affects the lived experience of people who have it. Um, and so through this study, we recruited families from the CSNK2A1 Foundation to talk openly about their experiences. Um, and then we also talked to some educators and healthcare professionals to also give additional insights into how they've seen the condition affect people they've worked with and kind of what they've seen as strengths and challenges with this condition. Um, so through this study, we've seen a lot of symptoms that weren't published previously in the literature. Um, they weren't kind of on gene reviews or they weren't in those websites that you might find the list of symptoms for OCNDS, which really makes it known that the parents know a lot about their kids and they know a lot about the experience that their kids go through. And so just emphasizes the importance of including the whole family in research. Um, and along with the disease concept model, we looked at different kinds of familial factors or different familial effects, different effects to the individual, like um, how OCNDS affects schooling or work or how it affects them emotionally. How does it affect siblings? How does it affect kind of the social aspect of a family? Um, and if it does affect those things at all. And so through those interviews, yeah, we got to learn a lot about OCNDS, not just the symptoms, but also kind of how it impacts the whole family. So I did share at the research family and researcher conference last summer, kind of the preliminary results from the study, but we are finishing it up, and so we have a lot more to share with families. And so there actually is a webinar that will be posted on YouTube by the time this episode comes out.

Speaker 35:54

Perfect. And what do you feel like your uh the the project you're doing, what do you feel like that's gonna help with the community, our community kind of moving forward?

Speaker 1 36:03

Yeah, that's a great question. I think I think a lot about like the validation that families felt by sharing this and hearing others have similar experiences. And I hope that this can be a resource not only for newly diagnosed families to look at kind of what this really truly might look like for their family, but also for families who have had a diagnosis for a few years and maybe they're struggling with a new symptom, or maybe they're experiencing a different stage of life than they were in previously, and wanting to get some insights into how other families have navigated that. Um, I think that it's also a good resource to for other providers to see exactly how this condition might affect their families. Because we talked about this condition is really rare. There's not a lot of information on it. And so having one place with all the symptoms that we currently know about and the effects to the family is going to be a really great place to start for healthcare providers, for educators, um, for physical therapists, for speech therapists, um, everyone involved in the care for these kids.

Speaker 37:13

All right. Um, well, I guess to kind of close us out, um, just one last question for you. What's one question you wish more parents would ask to you or to other counselors during a visit, but they usually don't or maybe are afraid to.

Speaker 1 37:27

Mm-hmm. Yeah, that's a good question. I think we kind of touched on this earlier, but I think when families are in those sessions, they're really focused on their kids and how their kid is doing and how they can get supports for their child. But like you mentioned before, I think families are maybe nervous to ask what supports are available for them and kind of ask more about the coping and adaptation process and share about their struggles or how they're personally navigating this. And so as a genetic counselor, I always want to be the one to ask families those questions in case they're too afraid to ask it themselves. Um, but I would encourage families to not be afraid to ask the questions about how to get support for themselves. Um, some families might need to talk to a therapist for a little bit, just to have a third party help them navigate this experience. Or some families might need help with discussing this with other relatives. And how do I explain this to other relatives or how do I explain it to teachers? And so we're always there as a resource. Um, and so I would just, yeah, encourage, encourage families to be open and honest about all of those things if they're struggling with them.

Speaker 38:41

Perfect. Well, thank you so much for for coming on and talking today. Uh, is there anything else that maybe I didn't touch on that you wanted to touch on before we get going?

Speaker 1 38:51

No, I think that was everything. I think through my project, I've realized how important the CSNK 2A1 Foundation is for all these families. So just thank you for what you're doing, and yeah, a great resource for every family involved. So yeah.

Speaker 39:06

Yeah, thank you for all the work you've done and specifically for us. I mean, I'm gonna be selfish for our community, but for the whole genetic community and the the area you're going into is very it's a special spot for the right people, and yeah, um, I feel like you're gonna do great with it as long as you keep keep up.

unknown 39:23

Yeah.

Speaker 1 39:24

Well, thank you. Yeah, I appreciate it.

Speaker 39:26

All right, so for families who are brand new and not yet connected in the community, families can submit a confirmation of their genetic testing through the CSNK2A1 Foundation. Um, this is the first step to getting connected to us. Uh, once the report's submitted, a team uh can verify this, the variant, and connect the family to resources, which I thought was really neat when we went through it. All of a sudden we said, like, oh hey, we want to get a Facebook page. Okay. So we just you know hit the you know um subscribe, or you know, we want to follow it, and we got a uh a message back, oh do you have your report? Yeah, oh can we see it? Like, yeah, yeah, actually, that uh sure. And uh then we got a message back of like, oh yeah, uh Dr. Oker said, Yep, that's correct. Like the person still alive? Not used to having somebody still alive looking at it, like, yeah, I said that that's what he has. Like, and so connecting the families with any resources, the foundation website, um, and the Facebook community like we were part of. And if report comes back that you're not related, um, having that report means the foundation can redirect you and help the family in any way, shape, or form to connect with relevant community people as well. So if you haven't already and you're interested and you're listening, find us on Facebook, those kind of things, and we can kind of work through that way for it. So uh we just want to thank Grace, Grace Branger, um, and everything you're gonna be doing, and um everybody listening or watching. Don't forget to like, comment, subscribe, and listen wherever you listen to podcasts, and links to everything that we talked about is gonna be in our show notes. And hopefully we'll uh you guys will be listening here soon to our next episode. Thanks again.