Changing The Trisomy 13 And 18 Narrative

Unfortunately and inaccurately, the phrase "incompatible with life" still shows up around trisomy 13 and trisomy 18, even as survival data, clinical experience, and professional guidance continue to evolve. We sit down with two leaders who have helped shape a more accurate and humane standard of care: Dr. John Carey, longtime clinical geneticist and SOFT co-founder, and Nick Holladay, president and CEO of the Support Organization for Trisomy (SOFT).

We talk through what families were told decades ago, what has changed, and why the most important shift is simple but hard: replacing assumptions with evidence and individualized care planning. Dr. Carey walks us through the research and the real-world clinical changes, including growing openness to interventions like feeding support and selected cardiac surgery, alongside the essential role of pediatric palliative care teams that support families no matter what they choose. Nick shares what it’s like to lead SOFT in a moment where parent stories and clinician collaboration are accelerating change, including practical resources like trisomy 18 and trisomy 13 booklets, birth plans, and peer mentoring.

We also get honest about why inconsistency still happens across hospitals, how bias and ableism can shape counseling, and what genetics professionals, OB teams, and neonatal providers can do to deliver accurate, balanced, up-to-date information from the first phone call. If you care about disability equity, patient-centered genetics counseling, or improving prenatal diagnosis experiences, this conversation is for you.

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Genetic Support Foundation: https://geneticsupportfoundation.org/

Lettercase National Center for Prenatal and Postnatal Resources: https://www.lettercase.org/

Transcript

Welcome And Why This Matters

Speaker 4 0:04

Greetings and welcome to the CODED podcast. I'm Katie Stoll, Executive Director at Genetic Support Foundation.

Speaker 3 0:09

And I'm Dr. Stephanie Meredith, Development Director at the Genetic Support Foundation and supervisor of our letter case, National Center for Prenatal and Postnatal Resources.

GSF Updates And Ways To Support

Speaker 4 0:19

Today we're focusing on a critical and evolving conversation in genetics care, how we support families receiving a diagnosis of trisomy 13 or trisomy 18, and how we work together to make sure families get accurate, up-to-date, and balanced information about trisomy 13 and 18 and the support that they need. Of particular concern is the challenging and prevailing narrative that these conditions are lethal or not compatible with life. We're joined by two wonderful leaders whose work has helped to shape both the clinical and advocacy landscape, Dr. John Carey and Nick Holliday. But first we'd like to share some GSF updates and related news.

Meet Dr. John Carey And Nick Holliday

Speaker 3 0:52

So at GSF, we obviously really care about disability equity and also making sure that people get the clinical care that they need that's sensitive and also the patient and provider education. So as part of that, we've been doing working on our chondroplasia PCORI project, which is really where we're diving into discovering what the research priorities are of people with achondroplasia and parents of children with achondroplasia and just really making sure that their views are represented in the research space. And then coming up, we also have some fundraisers. We have our DNA dash that's going to be on June 13th, where you can pick the different activity that you would like to do, build your own team. We will be raising funds for all of the different projects we do between clinical care, patient education, and advocacy. And on Mother's Day, we will be raising funds specifically for our patient education programs that send out patient materials to families learning about different genetic conditions. So we hope that you'll join us. We rely on the support of our fans and we we appreciate all of you. So thanks so much.

Speaker 4 1:55

So today we're honored to welcome Dr. John Carey, a globally respected clinical geneticist, educator, and advocate whose career spans more than four decades. His work has helped to shape modern medical genetics from education to compassionate family-centered care. He was recently named the recipient of the ACMG Foundation's highest honor, recognizing the lasting contributions to the field. He was editor-in-chief of the American Journal of Medical Genetics for about 16 years and also helped with founding the Support Organization for Trisomy SOFT in 1979 with Kris Holliday, whose daughter was born with Trisomy 18. And in a full circle moment, we're also joined by Nick Holliday, the first executive director of the Support Organization for Trisomy, and now the president and CEO of SOFT. Nick is the founder's son and also exceptionally capable nonprofit leader who grew up with a deep commitment to families and is perfectly poised to guide SOFT's growth, expand support pathways, and strengthen partnerships with clinicians nationwide. Together they represent a unique and long-standing partnership between genetics professionals and family-led advocacy, one that has helped redefine what support can look like for families navigating trisomy 13 and 18. We're very proud to be working with Nick and Dr. Cary on a number of projects, including a new peer mentoring program for parents receiving a new diagnosis of trisomy 13 or 18. So today in this episode, we're looking forward to talking more to Dr. Carrie and Nick. We'd like to talk more about how the narrative around Trisomy 13 and 18 is changing, the role of genetics professionals in shaping that narrative, how advocacy organizations and clinicians can work together, and what the future of compassionate family-centered care can look like. So thanks for joining us today, Dr. Carrie and Nick.

Speaker 1 3:31

Thanks for having us.

How SOFT Started Before The Internet

Speaker 3 3:32

Wonderful. And this is so exciting for me because I've known Dr. Cary for many years and was so excited to see you get this very well-deserved award. You know, you've been part of this field now for over four decades. And we're also there at the beginning of Soft. I mean, really partnering with families to make that happen. So can you take us back to those early days? What did families experience then and what gaps did you recognize?

Speaker 2 3:59

I moved to Utah to join the faculty in August of 1979. And when I was a in training, a fellow resident and fellow at University of California, San Francisco, I did meet a family of a newborn with trisomy 18. It struck me then that there seemed to be some difference about around the way we discussed trisomy 18. And I didn't even think of lumping trisomy 13 at that time in a different way than other syndromes that involve multiple congenital anomalies. I just was struck by the difference and by sort of the lack of knowing what to say to this young family I met in the newborn ICU, probably around 1978, is my guess. But I moved to Salt Lake City and Bruce Bueller, who was the geneticist there, who really recruited me there, knew I was interested in syndromes, if you will. And so he said, Well, there's a family I want to refer to you. I'm going to see them next week, so maybe I can transfer the care to you. So I met Kris and Carrie in a clinic room in the health department on the campus of the University of Utah, sometime in August of 1979. And I don't know, as everybody who's listening knows, Kris Holliday's a pretty amazing person to connect to. And I have to say, we we connected right away, just as a physician developing a relationship with the mother of a patient. I just felt there was an immediate connection. And somewhere in our conversations, and I don't know if it was the first time, probably was the first time, we did have a conversation that families of children with trisomy 18 could really benefit from meeting other parents and there being a support group. So we had this conversation quite early, I think even the first visit, about the idea of creating an advocate. Really at that time, it would have been parents talking to other parents. And from that, Kris already had connected with two other parents. And so we had had these three mothers already together, whether it was that first visit or soon after, I offered to write a letter to the membership of the American Society of Human Genetics. And at that time, I don't I don't even think I had to pay to get the membership list, but like you would now. But I did write a letter, old-fashioned. Snail mail sent the letter. I think I had a secretary help me to address it. Maybe they gave me a mailing thing. I don't remember that. And I sent a letter sometime, probably September, October of 1979. I don't really know. Kris and I have chatted. I don't really know how much that led to families that were supported, what were referred to Kris. I suspect to some. But I think once once she connected with these two families, again, there was no internet, everything was phone calls, everything was on mother's kitchen tables. Somehow Kris, the word got out, probably combination of the two mothers, and soft began. And so in the spring of 1980, in a local center here, neighborhood center, we actually had a meeting of five families of trisomy 18. I recognized Kris and I's conversation that there was a lot of similarity to the challenges in Trisomy 13. And I had met a family when I did a clinic not very far from Salt Lake in Pocatello, Idaho. Pat Pat Farmer is her name. I met her in clinic there. I saw her son Joey, Joey Watson was his name, connected them with Kris. And somewhere along the way, she met another family with Trisomy 13, or I did in clinic, I don't remember, but now we had seven families. And that was the first meeting. And at that time, uh, you know, in the history of, let's say, genetic advocacy, the eventual founding of the alliance a few years after that in the mid-80s, there really weren't very many support groups around. There was the Down Syndrome Congress, and eventually Stephanie knows the Down Syndrome Society, that's interesting to always know how those groups spin off from each other. But the Congress, it really in the mid-1970s, I knew about the Congress, but I um just groups like the Prototy Association, the Angelman Group, all started around those early 1980s, and SOF was right there with them. Again, all pre-internet. Going back to your question, so at that time, the idea that one would have for surgery in trisomy 18 or trisomy wasn't even fathomed. I mean, it wasn't even on what our radar screens. In fact, as Stephanie knows and other listeners know, surgery in Down syndrome really started in the 70s. And when I got to Salt Lake City, I was pleased to see that our surgeon there, and there was, I believe, only one at the time, what was actually doing total repairs of atrial venturcur canal defects. So we were just starting with surgery in trisomy 21, at least at primary children's in late 70s, early 80s. But the idea of surgery in trisomy 18 wasn't even in the same area, the same area of thought when in the late 80s, when Bonnie Beatty, genetic counselor I worked with for years, still doing a lot of work in the field, Bonnie and I collaborated with Kris and Soft and wrote a paper that was published in 1994. In that paper, two of the families had heart surgery. And that was like the first time it even came up. At that time, when I would meet families eventually at the conferences in 1987, the first conference in Salt Lake, when I would meet families, the idea of a surviving child was so different than it is now. Then it was the children who didn't have, we would have thought at the time, the central apnea that took so many of their lives. Now it was the children who probably didn't have the upper airway problems that now we're recognizing and could treat more easily. But at that time, I used to refer to this in a way to be respectful, but in a way to think about it, I would refer to this as the 5%. That is the one in 20 children who made it to the first year of life, even though they had almost nothing in the way of what we would think of as intensive care. No one was ever traked at that time. No one, there were barely home ventilators for any children who left the newborn intensive care unit. So it would be the kids who who made it without needing any sort of special care. So it really was a different time. So lethal and incompatible with life, those weren't terms that were used at that time in the 80s, because there was almost no need for the professionals to apply them, because there was really no extra care that would occur. When we had the SOF meeting in 87, we saw that there were families who worked with their doctors, worked with their cardiologists, and had some additional care that occurred, but you would rarely have thought of, okay, well, we'll, at least in, you know, the way I would see things. So now when we talk about, and this probably started happening around 15 years ago, where we will say to families, well, there are really kind of two options, either prenatally or postnatal. One option is full intervention, all intensive care, and if necessary, discussions about surgery, including cardiac or pure comfort care. And what's really fabulous now, and really for the last 15 years or so, is that we have these outstanding, compassionate pediatric palliative care teams, hours at primaries called Rainbow Kids, where they pick up the support of those families no matter what they choose, but especially in the pure comfort care path. So that wasn't even a conversation until I would say 2005, 2006, where we would actually say, well, there are really two options. Of course, parenthetically, there's a third option, which is maybe we'll see how things go at birth and families decide along the way. Well, maybe we'll go for a certain amount of care, maybe we'll draw a line somewhere. I mean, all of those conversations gradually evolved as to kind of where we are now, evolved over those really 40 years. I hope that clarified it. Maybe I was too verbose there, but thank you so much, Dr.

Data That Changed Survival And Options

Speaker 3 12:29

Carey. And no, you were not too verbose. It was really helpful to have that review of the timeline and just of the approach that's evolved over time. And I mean, I see a lot of, you know, again, and we've talked about this over the years too, mirroring in the Down syndrome community too, because a lot of that organization started forming in the 1970s. And that was in response to people rejecting the institutionalization model after Willowbrook and seeing how bad the conditions were there. And then, you know, raising their kids at home. And as they're raising their kids at home, they need support from each other. They need more support from the clinicians in their lives. And so I think really where Soft is really unique is having you be part of the Genesis as a clinician, because you see a lot of it where it's family-led, but I've been having you be a partner in that. And I think that's been a beautiful thing. And just also seeing that, you know, how far we've come in the treatment of these children. Because again, I mean, baby Doe with Down syndrome was back in that was just in 1982. So, and that was where we had, you know, the refusal to provide care to a child who had a pretty easily repairable esophageal litresia. Just for the listeners, I know you know Dr. Carey, but making sure everyone knows that reference. And that was just based on perception of quality of life for people with Down syndrome and not because it was an intervention that was a problem that couldn't be fixed. So I think it's interesting to see too, where again, Down syndrome was a condition where the life expectancy was, you know, 15 years old and, or no, it's 20 in 1970 and it's 80 now. And it's it's access to care and supports and services that is that has changed that. So it'll be interesting to see how that evolves over time with trisomy 13 and 18 and what the possibilities are. So I guess that kind of that kind of gets me to the next question, which is you know, how have you really seen that narrative shift in the past few years? And what do you believe are still the most pressing areas of need to support families and children with trisomy 13 and 18?

Speaker 2 14:33

Yes, thanks, Stephanie. Just like you discussed in Down Syndrome, you know, the the baby-doe case, if you will, was transforming and it led to now what we call, you know, the ethics committees at hospitals that work with dubon intensive care units. Eventually they were led by neonatology, not just by what at first was the federal government. And then, of course, other changes occurred in our culture about disability, even though the the narrative uh still exists about disability and ableism. But a number of events occurred in Trisomy 18 and 13, both. I think there were a few papers that appeared in the uh 80s and 90s that kind of led to the idea: well, no matter what you do, these children are gonna die. So there's cardiac surgery is not something we we should even be pursuing. A paper in Lancet in the early 1990s first used the word hopeless and incompatible with life. It's actually where the term evolved as they were framing. These were Dutch doctors writing in a British journal, framing in Europe the idea uh of this narrative, you know, of this approach, if you will. But what one of my mentors, Dave Smith, who I value and treasure tremendously, was on the second paper on Trisomy 18 and the first paper on Trisomy 13 as a co-author. In his book, he actually recommended for years till till it was changed uh in the 1990s. He recommended when the when the diagnosis is made, the author recommends withholding all measures to prolong life. So all of that sort of developed, I think, a unique culture around trisomy 18 and 13. But then in the mid-2000s, a paper appeared in Japan, published in the American Journal of Medical Genetics. I'm proud to say. I wrote an editorial to accompany it, and Dr. Kosho In Nagano Children's Japan treated 24 children with full intensive care. And so one-fourth of them, or six of the 24, survived the first year of life. Small numbers, but dramatic change. Rather than a median age of death in days, it was actually in months. So that happened. And at the same time in Japan, there started to be an openness about cardiac surgery. And so between 05 and 10 or 11, 2011, there were about six papers published on cardiac surgery. Small groups, like 12 children, 13 children. The ones who had surgery were surviving more compared to what they would have thought, although there really wasn't a comparison group. And then we started to see papers come about where children were being hospitalized more, and there was actually showing we weren't doing surgery for this or that, including gastromy tubes or trachea, and now they're increased. So a paper around 2012, another paper in 2016. So all of that was happening. And then in 2016, two papers appeared: one in the American Journal of Medical Physics, one in JAMA Journal of the American, that both show that survival and these papers went from around 5% to around 15%. A little bit more in Trisomy 18 survival than 13, but around numbers. And so that was a that was a fairly striking series of findings that survival, you know, then words like lethal and incompatible were just completely inappropriate. They were wrong. They were not apt. Then, in kind of response to that, there started to be a, I don't know if response or like reaction, started to be a papers appearing that were surveying doctors, OBs, neonatologists, cardiologists, suggesting that still more than the majority felt that these conditions were lethal, it could be out with life, and that the best approach was non-intervention. And then, and here I follow the lead of Dr. Fauci, follow the data. And then we started seeing in the last decade, 2016-17 editorials, articles appearing that saying, now, now, now wait a second, these terms don't really apply. Look at really what's occurring. And then 2017 to 19, we saw four papers with more than 60 patients having cardiac surgery showing that the kids went home and they survived more. And so, then, of course, in the last five years, we've gone from you know, we don't do surgery at this particular hospital to hospitals all over the United States, for originally led by Children's Hospital in Omaha, Dr. Hamill there when he was there, moved from there about five years ago. But leading the opening the door to cardiac surgery really being an option. And then the American Association of Toracic Surgeons came out with a consensus statement saying surgery is reasonable in mild to moderate lesions. Well, we don't have any data on the more severe lesions. So it all changed, Stephanie, Katie, and Nick, because of the data changing. I mean, I'd like to say, I mean, I know that Soft and other parents, that Soft and parents around the country on websites and talking about their doctors doing this and families learning the diagnosis and seeing Soft's website or seeing another parent's blog report, knowing things were different and they had options, all of that came together, I think, to see this change. There is, however, still inconsistency around the country in terms of families feeling like in the right situation, they're still given the option of cardiac surgery. So there's still inconsistency. But we are seeing the idea that if a surgeon feels that he or she can't do the surgery, they're offering families the choice to be transferred. And even in 2019, a baby in our hospital at Primary Children's knew about Dr. Hamill. And rather than having a palliative procedure, she advocated for the baby being transferred to Omaha, and we transferred that baby. Now our hospital is offering surgery in babies that they feel will benefit from the surgery. Definitely have seen these changes. There still is, though, something hanging around our culture. I say our culture, our pediatric, neonatal, prenatal culture that says there's something different about trisomy 18 and 13 to where there is a hesitation to treat, feeling like it's better for the family and the baby for us not to treat and to go down the pure paleo care model. So that that's still there. We're still seeing inconsistency, still a lot of work to do, but the narrative is changing. So with all of that, Stephanie, I've forgotten your second question.

Speaker 3 21:40

That actually was the question. You answered it exactly because it was how how has the narrative shifted and what is still most pressing? So I think you covered both of those things.

Speaker 2 21:55

Maybe I'll close with this point by the really seminal paper in pediatrics. Last July, the American Academy of Pediatrics report on guidelines for care. And they were specifically saying that the diagnosis should not inform care. What should inform care are the individual challenges, medically, issues that are surround that particular child. And children with trisomy 18 and 13 should not be treated differently than any other child with medical complexity. And I think the American Association of Thoracic Surgeons report from 2023 and then the American Academy's paper in 2025 both show that those that don't see that change, or at least sitting down with parents and saying, well, we do have this other option, you know, accurate, balanced, and current information, who don't see that. I mean, I can honestly say they're behind history. History's already going in that direction, if that made sense. I hope it did.

Speaker 4 23:00

Yeah. It takes some time for some people to catch up, I guess, with the with the data and the guidelines. Unfortunately, you do hear a lot about inconsistencies, even within the same institution sometimes, how different clinicians are approaching what's possible in terms of any treatment or intervention for trisomy 13 and 18.

Speaker 2 23:19

You're totally right, Katie. And that that's where why when a lot of my uh friends and colleagues at Soft came up with the term trisomy-friendly, that's why for certain hospitals, why I had difficulty with that term, because within an institution, the traditional view is still very much entrenched in the same place that might be saying, you know, that they're offering cardiac surgery. So I can't speak for Boston Children's, but I can speak for my own institution. I can speak for what Dr. Hamill, who offered to do surgery in a family whose insurance would cover it. They could be transferred. What he always reviewed the echoes and all that before he accepted. And he only actually operated on a third of the children who he was asked to review. So he wasn't too he some sometimes he knew that the best option given that child's problems, challenges, physiology, was that surgery was more risky than not. Even in uh his institution, even in my institution, there are differing views, as we would expect.

Leading SOFT Through Rapid Change

Speaker 4 24:24

Yeah, every patient is unique, every situation is unique. Maybe this would be a good point to just bring back the really crucial role of Soft and organizations like Soft and supporting families with all of these evolving changes to care for babies with trisomy 13 and 18. Nick, you stepped into this leadership role at Soft during this really pivotal time. And as Soft is growing more, as all of these, you know, developments are happening in care for Trisomy 13 and 18. Maybe you could speak to us a little bit about what that means to you to be leading Soft at this moment in time.

Speaker 1 25:00

Yeah. First of all, when I get a chance to have Johns share his thoughts, I always like to. So thank you, John, for sharing all that. And thank you, GSF, for letting me attend. One thing that I love right now is the fact that there is this monument. There's like an evolution and it's been slow and now it's exponentially growing. I don't think I have data to back that up as hard fast as what John has shared. But uh what I've what I've noticed is within my role, one of the things that within change the narrative that we really want to focus in on is making sure that every family, no matter where they're at, is receiving accurate and direct information. One of the main projects, my first project, Katie, that I had when I first started was this Trisomi 18 book. I'm gonna hold it up. I don't think my screen's blurry so you can see it there. I didn't write it. John wrote it. A few other really informed doctors helped put it together, and then we had parents contribute. And so it's a really good opportunity that uh families and medical professionals have now have this guide. It's not very big, it actually has like birth plans in it and other things that can really help families. And then we came out with the Trisomi 13 one about uh a year later, and so really cool stuff there. So for me, Katie, I think one of my main objectives is to make sure that families that this narrative that we're trying to help change, it's changing really quickly right now. Cool thing is it's not just uh John and a few others, you know, uh, or a few parents, it's now a lot of parents are are saying and sharing pictures and talking this through. And then there's a lot of medical professionals. I think of different hospitals are creating their own little collabs and their cross-department meetings and cross-department divisions so that when they're preparing for children that are diagnosed with trisome 18, it's not like a state of panic. They know exactly what to do. Here's our procedures, here's our policies, here's what we're gonna do. These are the things we can do, these are the things that other hospitals can do. And so it's just becoming a really great opportunity. I had a chance to sit and have I played matchmaker between two hospitals. I'll leave their names out of it, but one hospital is kind of having these cross-departments, and another one was talking to a parent, and and this parent's like, hey, let me put you in touch with Nick, he might know some things. And so one hospital was starting to talk hospital lingo to each other, and they're changing notes. And so I think that that excitement is growing. So, Katie, I think the the main thing for me is can I be an instrument to make sure families are getting really good information at the moment they need it so then they can be empowered to make decisions that are best for their child. Because just like we're talking about every family has those individual needs, I think the parent with their medical team, though that joint conversation is necessary because those are the individuals in those rooms will be able to make the best decision. So that's what we're trying to do here. So that's what I'm excited about.

Bridging Advocacy And Clinical Care

Speaker 3 28:07

Thank you so much, Nick. And it's been so exciting for me to see all of that development too, because I know uh Dr. Carey and I talked for a number of years about wanting to get booklets available for try for parents of children with trisomy 13 and 18. And I was so happy when I saw those books come out and they're just beautifully done. I think that's really one of those first key pieces in making sure that families are getting that accurate, up-to-date information. And so I guess that's kind of my next question, and something I know you and I have been talking about a lot. But Soft has been emphasizing building bridges with medical professionals. And why do you how do you think that can really help in the movement toward improving those diagnosis experiences for families?

Speaker 1 28:54

I'll go first and then maybe John can pick up from me and talk more eloquently. Uh, just from my perspective as in kind of like layman's terms, I usually like to say I'm the one without the PhD, but I'm the one that can uh annoy people to get projects done, so that's why I fit my position. And so to me, the bridging that gap is so important that medical professionals, their insights, their boots on the ground knowledge is a necessary element. And we have just like John, he's a perfect example, he's just kind of led the way, and there's a number of other medical professionals that have just spent a little bit more time or even a lot more time either rubbing shoulders with families, seeing kids with trisome 18 or 13, and so they just it just they they've interacted more and they've seen, you know, John. You were saying we don't have a lot of studies for children probably over the age of five or ten or even thirty or fifty, right? So we have some some kids that are pretty old in our in our cohort, if you will, but there's not enough data to be like, you know, here's a medical journal on these stages. But medical professionals that are seeing these kids, talking to them, talking to the parents, getting that interaction, they can then go relay. And the one thing that I've seen, and I love this about medical professionals, and I'm glad they take care of me, and I love every one of you, but you guys kind of speak their own language, right? And so I think it also makes it real easy when medical professionals from like our um medical committee that John has cultivated over the years, they can speak in a way that can just translate a little faster to a fellow pediatrician, a fellow geneticist, and that conversation can really explode their thinking because there's so much more in common because they have this baseline knowledge. Just like a parent can speak, just a parent to a parent conversation has that opportunity, right? To be there. The same thing a medical professional to a medical professional. And so if we can kind of get all of those pieces together, in my mind, that's what's driving this excitement and this uh additional just this growth rate is going crazy. So, anyway, that's my little analysis. It's unofficial, it's more anecdotal. So, John, maybe you can share a little more scientifically what you're seeing as happening.

Speaker 2 31:10

Well, I think that bridging this gap, if you will, or implementing what we know now as the evolved change data is the biggest challenge. Some of that is how do we change practice? How do we change practice? And Stephanie is an authority on this topic at the first diagnosis encounter level. That is, the genetic counselor or the OBGYN or the maternal fetal medicine doctor telling a family often over the phone that cell-free DNA showed a high risk for trisomy 18 or a risk for trisomy 13. How do we bridge the gap at that particular point? Immediate reaction, education. You know, we we need to educate the professionals in all these disciplines, you know, even at fetal care centers, but also in the regular OB world. But we know that's easier said than done. You know, we we can have examples of uh everything from smoking to how comes C routine like C-section, selective C-section frequency hasn't decreased, you know, even though all the all the data shows otherwise. So it's this this idea of changing views and attitudes are one thing. And then let's say changing, and I don't mean to sound self-righteous or overly enlightened here, but changing the medical profession in particular, I think genetic counselors, at the risk of sounding like I'm jumping on some kind of bandwagon, Katie. I think we're ahead of the physician culture in communication skills, as that it's so important right from the start. What we would call, you know, bedside matter, right? And the the the old-fashioned way. But right from the start, talking to families, talking in a way that has given up the paternalistic view that certainly existed even when I was in medical school and residency in the 70s. It's changing, but there's still something entrenched about it. So anyway, bridging the gap. Some of it is changing the culture. And again, you know, we ableism is an issue here that enters into this discussion. And we're all working together, hopefully, working together for changing views about ableism among all professionals. Jenna counselors have had that conversation, and physicians, changing communication skills so that meeting with a patient and talking to them, building trust, showing value in the case of trisomy 1318, important for their child, all of that is how we bridge that gap. But we but all four of us know how challenging and how how hard that is. We know that there in our conversation today, Trisomy 1318, that there are some grants available from different sources, including what's called the Trisomy Collaborative, to provide studies that show one can get the primary messages to doctors early on in their communication. I'll I'll take Stephanie's, I think it was your PhD paper as an example, where right on that first conversation with the OBs was so important. So now that was in Down syndrome. How do we, right? I'm not not trying to throw it back to you, Stephanie, but how do we actually bring that into the OB and maternal fetal medicine conversation from the beginning? I mean, some of it is working with the society, some of it is getting involved in medical school and teaching. But again, it's that's somewhat at the grassroots level, but maybe we need to make it be a national priority for whether it's Down syndrome, all that Stephanie does, and all the groups she's involved in, whether it's, you know, Katie, it's at the at the foundation level, wherever it is that we're both educating, improving, and increasing communication skills among medical students and doctors as they train, but also not only the skill of knowing how to build trust. And again, easier said than done. But but again, it's not just the communication skills, it's also the change in culture. It it reminds me of something the four of us on this call, not maybe some of the listeners have heard too. We heard uh a nice talk at our recent meeting in Chicago where Dr. Callahan, neonatologist from CHOP, looked at the papers that surveyed doctors and other professionals about trisomy 18 and 13. And she showed that the tone of the answers changed after 2016. There was a more positive view toward openness to care in the papers published after 2016 than those that were before 2016. And I alluded to them earlier that there's a body of literature surveying neonatologists, pediatricians, whatever, where the majority still felt the conditions were lethal. And what Dr. Callahan saw was an actual change in that. So we we know that there are some attitudes changing. We know that the AAP report will have its effect. We don't know how long it'll take, but will have its effect. But again, I think I'm I'm going into the cloud of verbosity here. Uh I would summarize by saying changing the culture, that's one side, but it's entwined in changing the way we educate our medical students, residents, and genetic counselors from the start.

Provider Responsibility And Cultural Change

Speaker 3 37:00

And I'm gonna jump in too and just echo that because that is those were a lot of the findings that I had. I had, you know, a couple of papers that came out. One was from the National Center for Dignity and Healthcare for People with Disabilities. That was the first project I got to work on, and then working on my dissertation, but just realizing that this is actually an issue that spans across different conditions with how the diagnosis is delivered. Down syndrome, spinobifida, trisomy 13, 18. I think the difference, one of the key differences with trisomy 13 and 18 is how life or death it is, which you know, in the other conditions, it's more so the emotional harm that happens when it's when it's not done well or when people don't get the supports and services that they need. And there are downstream effects of that if they don't get connected early on to some of the supports that can help their children thrive. So I think that where I see a real need is like you were saying, that ableism and bias that creeps into those conversations and helping to identify it as a more global issue across genetic conditions and then incorporating that into training and also having uh funding for federal grants that that helps to pay for that training and recognizes all people with disabilities as a minority underserved population that experiences discrimination in different forms. And so those are some of the ways in which I think it's really important. But I also think it comes down to those individual interactions with the, for example, the provision of accurate and up-to-date information and the fact that you have that available now through software. It can be accessed by any clinician so that they have it to aid in their conversations. What has been truly impressive to me over time has been Dr. Carey's commitment to partnering with families and doing that over the years, and then also mentoring generations of genetics professionals about how to build those relationships with patient and family communities. What I would love to find out is what your idea is about the responsibility that providers have to shape the broader culture around genetic conditions and recognize that it's beyond that diagnosis, it's beyond, you know, the karyotype that shows up on the screen. And honestly, Katie, an incredible leader in this area too. So really I'd love to hear from both of you. Like, what do you think providers can do to shape the broader culture around genetic conditions?

Speaker 2 39:34

I'd love to hear what Katie has to say too, uh, as a fellow geneticist, but that that is a profound question. And it has it has multiple layers. I'm still thinking about it as we go along. I mean, just going back in my my own history or my history toward the view. Genetic conditions, I think, have an existential root to them that's different than other human medical conditions. And some of it is that it's it's more innate, it's more intrinsic. Maybe there's less responsibility for a cause because it's that way. But on the other side, as Katie knows in talking to families, people will often feel in a genetic condition, what did I do wrong to make this happen, even though it might be an error in the way chromosomes divided or a gene that went back 25 generations that no one would know about still. There's something about the innate nature of genetics that make them different than something like we think we could prevent by not smoking, or we can take care of something in our house, or we can try with great difficulty in getting rid of pollution, all you know, avoiding infections, all sorts of things. Here it's different. So I think genetics comes with that right from the start. And so we, as clinicians, Katie and I and others, we have we have to be aware of it in just that families bear some of that as they learn about their, in the case of their family member, often in our we're talking about children most of the time, but in it, but that being the case. The other aspect is that not all, but most genetic conditions that we will talk about will be classified as rare. In addition to, let's say, its intrinsic nature of being an innate condition, like, are we responsible for this? They they also are rare. And so being rare also has its own cloak, if you will, its own aura around it. The genetic conditions can be multi-organ related, you know, like a syndrome, or they can be a single organ, mostly single organ, like something like polycystic kidney disease, but still it's this rarity that also has. I don't know if I'm answering your question, but it has to do with what I think make genetic conditions in having these conversations about helping families and and care more unique, more novel. But I love the hear Katie if you you can embellish or add to that.

Speaker 4 42:04

Um I guess one thought um that comes to mind, Stephanie, you've said this about medical professionals to me many times that you know people don't go into healthcare because they want to traumatize people. But I think oftentimes healthcare providers don't know what they don't know. And that was definitely true for me as a new genetic counselor. And I feel really fortunate that my first job, I was only genetic counselor. So I worked in both the prenatal context and the pediatric context. So I saw families kind of, you know, at these different stages, I guess I built some connection to people who had lived experience with genetic conditions that kind of I think gave me a different perspective than I had when I started as a new genetic counselor and really had no experience, you know, beyond what I learned in textbooks or my limited, you know, training in graduate school. As I think we're talking about OB providers, which oftentimes are the first point of connection for families of the prenatal screening result or a prenatal diagnostic result, like they may not have ever interacted with a family who had a child to try somebody 13 or 18, right? They might not have that perspective to connect with at a moment. So I think recognizing that's really important. And I think those who, you know, those in the field who do have more of those connections and experiences can maybe help build that bridge for other clinicians. I I think that's one crucial thing about organizations like Summuft and you know, the the family stories that Nick, you'd share and other, you know, families that are connected and some of share it's so it's just it's so important for changing the narrative among healthcare providers, which will then hopefully transfer into better care for families. Stephanie, I don't know if you want to share it all what how you get the word out with with your books to the to the OP providers in your life. But you know, I think making making those connections is is pretty key.

Legacy Value And Family Stories

Speaker 3 43:54

It's hard for me not to actually get emotional seeing Dr. Carrie and Katie because I think that. You both are talking about those individual connections you've made with patients and families, which is so key. But I think what you both are too humble to say is that you also see that beyond those families that you care about, you also care about the broader community beyond them. And you see the exponential mirrors of people and that you want to get involved and you have gotten involved in ways that exponentially impact communities. And I think that's really what I also hope the other geneticists, other providers are inspired by about you is that you not only have the capacity to influence individual people's lives through the way you practice and the way they see their children, their lives, but also to impact your community and the communities of people living with those conditions. And even having one advocate like Dr. Carrie ends up sending ripple effects. And I think that's really to me the heart of your lifetime achievement award. And I also look at Nick and I see my children who grow who've grown up with a mom who's been active in advocacy, and that you live and breathe it and you know what it looks like. And you're in that position too, where you're having those ripple effects. So I guess I kind of want to jump to my most fundamental question for both of you, which is what do you hope your legacy will be moving forward and what people will remember about you? And then specifically Nick, too. How does it feel carrying forth your mom's legacy? So that's for both of you.

Speaker 2 45:40

It's hard to talk about what one's legacy in a way that is also humbling because I was humbling by receiving the Remoyne Award, but I'm quite proud of it as well. Quite proud of the language around it that connected me with families. And that rather than, let's say, my knowledge of single gene changes or non-disjunction in Trisobic, that what was un underscored was that because uh I couldn't be more proud of anything than that. When I was first at Soft, and of course at some point, Nick, yeah, you you you were you were born in the first already in '87 by the first meeting. I forgot how old you were five or something like that. Anyway, when I went to the first SOF conference, I said to my genetics group the following Monday, that was the most, and that now I'll say transforming. I didn't say it then, but that was the most incredible experience I've ever had as a physician and as a human being, was that first meeting. And I think I didn't feel like I could know what to say to everyone because there wasn't like we had some some treatment or some magic bullet around the corner. Every meeting I would go to, I would actually say to myself, Am I giving people false hope? Like, am I doing something that's not beneficial? Now, I feel like my voice might crack, but I've realized I was not just from the feedback, I couldn't explain it. How did families who had older kids would try some 18 like Carrie at that time, and families who had lost their child would try some 18 or 13 combine together. It was so magical that I felt like words might uh might, you know, tamper with it. But I would go to board meetings and I would say, well, like I don't want to overly professionalize this group. I'm not gonna intrude. I want to hold back when I can. But but I eventually got more involved in what my opinions would be. In other words, I felt like I wasn't a parent, so I didn't have the same kind of voice. But here's what I was trying to build up to say. Um, somewhere along the way, and I don't know whether I heard Kris or someone else say it, but it was all about the kids. There was something about children and their families at this meeting. And Leslie, my wife, experienced it early on and had the same sense. You you it was it was not something you could put into words. That that was the root of my feeling that I'll never leave this group till I can't go anymore. Whether they'll just have to bar me from the door. But it was something about that. I'm not sure I totally answered your question about what the legacy would be, but I guess the legacy legacy of even being thought of as partnering with this group, and that was something that's enough for me.

Speaker 1 48:32

Let me add to John's legacy real quick. Um, I've had a chance to hear some stories recently at ACMG in March, just a few weeks back. I think of our own family where John kind of lives in the importance of the holiday family. Um, and I'll get to that in a second. But I think to me, John, the most important thing that I hear from others is you've created a place and shown an example to your peers, and a lot of them are picking that up and it's growing. That you value the child, that you value their son, their daughter. It's the way that you speak, the way that you the the story I just is in my mind right now is the doctor was watching you. He was an intern, I'm probably butchering the name, but he was in his like fellowship or whatever you he had a hard experience in a previous hospital in a different internship where he was going through rounds and the experience with a child was was with a trisomy child was not very good. Parent, it was just it just was not, it was confrontational. And then with you, he saw how you interacted, how you gave love, how you gave moment. This child didn't live very long, but you just value. So to me, you are part of just our our family because let me say this, Stephanie. Let me answer my question this way. Is uh awesome as my mom is, my dad is equally awesome, but he's quiet in public unless he's watching a basketball game. So the two of them have a legacy, a legacy of courage, a legacy of just taken every day just with hope. They lived through the weekend in San Francisco with Carrie at home. They thought she was gonna die any minute, hours led to days, and then after the weekend they went back and said, How do we feed her? She's gonna keep living. Let's at least feed her. And Carrie lived on. But I but let me say it this way: um, in our family, the legacy my mom has is that she she creates value as well to the personal touch. She listens to parents. I remember I was probably 12 years old and I needed to talk to my mom, but there was kind of a line of people that have maybe their first time at conference or just wanted to talk to Kris. And so it's an it's not a reception, but it's just people are mingling. And I remember I felt obligated to get in the line to talk to my own mom, and she tells that story regularly because what I saw and what I've taken from her is that I hope that I can show that attention to that person when we have those moments. But let me pivot real quick. The second thing about the holiday family that Helen Kris have this dynamic like none other, they're wonderful parents, but you never we would joke that like I would say I'm my I'm my parents' favorite. My mom loves me the most, right? But to this day, as a 40-year-old, 40-something-year-old man, I really don't think I my parents have a favorite. Uh, there's six of us, and I think the legacy that all of us siblings want to hopefully my parents can tend continue, is that it's Carrie that just she was nothing more than just another child with trisome 18. But Carrie's legacy is that these children like her have value, and so that's why John is so important, is that they are wonderful kids. And then when you talk to these parents, and I've had a privilege to do podcasts like this with parents and hearing the siblings and the moms and the dads, and just there's so excitement for just all the variety of victories, you know, different milestones are wildly different than their other children, but they're just equal to them, and whether they were minutes or hours or days or years old, those parents and those families value those minutes, whatever it was, right? The years. So I to me, thinking of John, John, you allowed so many great people, so many great families to find that peace. And so I appreciate you. So uh again, uh hopefully that can be concise down to just John, you're amazing, you're awesome, and thank you for that. So your legacy is beyond, and I that ripple effect is gonna last generations because uh we're already seeing it, just like you, Stephanie, with kids and younger siblings and brothers and sisters, there's gonna be this evolution of understanding. And so, what I hope the legacy is is that although trisomy 18 and 13 is rare, I feel that more like it's gonna grow where it's not gonna be so wait, what is that? And we and we have to explain it in a roundabout way of what these conditions are. Because we have had enough children, enough siblings, enough cousins, enough friends, and enough stories that don't just disappear, and then now these conditions are just as known as any other medical complex condition. So that's what I think, and John, that's you at the forefront. You're like the the center of that opportunity of growth. So again, value, care, and just an awesome opportunity to make these children all Carrie is now no more important than Stacey Van Haraway or Dawson Bradley or or you know, Akaya. And I I could go on and name more and more kids and just wonderful people. So thank you, John, for making those children valued and that they pass a legacy kind of to their own little trisomy brothers and sisters. And so I appreciate that. So, John, that you're too humble and meek because that's who you are, but your legacy is amazing and it's gonna live for a long time.

Speaker 4 54:06

It has been such a joy to have you both on the podcast and talk to you today. Thank you so much. One last question for both of you what gives you hope right now and for the future?

Speaker 1 54:17

I don't want to have the last word because I want John to. What gives me hope is just the stories are being told. These conversations, I mean, the this podcast alone of just bringing up and having opportunities to talk about it. So more conversations, more questions, more studies, more reports, more. Could we do this? Could this happen? You know, more cross-department divisional hospitals are so big. I was walking through one just the other day. They're so big that, you know, they there's so many moving parts. There's a lot of things and a lot of people needing help. Just having meetings, right? To say what should we do when this happens? Man, that would be that's the most important thing for me, is just those levels of conversations. On a personal side, as soft's leader, I want more family conversations. We want more meetings. We have our annual conference. Maybe we can have two of them. Maybe we can have like sub-committee, like sub-meetings in different parts of the country. I personally hope that this leads to more families connecting with more families. And that's my personal goal as the leader of Soft.

Speaker 2 55:21

What's given me hope for the future is the very large number of investigators as well as families together who have a deep interest in Trisomy 13, 18, and the families whose family member has those conditions. Go to Soft invite people to come to speak every few years, but suddenly with and I again some of it you know the increase in number of studies, but so many people, even around the world. I had an email from someone from South Africa today. Nick knows another person in South Africa. The community of what I would call scholars and people who care and who are interested both academically and personally, emotionally, in these conditions, which I couldn't have said 10 years ago, gives me gives me hope and excitement both.

Speaker 3 56:15

Thank you both so much. I just have such an incredible amount of respect for both of you and all that you've all that you've been able to um shine the light on for these families and for individuals, the kids with trisomy 13 and 18, increasingly adults, that's how as that has happened and and the families. It just means the world. And and I'm very hopeful too with all of these new professionals who are interested. And so my kind of shout out is I want to encourage other genetics professionals to actively partner with family and advocacy organizations on co-creating resources, improving communication, improving care to ensure that all of the improvements are happening that can happen and that people are feeling that support and through throughout the experience that they need. So that's my advocacy call to action. Just to keep following Dr. Carrie's example and Nick's example.

Speaker 4 57:16

Yeah, and I guess to add to that, I would just really like to encourage our listeners, especially any genet counselors, clinicians that might be listening to learn more about support organizations like soft, build those bridges because those bridges with advocacy groups, patients, and families are going to help you provide better care and partnership to the families that you're supporting. Increase the connection to this important work that they're doing. And I just want to share my gratitude to you, Dr. Carrie, Nick Holiday, for being here with us on this podcast and for all of the work that you're doing to help support families and clinicians. Thanks for being here.

Speaker 2 57:55

Thank you for inviting us.

Speaker 1 57:58

Yeah, my pleasure. And your call to actions, if anybody wants to help an organization, I got lots of volunteer opportunities. Just thank you for this podcast. Thanks for inviting us. I appreciate it.

Speaker 3 58:12

Thanks so much for joining us. And in our next episode, we'll continue to explore genetics and some of these ethical issues that we encounter. And we'd love to hear from you. So please feel free to share your thoughts, experiences, or questions with us. And we'll see you next time.