MCH Bridges: The Official AMCHP Podcast

Episode #21: Navigating Prenatal Diagnoses: Fostering Equity & Reducing Harm for Parents of Children with Down Syndrome

• AMCHP • Episode 21

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October is Down Syndrome Awareness Month. In this episode of MCH Bridges, guest host and Lettercase Program Director Dr. Stephanie Meredith reviews some of the findings from her recent study focused on the experiences of parents receiving a prenatal diagnosis of Down syndrome. Dr. Meredith approaches her research as the mother of a 24-year-old son with Down syndrome. Additionally, listeners will gain insight from a recent project aimed at improving support for Black and Hispanic new and expectant parents of children with Down syndrome. 

Throughout the episode, Dr. Meredith uplifts the lived experiences of guest speakers Ayah Ibrahim and Tatiana Salinas, two mothers of children with Down syndrome, and emphasizes the importance and real-world impact of their diagnosis experiences. You will also hear from Katie Stoll, providing the perspective of a healthcare professional and leader of the Genetic Support Foundation on how to best support clinicians and families who receive care.  

Tune in to witness an important conversation between our guest host and speakers as they delve into what advocates and healthcare professionals can do to reduce emotional harm and disability bias and, instead, empower parents with information and support during this critical time. 

Disclaimer: The views presented in this podcast are solely the responsibility of the author(s) and do not necessarily represent the views of the Patient-Centered Outcomes Research Institute® (PCORI®), its Board of Governors, or Methodology Committee.

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Nia Sutton: [00:00:00] Hello, and thank you for joining us for this episode of MCH Bridges, the official podcast [00:00:15] of the Association of Maternal & Child Health Programs, also known as AMCHP. MCH Bridges aims to lift up stories and people from the MCH field by centering community voice and those with lived experiences. [00:00:30]  

AMCHP hopes that MCH Bridges will help our listeners create new connections and ideas, as well as inspire and guide actions that will improve the systems of care that serve our MCH communities. This is the [00:00:45] story of Dr. Stephanie Meredith, who is the Lettercase Program Director at the Genetic Support Foundation and the mother of a son with Down syndrome. 

She led a research team at the University of Kentucky focused on the experiences of [00:01:00] pregnant patients learning about a prenatal diagnosis of Down syndrome.  

Stephanie Meredith: When my son with Down syndrome was born in the year 2000, I was 23 years old, and he forever changed the trajectory of my life and my career. I found out [00:01:15] about four hours after he was born that he had characteristics that made my pediatrician think that he had Down syndrome. 

He had the sandal gap between his toes, and he had almond shaped eyes, and they indicated that [00:01:30] these could be symptoms that he had Down syndrome. And he'd been whisked the NICU, he'd had some low APGAR scores, so they were following up on some of those issues. We had a few indications prenatally, but we didn't get the blood test or amnios, so we didn't know for sure. 

And our [00:01:45] doctor was pretty matter of fact when he told my husband and I together, which was good. It's good when clinicians tell parents together. And he was good about giving us time to process that information. He gave us those characteristics and then gave us some [00:02:00] time to talk with each other and write down everything that we were worried about. 

And I was worried about things like whether kids would make fun of him. Or if we could afford therapies as young parents, because we were both in our early 20s, my husband was still in college, [00:02:15] or if he would live with us forever. These are all normal questions and concerns that people have. They want to know what life is like and spoiler alert, Andy was much cooler than I ever was in high school, which isn't a super high bar to be fair, but he really was cool with lots of [00:02:30] friends. 

He's already moved out part time, uh, with my mom, actually, even though my husband begged him to stay. And as parents fresh out of college, it was a real relief to us to find out that the state covered the cost of therapy through early intervention. I think our [00:02:45] hospital at the time was also really forward thinking. 

They had parents of children with disabilities on staff to offer support in the newborn intensive care unit. And so we had another mother of a child with Down syndrome come in right away [00:03:00] and give us a book at the time babies with Down syndrome and showed us a photo of her son on a bike, which for us was such a normalizing moment to realize life could still be fun. 

We could do things as a family. And so it really helped me to feel supported and to [00:03:15] have a better idea of what life was like. And I was really shocked. Later in the next couple of years when I found out through research by Dr. Brian Scott Coe that I was the exception and that most parents were not getting the level of [00:03:30] support and services that I received and that can be very emotionally harmful for them and lonely and isolating. 

Since I knew what it looked like when it was done well, and what a difference it makes, I was really motivated to help all parents have that [00:03:45] level of support that I had following a diagnosis. And this also motivated the research I've done to find out how those diagnosis experiences are going.  

Our recent [00:04:00] study published this year specifically focused on prenatal screening and diagnosis experiences of parents whose children were born with Down syndrome between 2016 and 2021, because we really wanted to know if the information being provided now is more current. [00:04:15] And we received complete responses from 242 participants, which made it the largest study of prenatal Down syndrome diagnosis experiences to date. 

And one of our partners to recruit these families was the Down Syndrome Diagnosis Network that offers peer to peer support [00:04:30] for new and expectant parents. And one of those peer volunteers is my friend Ayah Ibrahim.  

Ayah Ibrahim: I'm Dr. Ayah Ibrahim, and I am a mother of three, almost four. My third is Emily, and she has [00:04:45] Down syndrome, and she will be four in July. 

Stephanie Meredith: I'm really excited that we're getting to share after participating in the National Society of Genetic Counselors panel together, and wanted to just have you share a little bit more [00:05:00] about your diagnosis experience.  

Ayah Ibrahim: So, we found out rather late, it was probably the closest to a birth diagnosis that you can get without it actually being a birth diagnosis. 

We found out the day before she was born. She kept sticking her [00:05:15] tongue out during an ultrasound, and we were told that they were just for extra precaution going to send us some maternal fetal medicine and a genetics counselor. And we had an extra ultrasound, and that's when they found heart [00:05:30] defects, and they found that she was measuring a little bit smaller than usual. 

Based on those results, the genetic counselor had us in an office and told us that she believed it was about a 50 percent chance that our child had Down syndrome. [00:05:45] It was very shocking for us because we didn't have any kind of indicator up until that point, and we realized it was during COVID. So there wasn't a lot of consistency in our appointments. 

We had to go to different offices with different texts, different [00:06:00] technology, that kind of thing. The way that we were told the news was by someone that didn't know us. Didn't know kind of our journey, our family at all, and immediately after being told [00:06:15] that we were asked, do you have any questions for us? 

And we were still just trying to process the news. My husband and I were both just kind of stunned into silence, really. And right after that, she went down a laundry list. of things that kind of go with [00:06:30] the diagnosis of what things can go wrong, and it was not anything positive. We walked away with a business card for a person that we weren't quite sure who it was. 

Later, we found out that it was actually an organization that helps connect [00:06:45] you to resources. But we didn't have any brochures. We didn't have anything else. And we just kind of walked out of there and had to do our own research and our own questioning of what to do. Overall, I have to say in the hospital, it was a pretty positive experience of people [00:07:00] congratulating us and reassuring us just what we would do with any of our other babies. So that was a good experience.  

Stephanie Meredith: Yeah, yours really is as close to a birth diagnosis as you can get. Mine was four hours after Andy was born. So it was a [00:07:15] surprise to us. I think our hospital was pretty progressive at the time where they actually had hired parents on staff to provide support to people in the NICU. 

It helps to frame the experience when you get that level of [00:07:30] support. So I guess, you know, kind of one of my next questions would be, what do you think medical providers need to be mindful about when they're presenting those results and just make sure that they're actually covering?  

Ayah Ibrahim: Yeah, I love that they gave you the [00:07:45] human aspect of it and that there was another parent because that was one of the first things my husband and I did is we went home and we looked up families that had young children with Down syndrome and what that looks like even just kind of reassured your heart [00:08:00] that things were just gonna be fine. 

Down syndrome wasn't new to our family. I have a cousin with Down syndrome, so I wasn't totally scared. But she's my older cousin, so I didn't know her as an infant. And my aunt's experience was so different 40 something years [00:08:15] ago. It was such a different world back then. I think it would have been really helpful considering I'd walked in there with what looked like a research dissertation level type document. 

From everything that I had seen from the previous ultrasounds, [00:08:30] having studied the my chart results that this was someone who was research based in my approach and could have met me there and brought documents or brochures that would connect me to research or other things that were [00:08:45] more tangible than just a laundry list of she's going to have a heart problem. 

She's going to have hearing problems. She's going to have vision problems. She's going to, and it was just one thing after another of negative things. It wasn't, these are the developmental clinics [00:09:00] that you could go reach out to as she grows older or thankfully, eventually after she was born, we were connected through our fabulous pediatrician. 

We were connected to the local Down Syndrome clinic that's at UVA. And when we got [00:09:15] to UVA, that was the first thing they gave us was the list of, um, these are the appointments that you go to. And these are the things you need to make sure that you're checking at these different appointments. And that was so helpful to our family because that's what we wanted. 

That's what we were looking for [00:09:30] is what can we do for her to make sure she's all set and taken care of and that we don't drop the ball in any way. And so something like that would have been incredibly helpful. And we didn't know this genetic counselor. We, we never [00:09:45] really saw her again after that call the day before she was born. 

And she didn't reach out to us or anything like that. So there was no rapport between our family and her and no real connection between us. So maybe having involved a provider who was consistently [00:10:00] there for us, like our midwife, would have been really helpful. And our midwife was incredible, but she didn't have the resources and didn't know about the diagnosis until we informed her because the lag of how information trickles through. 

So I think that would [00:10:15] have been really helpful for our family.  

Stephanie Meredith: Yeah, and really those American Academy of Pediatrics guidelines are really helpful because those do give that list. They're pretty comprehensive in telling what resources are available. So I can see where that would be really valuable. [00:10:30] And I think my last question is just about your experience as an advocacy organization leader and someone who supports other families. 

What kinds of stories are you hearing from them about their experiences with receiving screening results? [00:10:45] And especially prenatally and how that seems to be going for them overall.  

Ayah Ibrahim: Something that really struck out to me actually at the genetics counselors event, and I haven't heard from anyone who's quite experienced this, but one of the [00:11:00] counselors talked about how she builds these really personal relationships with her families. 

And continues to check on them because this is a process just continuing that connection of I'm there for you and I will help connect you [00:11:15] to whatever resource you may need because health concerns will come up. And so being able to feel like you have that rapport with the genetic counselor or the pediatrician and that you can turn to them when you need. 

And I [00:11:30] think that that was really inspiring to hear from that counselor at that event. And I hope that many take that lead and follow suit because it's it's really, really impactful for the family going forward. [00:11:45]  

Stephanie Meredith: Yeah, definitely that ongoing relationship and being able to ask questions. And I think something that's come up too, in some of my conversations with clinicians, it's just, you don't even have to have all of the answers. 

Be [00:12:00] willing to say, you know what, I don't know, but I will help you figure it out and we'll work on it together.  

Ayah Ibrahim: Absolutely.  

Stephanie Meredith: That humility is really helpful because it shows that you're willing to learn together.  

Ayah Ibrahim: I think for [00:12:15] us, in particular, our pediatrician, one of the things I have such immense respect for her for is the fact that she said, look, with as much as I know and how many people I've had in my practice who have Down syndrome, [00:12:30] I don't feel like I am the best resource for you. 

I'm going to connect you to UVA and her being humble in her own limitations puts so much confidence in her that that [00:12:45] point forward. So I feel so confident turning to her about any small thing or big thing, knowing that she knows where her limits are and that she will immediately turn towards those who know or are better connected to the latest and greatest [00:13:00] on what is helpful for our kids. And it, it's such a wonderful thing to see. And we're so lucky to have her. 

Stephanie Meredith: In our research, we asked the parents of children with [00:13:15] Down syndrome, yes and no questions about whether their obstetricians and genetic counselors followed recommended best practices for delivering prenatal screening results. Then we asked them open ended qualitative questions about their diagnosis experiences. 

And what we [00:13:30] found is that OBs are most likely to provide comprehensive prenatal care. Very good. And discuss. reproductive options, and medical issues. However, only about 40 percent provided resources about improved social and life outcomes for people with Down syndrome, [00:13:45] and only about 30 percent provided information about a local Down syndrome support group, or even discussed supports and services for people with Down syndrome, like early intervention, which was so critical to me. 

Even though all 15 years has shown that these are the most [00:14:00] important pieces of information parents care about. And then only 22 percent of clinicians provided information about a national Down syndrome advocacy organization.  

So where this gets really interesting is about 61 percent of OBs said they were [00:14:15] sorry or presented the diagnosis as bad news. Many clinicians do this to be empathetic to their patients. That's their intent. But research has been available for the past 10 years recommending that clinicians not say sorry. Because parents of children with Down syndrome [00:14:30] internalize this message to mean that their physician perceives that a life with Down syndrome is something bad. 

So we use this variable as a litmus for implicit bias and compare that implicit bias group in one bucket [00:14:45] against the non-biased group. And what we found is that the implicit bias group performed worse in every category and by a statistically significant margin in the provision of comprehensive prenatal care and the provision of information about support services [00:15:00] and resources. 

In fact, patients reported that only 17 percent of biased clinicians provided accurate, up to date, and balanced resources about Down syndrome, while 51 percent of unbiased providers offered those resources. So it's a really big [00:15:15] difference here. And yet at the same time, that 50 percent number still isn't the 100 percent that we would want it to be for all clinicians. And you can access this article for free as an open access article in the Disability and Health Journal. [00:15:30]  

After finishing this study, we were really concerned that only four of the 242 respondents identified as Black parents because we wanted to make sure we were representing the concerns of all parents, particularly when we know that Black people with Down syndrome [00:15:45] have historically had worse health outcomes. 

Research also shows that Hispanic and Black parents of children with Down syndrome report experiencing discrimination in healthcare and also inequities in social determinants of health. So, our team decided [00:16:00] to apply for a PCORI project where we specifically sought out input from Black and Hispanic parents of children with Down syndrome about the best ways to disseminate information to new and expectant parents and how to support them. 

So what we did is we brought [00:16:15] together 10 Black parents and 10 Hispanic parents from across the U.S. all different regions, as well as six advocacy organization leaders to participate in eight hours of online community conversations to really dive into their input. [00:16:30] Then we shared their feedback with five health equity experts and five interdisciplinary medical providers to find out how to braid their recommendations into practice. 

And fundamentally, what we found out in our PCORI project is that Black and Hispanic parents [00:16:45] face many of the challenges identified in our study related to the provision of information and support generally. But the impact can be even more profound when you add the health inequities experienced by people of color generally. 

The parents in this group are [00:17:00] particularly concerned about social determinants of health, like resources about health insurance, housing, transportation, and disability and support services. And those are largely the things that we're lacking in these diagnosis experiences, and they really want that [00:17:15] information to get best outcomes for their child, particularly when you've got a medically vulnerable child. 

And there were nuances that were also specific to each population, like Hispanic parents were particularly interested in clinicians providing information in multiple languages [00:17:30] and also finding out about research on the impact of teaching your child to be bilingual. And Black parents were concerned about feeding strategies, particularly given some of the historic trauma with breastfeeding among Black women. 

So, based on all of their [00:17:45] thoughtful feedback, we actually created two white papers and two free online courses for clinicians and also for advocacy organization leaders on our website. And that can be found at lettercase.org.[00:18:00]  

Nia Sutton: Now you'll hear conversations between Dr. Stephanie Meredith and two of the other guests that she interviewed for this podcast episode. Tatiana Salinas is the Spanish Bilingual Family Support [00:18:15] Specialist at the Massachusetts Down Syndrome Congress and the mother of a child with Down syndrome.  

She also worked with Dr. Meredith on the PCORI project to improve the dissemination of research and better [00:18:30] support Black and Hispanic parents of children with Down syndrome. Katie Stoll is a certified genetic counselor and the executive director of the Genetic Support Foundation, a non profit in the Pacific Northwest committed to providing [00:18:45] ethical genetic counseling services to patients nationwide. 

Katie and Stephanie have collaborated on projects for over a decade.  

Stephanie Meredith: Hey, Tatiana. It's so good to be talking to you. I know we just finished up our PCORI project together, and I was hoping maybe you could [00:19:00] share a little bit about that before we dive into some of the other questions.  

Tatiana Salinas: Hi, Stephanie. Thank you for having me. And I'm glad to share this. diagnosis journey and describe a little about the PCORI project, which [00:19:15] I think was very important for families, for moms to share about our experiences receiving a diagnosis, having those conversations and really include the diverse backgrounds that we share. And so have those [00:19:30] perspectives taking into account.  

Stephanie Meredith: Awesome. Thank you so much. And, you know, I think what we really found is we all have these really individual diagnosis experiences that shape how we move forward. [00:19:45] And I was hoping you could share a little bit about your own diagnosis experience.  

Tatiana Salinas: I was about 13, 14 weeks pregnant, and I had a lab work done that I was waiting to [00:20:00] receive the results. 

And I received a phone call from the OBGYN practice. And they informed me that everything was fine, that there was nothing unnormal that came out. And I did ask about the gender and they had [00:20:15] said that that was the only result that we were still waiting to hear back. And so two days after I receive a phone call from my medical doctor and, um, she said that we received all the [00:20:30] results back and the result that would indicate trisomy 21 came with positive result. 

And it was very, very much [00:20:45] overwhelming at that time. I did not know how to react. It was really shocking. But the first question that I asked, do we know if it's a boy or a girl? [00:21:00] And she responded, are you sure you want to find out? And I said, yes. And now that I can look back and then realize I was really making the determination really [00:21:15] to embrace my daughter at that moment. 

And my husband and I had decided to continue the pregnancy. Our doctor, she offered for us to come to the office and have a conversation and she could explain a little more what [00:21:30] it entailed, because at that time, I did not know anyone with Down syndrome. I was not familiar with anything related to Down syndrome. 

And so we came to her office and she had explained and [00:21:45] she was very patient to go over what it meant. I remember that at that time test to find out if there was anything major, any heart effects or any other issues that could come [00:22:00] up, but it did not happen. I do remember that throughout those visits, many nurses or other technicians, they would always ask, are you sure you want to continue the pregnancy? 

Those repeated questions would [00:22:15] make us uncomfortable and not at ease for sure. When we had our daughter, like everything was, was really great. And we, our worlds changed for the better.  

Stephanie Meredith: Thank you so much for sharing [00:22:30] that. I know that our kids are both our first. And so that's such a defining moment. When you get that news. 

And so I wanted to ask, too. What do you think medical providers need to be mindful about when [00:22:45] they're presenting those screening and diagnostic results?  

Tatiana Salinas: It's very important for parents to to know medical what it entails, at least from that medical perspective. But for sure, that empathy or that ease [00:23:00] of really giving the information in an unbiased way. 

Now that I also volunteer for the first call diagnosis and the things that I hear the most is once parents are really [00:23:15] deciding to continue the pregnancy, it's those reminders of making sure that we're making the right decision and that can make many of us feel uncomfortable. Like, why [00:23:30] are they so insisting about me terminating, um, my own child? 

And, and so those things are really, something that could be avoided and really be mindful and [00:23:45] respectful of the decisions that are being addressed.  

Stephanie Meredith: I can see that. You've done so much work with supporting families in your own community and also based on our PCORI conversations. What information really [00:24:00] has stuck out to you that's particularly essential for Black and Hispanic parents? 

Tatiana Salinas: I think what I see the most is that, for the most part, parents that receive their diagnosis, I can speak for mostly Spanish [00:24:15] speaking families, they're very much deciding to continue the pregnancy. A lot of it has to do with religion. A lot of it has to do with our, our backgrounds. And, and so [00:24:30] that, that is very much essential. 

And we see a lot of Hispanic families joining our community. And it's really about having that empathy again, and understanding that this is [00:24:45] really a decision that families are deciding and being mindful and respectful of the decisions.  

Stephanie Meredith: Yeah. And I think that really speaks to the way the diagnosis is discussed, but I'm also wondering too about like [00:25:00] the types of information that they are wanting. 

Are they asking about health issues, social, you know, kind of how, what, what life is like, what, what types of information that way are you have kind of stuck out to you?  

Tatiana Salinas: I think it's a [00:25:15] little bit of everything. They're very much eager to find out other moms, other families that are in the same boat per se. 

And, and so connecting with other families, building that tribe, [00:25:30] building those relationships, building those connections that build trust and knowing they already know what, what it is. And so they reach out a lot for recommendations and, and suggestions and, [00:25:45] and things of that many others might have already navigated. 

So a lot of it comes to that kind of word for mouth information that they, they trust in that, um, they, they really [00:26:00] seek out.  

Stephanie Meredith: Yeah. Thank you so much. I really appreciate your insights. So thanks a lot, Tatiana.  

Tatiana Salinas: Thank you, Stephanie. 

Stephanie Meredith: Hi, Katie. [00:26:15] Thanks so much for joining today. And if you want to just take a couple minutes just to introduce yourself so that people know who you are.  

Katie Stoll: Hi, Stephanie. I am Katie Stoll. I am a genetic counselor by training and also [00:26:30] executive director at a nonprofit genetic support foundation.  

Stephanie Meredith: Thanks so much. And so why don't you kind of just let's jump right in, as we've been having these conversations about prenatal diagnosis experiences and getting [00:26:45] screening results. What do you think clinicians are currently doing well when, you know, it's when these conversations are going as best as they can? And then also, where do you see areas where there could be some better support provided to [00:27:00] families? 

Katie Stoll: I think that from your research, you know this answer better than I do, but I would say that it probably depends a lot on the specific clinician, too, in terms of what's being done well and what could be done better. Thinking about this question, something that came to mind for me was [00:27:15] that when I was in graduate school for genetic counseling more than 20 years ago, it was pretty controversial about the idea of providing photographs to give [00:27:30] context and information around genetic conditions that we were talking about during prenatal screening. 

And you probably remember that back in 2012, we surveyed genetic counselors to see what, visual aids that they were providing to patients and talking both [00:27:45] about prenatal screening and also prenatal diagnostic testing and even a diagnosis. And it was very common that genetic counselors were providing information just in terms of a picture of a karyotype, a picture of chromosomes. 

It [00:28:00] was really, really uncommon for genetic counselors in any of those settings to actually show photographs of people who had the genetic conditions that we were talking about with prenatal screening. And that's one area that I just think has really, really changed [00:28:15] over the last two decades, I'd say, especially in the last 10 years. I would attribute those changes much to to your work with Lettercase and that we have these great resources available that include pictures of people who have the genetic conditions [00:28:30] and ways that really show what life can look like, what the quality of life can look like in a way that any kind of bullet point list or karyotype couldn't share or convey to families.  

So I think that's one thing that providers are [00:28:45] doing much better than they used to is just having access to these resources and actually sharing them with patients and families, which is huge. Overall, I think because there's better resources to share, many providers are sharing those resources and providing that support at the time of [00:29:00] discussing a prenatal screening results. 

But I know that sometimes there's gaps in that, too. And there are certainly situations where patients aren't getting what they need, either in the pre testing counseling or in the post test follow up, that they may not be [00:29:15] getting up to date resources that give a fuller picture of what life could be like with the conditions that we're talking about. 

I think that there can be a lot of bias against disability that comes out in the communications, implicit or more direct, [00:29:30] as you found through research too, and I have no doubt that that's still happening in many cases. So as far as what providers could do to better support patients and families, I think there's some publications that exists that could be really useful [00:29:45] resources in terms of just giving an outline and some really specific guidance around what should be conveyed and what should not be said, for example, we talk a lot about just how often people report having [00:30:00] one of the first things that they hear from their clinician is I'm sorry, and this guidance to providers to not go to it, kind of an assumption of negativity right from the get go, I think is so important, [00:30:15] but I think that it can be helpful just to get those really specific tools to providers. 

The National Society of Genetic Counselors has a guideline around providing a diagnosis and give some very specific information and context about what should [00:30:30] be provided in following a diagnosis. The American Academy of Pediatrics also has a similar guidance. So I think there's some useful tools to clinicians that can help support that. 

Stephanie Meredith: And, you know, and the other thing we really [00:30:45] found with our research, which is coming out in the Journal of Genetic Counseling that was authored by a genetic counseling student at Wayne state, which is really exciting, really finding that those clinicians who follow the guidelines and give that more comprehensive [00:31:00] information, those conversations go better. 

So those, the guidelines really are on point. It's just a matter of making sure that individual clinicians understand that they exist and are doing that. I think at this point, they actually call them a practice [00:31:15] resource, not guidelines anymore. I want to make sure I say it that way. And, and what do you think can really be done to help better prepare these clinicians to provide that support and know that those resources are out there for them? 

Katie Stoll: Well, [00:31:30] hopefully, opportunities like hearing this podcast might be one way to kind of raise some awareness about it. But I think that bringing more training into education of providers, both genetic counselors and physicians, other clinicians, I think is something that's really important [00:31:45] to do. I think in some specific training programs in some areas, uh, this is happening. 

I think that it's, you know, just exposure and experience and working with people who have lived experience with the conditions that we're talking about. It's [00:32:00] not surprising with many genetic conditions are really rare and some even that aren't rare. Many people that are going into the practice of medicine or genetic counseling may have had very little personal experience or interaction with people who have the genetic conditions that they're now face [00:32:15] to talk to families about what to expect, and they may not have like that personal context to draw from. 

So it would be wonderful if kind of that training and medical education could expand. I know that the genetic health and training program I went to at [00:32:30] Brandeis University had a pretty specific focus on disability. And I think that was largely due to the fact that the program director was being a parent of a child with a rare genetic condition and a disability. 

And that was where she was coming from and starting this program. So it was a [00:32:45] big focus of our work and, and our training. I think that other programs have brought that in as well. But yeah. It's quite variable. I wanted to mention, you know, a resource, Stephanie, that you've been really instrumental in developing and that you have training for medical professionals in [00:33:00] terms of online modules that can be viewed at Lettercase.org.  

And I think these are really fabulous resources and very accessible and also can give providers that those tools whether or not they receive them in [00:33:15] their medical education.  

Stephanie Meredith: And I think you raise a good point to where your program director was a family member. And I think that also brings to point the value of bringing people with disabilities and their family members into the workforce. 

I think [00:33:30] that's another way to help better prepare clinicians. And thanks so much for the shout out to, we definitely want to make it so that clinicians can access that training, whether they're in practice right now, or they're a student and they're getting that [00:33:45] reinforcement.  

And then what tools do you think are already available to help them through that process? Because it's overwhelming, I'm sure, especially when it's your first time and you're delivering. And that unexpected news, what can help them [00:34:00] to make it the best experience possible for their patients?  

Katie Stoll: I think that the tools that we've mentioned, the training for medical professionals on lettercase.org, but there's also just a ton of great information at lettercase.org and booklets and pamphlets that [00:34:15] are geared towards patient education that are really beautifully done, they're inclusive of these photographs that we've talked about.  

But they're also developed with information that has been built by these consensus groups that include both medical [00:34:30] organizations and also patient advocacy organizations, I think, really carefully designed and available for print or download. The organization that I work with, Genetic Support Foundation also has a number of resources that are intended to help [00:34:45] providers. 

We have patient decision tools. We have educational videos around different prenatal testing options, including prenatal screening and what conditions are tested for and how to make decisions about prenatal screening. And those videos [00:35:00] were made in coordination with the Washington State Department of Health and are available in both Spanish and English languages. 

I think a resource that we could tap into more is just kind of looking to patients who have this lived experience as a [00:35:15] resource. Several years ago, when I was talking with a patient who had a prenatal diagnosis of Down syndrome that was unexpected, and she had said something about not being prepared to have a child that was [00:35:30] never going to grow up and leave home. 

And it was so helpful to me that we had this connection. I was, you know, talking with you about your experience as a parent of a teenage boy who definitely was interested in growing up [00:35:45] and moving, moving away from home and being independent in his life. And I think that just having that connection to seeing what you were going through with a teenage son who had Down syndrome just gave me such confidence and this [00:36:00] perspective that I felt like I could talk to this expectant. 

Mother who is kind of going straight to those adolescent and young adult experiences is a big concern and I think about that a lot and I think that any obstetrician or pediatrician or genetic counselor [00:36:15] probably has patients that they've connected with through their time that would be really glad to give advice and support about their own experiences that could be shared and help them continue to do better with the way that they're communicating with families.[00:36:30]  

Stephanie Meredith: It's really important for clinicians to ask their patients, especially those who have experience living with rare conditions, different genetic [00:36:45] conditions, asking them, hey, what is the latest information that you most appreciate? Asking those questions. is really great. And I think too, as far as connecting people with peers, like the Down Syndrome [00:37:00] Diagnosis Network is really great about that. 

Because maybe in your local area, you have someone else who has Down syndrome, but not someone who has Down syndrome and esophageal atresia. And you want to talk to somebody who's done both of [00:37:15] those things. That can be tremendously helpful too, when clinicians provide those types of resources so that people can connect with someone else who, who understands what it's like to go through that. 

These are all such great tools that everybody's working on. And I'm, [00:37:30] I'm so grateful to you. And I'm so grateful that we've been able to be resources to each other. And thanks so much for being willing to share today.[00:37:45]  

Nia Sutton: Thank you all for joining us for this episode of MCH Bridges. We kindly ask that you take a few minutes to fill out a quick feedback survey to let us know what MCH-related topics you're interested in hearing about and [00:38:00] who you want to hear from in future episodes. A link to that podcast feedback survey, as well as the transcript of this episode, can be found at www.mchbridges.org.  

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This project is supported by the Health Resources and Services Administration. of the U.S. Department of Health and Human Services as part of an award totaling $1,963,039 [00:38:45] with 0 percent finance with non-governmental sources. This information, content and conclusions are those of the author and should not be construed as the official position or policy of [00:39:00] nor should any endorsements be inferred by HRSA, HHS, or the U.S. Government.