WITH GENETICS COUNSELOR, MARISA ANDREWS
Hosted by Erica Jolene and Kristyn Newbern | Transcription HERE
GENETICS and reproductive family planning. This is an incredible episode, packed full with so much insight from an amazing expert in the field! Pediatric and Fertility Genetics Counselor, Marisa Andrews, joins Kristyn in today’s episode to share about the world of genetics.
This episode is for YOU if you have ever found yourself struggling with the following:
🤍 Understanding how a genetic mutation can impact a family.
🤍 Deciding how to move forward with growing a family if you and/or your partner are carriers of genetic condition.
🤍 Struggled with infertility and want to learn more about the process of IVF.
🤍 Deciding to have more kids after learning that your child has a genetic condition.
This episode addresses the barriers and obstacles that many rare disease families face in their pursuit to grow their family, but ultimately, it serves as an important reminder that these decisions are hard and that we could all benefit from discussing these hardships more openly.
[Image Description: Light blue background with a white font that reads, “Building a Family Through IVF and PGT with Genetic Counselor, Marisa Andrews.” Framed in a circle at the center of the image is a black and white photo of Kristyn embracing her miracle babies, Ozzie and Luke.]
#Genetics #IVF #IVFjourney #PGT #PreimplantationGeneticScreening #PreimplantationGeneticTesting #GeneticCounseling
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Episode Transcription
Erica
Welcome to Atypical Truth. I'm your host, Erica Jolene. Humans are storytelling beings. I created this podcast to amplify those stories of people in my community, the community of people with rare diseases, disabilities, and complex medical conditions. Not only will you hear from my peers in this community, but you will also hear the stories from family, friends, and professionals who advocate with us.
My guest host for this season is Kristyn Newbern. Kristyn’s life was transformed when her son Luke was born with congenital heart defects and later diagnosed with a rare condition called Noonan Syndrome.
Today’s topic of discussion is all about genetics. When families are having discussions about genetics, it is important to understand that at the center of these conversations are people who are deeply loved. It could be families who have either a child or a family member who has been diagnosed with a genetic disorder, or perhaps a family member or child that they have lost to a rare disease. It could also be a person who is currently living with a genetic condition and is wanting to learn about the hereditary risks when it comes to reproduction.
Our guest today is Marisa Andrews who spent a decade working in pediatrics as a certified genetic counselor at St. Louis Children’s Hospital. There she supported families who were navigating the process of genetic testing and helped them to interpret and understand the genetic test results. Marisa currently works at the Washington University Fertility and Reproductive Medicine Center where she now fulfills a similar role as a genetics counselor, but kind of on the other side of the spectrum, where she helps people navigate future family planning and reproduction when they are known carriers of a genetic disorder there are concerns about passing that condition on to future children.
Marisa and Kristyn talk about the world of genetics, and Marisa helps to explain the process in somewhat of a chronological order in the way that you might experience if on this journey yourself. First, she touches on genetic testing, the different types of genetic results, and then she explains the process of preimplantation genetic testing or PGT, and in vitro fertilization, also called IVF. IVF with PGT is just one of many family planning options that couples have if there's a known risk of passing down a severe or life-threatening disease.
There is a lot of information that is covered in today’s episode, which is why I am just so fortunate that we have Marisa sharing because she is just so graceful in her explanation of these processes, so you don’t have to have a background biology to understand what she is sharing.
I also want to say that the decision to discuss this topic and share about it so publicly was not a decision that Kristyn nor myself made lightly. This is not an easy topic to cover and I certainly could not have done this without the help of an expert, so I am extremely grateful for Marisa’s willingness to provide us with this educational opportunity to learn more about genetics, along with IVF with PGT.
I am also want to say that I am extremely honored to have Kristyn bravely share about her own family’s journey with IVF and PGT. And in our next episode, which will release two weeks from today, she will be joined again by Nichole Rosenberger where they have an open discussion about the decisions they faced, the factors that went into those decisions, the obstacles they were met with, and the emotions that they carried and really continue to carry through this entire experience.
So I ask that you keep an open mind and an open heart as you listen to these next few episodes. I also ask that you reflect on all the episodes leading up to these. It is important to understand the complex journey that these families have been on and the difficult decisions that they have had and that they continue to face.
I learned so much from today’s episode, but one of the most beneficial reminders that this episode provided was that there are some really compassionate and caring people in the world, people who have dedicated their lives to helping others work through these really difficult decisions. Marisa is just a phenomenal example of that and I am beyond thrilled to share her insight with you today.
Kristyn
Marisa, thank you so much for coming on to this podcast and being our guest today. Very excited to have you.
Marisa
First of all, thank you so much for having me on. I'm really excited to have this conversation with you.
Kristyn
You and I have been through quite the journey together. And you have played such an important role in a very important time in my family's life. So very excited to talk to you more about that. And then we do have to give our disclaimer that Marisa’s opinions today are her own and they do not reflect those of her employer. So with that, let's hop into some of the hard-hitting questions first. Marisa, if you were to be a band, what instruments would you play and what music would your band play?
Marisa
So like many, many young children, I was enrolled in music lessons, piano for me. And I remember liking it and I desperately wish that I hadn't stopped those lessons. But they were on Saturdays at 8 am in the morning and I think my parents got tired of trying to get me out of bed and get me to those things on time on Saturdays. So I eventually dropped them. But if I could go back in time, I wish that I continued with it because I would love it if I was able to play the piano. I think it's such a beautiful, versatile instrument. I actually had a great grandmother that taught herself to play by ear, and she used to play for the local veterans in the VFW, but she would play like rock and roll piano. So I would, if I could do that I would be ecstatic.
Kristyn
I always think that's the most impressive. You know, when a musician is playing by ear, it's just it just seems so inherent. I had piano lessons when I was younger and was very classically trained, right. So I can tell you all about musical theory and technique and things like that. But I was always so impressed with, you know, my friends who they would hear something on the radio and then be able to play it on the piano. And I'm like, “Where's your sheet music?”
Marisa
Yeah!!
Kristyn
I agree with you. I think that's just so cool. So impressive.
Marisa
Yeah, people who just have this beautiful ease with it. And it just seems to be a natural part of them. It's incredible. But yeah, I mean, I was very young at the time, but I was definitely much more, you know, I had to see the sheet music, I was definitely not just picking things up very easily by ear.
Kristyn
You and I share that. Now, if hobbies paid the bills, what would make you a millionaire?
Marisa
I will admit, I am not a person who has a lot of, I guess what you would consider true hobbies. But I do actually listen to a lot of podcasts all day every day. So I guess if I could make money by the hour, I'd probably make the most listening to podcasts.
Kristyn
I love that. And how timely I'm fitting for our discussion today, too.
Marisa
Right!
Kristyn
So tell me a weakness of yours that others might not recognize, but as we all do, we that you might notice all the time about yourself.
Marisa
So it's one that is kind of at the forefront of my mind today, which is that I am very, very conscientious about my communication and my word choice because it's so so important for my job. And I worry a lot about being misunderstood or not getting things across clearly because that was sort of driven into me as part of my training. So it's something that I think about all the time that I hope doesn't come across too much to other people. But I would say yeah, I'm very self-conscious about, you know, word choice and how well that I'm communicating with people. So it's always something that I'm thinking about.
Kristyn
That's a really good point that I think because you do it so well, and you're so…it comes off so naturally because you have this experience, that I would never have guessed that. Just that so it truly is something that you alone, are recognizing, but…
Marisa
I appreciate that. Thank you.
Kristyn
Oh, of course. So Okay. And then finally, what is one thing that you are presently very grateful for.
Marisa
So right now, I would say that I am most grateful for the partnership that I have with my husband. We have a seven-month-old, it's our first baby. And with COVID, and everything else going on, you know, there's a limit in how much you really want people coming into your environment with a new baby. So we've done a lot with less help than I think we would have had if it weren't the time of a pandemic. And it's just been incredible. I think, you know, people say sometimes that, you know, you kind of fall in love with your spouse all over again, when you have a baby. And that's definitely true for us. And I just, I feel like I've really just come to appreciate the true depths of his kindness through this last year because he's been incredible. And I don't, I don't know how we would have made it if it was just me and my girl.
Kristyn
I love that. And congratulations on your baby. Very exciting.
Marisa
Thank you!
Kristyn
I'm so glad to hear that you both have really made such a profound step in that partnership. I mean, talk about a time to become parents.
Marisa
Riiiight! (Laughter) Yeah, I tell I tell people, it's kind of you know, it's interesting, because, you know, it was our first time becoming parents. And so we don't really have any frame of reference for it being any different. And so I think if this had been our second baby, maybe we would have been more, you know, sad about some of the things that had to be different. But since this is the only way we've ever known it, you know, it may be kind of a blessing in that way.
Kristyn
Well, Marisa, that sentiment really resonates with me, because it's often how we feel about Luke because Luke is our first child. And so like you said, we had no baseline, if you will, we didn't know what it was to be parents of a healthy child. And so as we would, you know, approach things or get his doctor's schedules, or his medication schedules, or anything like that we didn't have anything to compare it to. So we didn't really know truly how different our lives were at the time. And everything. So yeah, so I, I hear you and I relate to that so much as well.
Marisa
Absolutely.
Kristyn
So let's dive into some of our questions and discussion today. First, I would love if you would just give us kind of your elevator pitch summary of yourself your current professional role, and what brought you to where you are now?
Marisa
Sure. So I am born and raised in Missouri, I'm actually from a very small town about an hour south of St. Louis. And I, sort of from a very young age was always a lover of math and science. Being from a small town, I was outside a lot, and around a lot of different types of animals. And so I just always sort of gravitated towards biology and just math and science in general, I had some really wonderful teachers in high school, kind of the classic, quirky science teachers that really drew me even more towards that subject, because I just love learning from them so much. And so when I went to undergrad, I studied biology but spent a long time not really knowing what direction that I wanted to take that in, but eventually did come across genetic counseling and decided to pursue that field. And so I went to a program at the University of Texas in Houston, where I got my graduate degree, and then was lucky enough to be able to come back to St. Louis for my very first job. So I started my career at St. Louis Children's Hospital, and I was a pediatric genetic counselor for almost 10 years before the fertility clinics that I currently work for, decided to hire their very first genetic counselor, they never have had one as part of their group before. And it's been a wonderful transition. So I've been there for about two and a half years, working with couples who are hoping to conceive who might be going through fertility issues, such as recurrent pregnancy losses, but also couples who don't have fertility issues, but are coming to our clinic to do IVF, with genetic testing of embryos that we're going to talk about.
Kristyn
Wow. I just resoundingly appreciate having, of course, you in that role, but also just the recognition, that having that emotional component, that person to kind of guide you through and translate all of the terms and abbreviations and everything and, and really help to communicate that journey and be that resource throughout. It was so pivotal to us. And so, you know, to hear that you in 2018 were the first genetic counselor to be hired at this fertility clinic. It's just, it's surprising, but also with the medical journey that we've had with Luke. It's also not surprising. Were you nervous about being the first at the clinic?
Marisa
Yeah, I mean, I think it's definitely not a job that I would have wanted as a brand new graduate. You know, I'd been in pediatrics since I graduated and although I studied all the different areas of genetic counseling, I'd practiced only in pediatrics and my graduation. And so I was a little nervous to be the one that took this job potentially because I had not been in the realm of OB or pregnancy, you know, since my training. But what I have found is that coming from pediatrics has really been a special type of benefit. Because the patients that are coming to the clinic to test for a specific genetic condition, either because the parents are both carriers for it or because they have an older child who has that condition. A lot of those conditions in 10 years I've seen in person, or if not seeing the exact condition seems something similar. And I think that's a real benefit because working with those children and those families, those parents over time, you really get to appreciate both the things about it that are hard but also the things about it that are really beautiful. And I think that, especially when someone is coming to you with an older child who has a diagnosis like that, being able to recognize that this is something that can be really conflicting for someone because they love every molecule of their child. But at the same time, they don't want another child to face the same challenges that their older one did. And that's a really fine line and a fine balance to walk. And I feel like, while I don't have the same appreciation for it, as the parents themselves do, I do feel blessed to have gotten close to very many families over 10 years and to have heard those emotions from them over and over again. That really impresses, you know, in you how there are really two sides to this coin, that both lives in you at once. And that's a challenge. And that's been really the biggest benefit of coming from pediatrics to this position.
Erica
For those of you who are listening and have a child with a rare genetic disease, you may be familiar with this process and have likely experienced the support of a genetic counselor yourself.
There is a long list of reasons why pediatric genetic testing is performed. It may be that a child is born with a birth defect, or that they have chronic functional problems in one or more of their organs, or perhaps their immune system has issues leading to frequent illness. There may be hormone issues, atypical growth, or developmental concerns. Perhaps a family history of a genetic disease, and, like I said, a long list of many other reasons - usually involving a set of health symptoms or concerns that maybe don’t quite add up. Or, if you are lucky in the terms of genetics, these symptoms are known to be related to a specific genetic disease. And I say lucky because that is not always the case because genetics is a relatively new field and, as Marisa is about to explain, there is just so much that genetics researchers are learning every single day.
Marisa
The one thing that I really enjoy about genetics from more of an academic perspective, but which is really challenging to genetic counselors, to geneticists, and definitely to families and patients, is that genetics is a relatively new field. And so there is a lot that we are still learning, you know, we have 20 to 25,000 genes. And we are nowhere close to understanding the function of all of them, and how they might contribute to disease or in some cases, protect us from disease. And we've made a lot of progress in our ability to be able to read or what we call sequence our genes, but interpreting all of the changes or variations that we might find there, that's what remains to be the larger challenge because not all variations are harmful. Some of them are benign, they don't do anything. Some of them might even be protective. So for instance, you know, there are changes in a certain gene that lower your risk of getting Alzheimer's, not increase it.
Kristyn
Wow.
Marisa
Yeah. So I mean, I think and there's just, there are so many millions of DNA letters, and they can be changed in a myriad of ways that we certainly do not have a handle on that yet, but we continue to learn every day. But that was a big challenge in the pediatric clinic is that, you know, sometimes people would come and they would get the very best, most extensive genetic testing, that we could do, like a whole-exome sequencing that Luke had, and the results would come back negative, would come back normal. The tough thing to explain is that genetic testing coming back negative or normal, it almost never means that we can tell you that a person's symptoms aren't genetic. What it says that we can tell you is that based on our current technology and our current knowledge of our genes, we can't find an answer that we can point to. But it still could be genetic, it could just be due to a variant that our technology can't pick up. Or it's in a gene that causes those symptoms. But we haven't discovered that that gene causes those symptoms yet. So we don't know that we're seeing something significant. And so you know, oftentimes with the pediatric clinic, if we would do the best testing available for someone and didn't come up with an answer, we would have people come back in two or three years, which is very frustrating. It's extremely frustrating. But we would have them come back because with a couple more years' time, or knowledge gets better, we might have new tests available that we didn't have a couple of years before. So we don't want to give up. But you often hear about patients with genetic testing and rare disorders going through a diagnostic odyssey that lasts years. And this can this can be part of why that is the case.
Erica
Ok friends, so this is where I am going to take a moment to provide a short summary of our own families' genetic testing experience as an example in this science lesson because sometimes real-life examples are more helpful than hypothetical ones.
With that said, Margot our first child, received a number of genetic tests. Because she was born with microcephaly and a drug-resistant seizure disorder, they first did genetic testing specific to a long list of known seizure disorders. This is a pretty common and cost-effective first step. However, when that test came back negative or normal, it became imperative that they do a whole-exome sequencing.
Before I go any further, I am going to let the expert, Marisa, explain all the different types of genetic testing results.
Marisa
Generally, with genetic testing, we would say that there are three possible types of outcomes, genetic testing can come back positive, meaning that they did identify a variant that they think explains the person's symptoms. You'll see the variant described as either pathogenic meaning disease-causing or likely pathogenic, which means they're not 100% certain, but they're about 90% certain. So those are the positive types of results. You could also see the results come back as negative, meaning that if they didn't find any variants that they're very suspicious could be the cause. They might have seen benign and likely benign variations but generally, those aren't reported out, because they don't think that they have an effect on your health. So the third type of results that can come back with genetic testing are what we call variants of unclear significance and that's the type of inconclusive result. And what it means is that the lab saw a variation in the gene that's not the most common way that the gene is spelled. So they do see a variation there from how the gene most typically is spelled. But they haven't seen that variant enough to classify it as either positive disease-causing or negative and benign. So there's just not enough evidence for us to know for sure whether that variation could be having an effect that's related to the person's symptoms. So that's our sort of inconclusive or unclear result. And sometimes, with time, those variants, there does become more new information available, and then they're able to move it into one category or the other. So disease-causing or benign, but at the time of testing. There's not enough information to know which category that it falls in. But then where that variant came from can either be inherited from a parent, or if we test the parents, and neither of them has it, that means that the variant appears to be de novo or new in the patient and that it might have occurred just in the one egg or the one sperm that went to form that person and it's not something that the parent has in their body at large.
Erica
Ok, back to our storytime for the real-life example. Understanding that Margot had a constellation of symptoms, so brain abnormalities (like Microcephaly), seizures, the absence of hair, and a noticeable dermatological disorder called ichthyosis - all these symptoms combined, it was clear that she had some sort of new and rare genetic disease, but this constellation of symptoms, it had never been documented before. So the next step was the big expensive whole-exome sequencing test.
Now, because her symptoms had never been documented before, at least not in the United States, the geneticist, they were fairly confident that her genetic tests may come negative, but this was not for lack of her having a genetic disorder, but more for lack of them having data regarding the gene where the mutation occurred. In basic terms, they don’t know until they know, and at the time that they performed Margot’s genetic testing, her condition had not been found or documented yet.
Marisa
sometimes like a family has one child who has what appears to be a genetic condition, but no diagnosis yet, and no one else in the family is affected in the same way. There are two main things that we think about. One is that it could be a recessive genetic condition where the parents are both carriers for a gene, variants in the same gene, let's say gene x. And the child inherited both a variant from mom and a variant from dad, so kind of got two variants, whereas each parent only has one. So the parents are just healthy, asymptomatic carriers, but their child is affected because they got a variant from each side. The other possibility, when there's only one affected person in the whole family, the other most common possibility, is that they could have a new or a de novo variant. So something that happened again in the one egg or one sperm that went to form that person, but that the parents don't have themselves in their own cells. And that, the difference between those is really important in terms of family planning because if a child has a de novo condition, the chances of that happening again, are generally pretty low because it's not something that the parents carry. It was a one-time event, in most cases. There are exceptions to every rule in genetics, but I'm not going to really dive into that. As opposed to a recessive genetic condition where both parents are carriers. So the chances of them both passing down those variants, again, is 25%, or one in four. So the risks for future children are very different than those situations.
Erica
It was our understanding that the chances of this new, random, genetic condition that Margot was born with, had a low chance of recurring because neither myself nor my husband were carriers of any known genetic diseases. We really didn’t have a family history of what Margot was born with, occurring.
And then Cary was born, with the exact same condition! And as Marisa stated, there are exceptions to every rule in genetics, and that was the case for our family.
Because Cary was born with the same extract constellation of symptoms, they were able to compare his DNA side-by-side to Margots, and that is how the genetic mutation was found.
Using that data, we learned that the genetic disease was, in fact, recessive and we would have a 25% chance of passing it down with each pregnancy. And while this news can feel incredibly depressing, but there is also some joy and relief that comes with it. Just to have a better understanding of what caused their symptoms, it is a giant relief, it means that there is hope for research. And then there is the side of it that we get to celebrate, which is the fact that their tests, Margot and Cary’s, it helped to find this mutation, and now other children who were born with the same set of symptoms can now receive their diagnosis as well. So yeah, it’s a bittersweet milestone in the journey of a rare disease family and it is one that marks a turning point for how we chose to navigate our future and the decision to grow or not to grow our families.
Kristyn
I think Luke was I think he was two when we first met and we had just gotten his genetic diagnosis. And so we were in this conflicting place because I wouldn't change a hair on Luke's head, right? He is, he is everything to us, and especially at the time, we you know, we're dealing with a lot of these emotions for the first time. And it's not something that anyone prepares you for or that, you know, we certainly felt like we were the only two people on the planet who are going through this. You know, it's not something that's really widely talked about and broadcast. So having all these conflicting emotions, wanting any future children to not have that genetic mutation, to not be facing that or a more, even a more severe version of that genetic mutation. It's very difficult as a parent to make that decision and to reflect appropriately and make the best decision for your family moving forward.
Marisa
Absolutely.
Kristyn
Prior to our journey, I was definitely in the not knowledgeable category of that You know, we had had some friends who have pursued IVF. After a journey with infertility, I knew it was expensive. And I knew it was very invasive and emotionally and physically draining, but I certainly had never heard of PGT. I only had you know, everyone's read kind of those sensationalized headlines of, “Oh, now you can pick the color of your baby's eyes, or oh, well look at that,” you know. Kind of just the scare tactics, right? But for our listeners today, I would love to help them the way that you helped us learn about this field. So first, could you explain what is the goal of preimplantation genetic testing?
Marisa
Absolutely. So I do want to start off by saying, you know, the, the decision to do preimplantation genetic testing, or I'll call it PGT moving forward, just to save some, some syllables. It's intensely personal. So I think like any choice related to family building related to reproduction, this is not a choice that anybody should be making, except for the couple themselves. And so my role as a genetic counselor is really to educate and support our patients, never to make a choice like this for them. You know, my goal is to help our patients walk through that decision-making process, give them the information that they need, and the answers to their questions that they're coming in with, and to help them weigh the values that they have to hopefully come to the decision that they're going to be most comfortable with. But to get back to your original question. PGT is the process of genetically testing a small sample of cells from embryos, which has to be created using in vitro fertilization, or IVF. So the goal of this testing is to identify embryos that are unaffected with a specific genetic condition before they are transferred to the uterus. So this is one of our only methods at this point in time to test for a genetic condition and reduce the chances of it occurring prior to conception prior to pregnancy.
Kristyn
So let's, let's talk a little bit about that. And about some of that, you know, whether it's a conflict or just that uncertainty or lack of real knowledge about this preimplantation genetic testing. With pursuing this field, and it being kind of, I would say newer, in the general realm of science, you were probably faced with and approached by people who do not understand they might even be afraid of or suspicious of the work that's being done in genetics.
Marisa
I really feel very strongly about the ethics of doing genetic testing, especially genetic testing of any kind related to reproduction. So I certainly include PGT in that. And I think one of the interesting things in the United States is that there really isn't any federal regulation of what you can and can't test for. Now there are limitations in our abilities. So Kristyn mentioned earlier about testing for things like eye color, or personality traits, or intelligence, you know, things like that. You know, a lot of those types of traits are so complex. You know, they're the result of many, many genes, and sometimes environmental influences, things like that. So these are not things that we have the capability to test for. But I do feel extremely strongly about this concept of just because we can doesn't mean we should. And when I switched from pediatrics to doing reproductive genetics, that's something that was at the forefront of my mind, I feel very lucky to work for a clinic that is very mindful of these types of issues. And they really give careful consideration to complicated questions like transferring embryos with abnormal PGT results, if that's all that a couple may have gotten from their cycle, and they can't afford to do another IVF cycle. Complicated ethical questions come up with IVF and genetic testing of embryos all the time. And I think that the ethics of it are something that are going to be right at the front of my mind throughout the entire time that I'm in this field because we do have a very complicated history with genetics in medicine, we do have a history of the eugenics movement in the United States and in other countries around the world. And we need to be very careful, especially when it relates to people's choices to build their families, that we are giving people information, we are giving people options, we are giving them clear and balanced information about the risks and benefits of doing things like this, and that we're allowing patients to make the choice that is right for them. And I think that, you know, it, it would be my greatest fear that things would start to trend in a direction where we are doing testing for things that are not as medically significant as something like what Luke has experienced. And so that is something that I think is, is going to be the issue of our time, and probably in the future as well, that we need to keep medical ethics and respect for our patient's decisions and the respect for how they feel. The patient knows what they are capable of. The patient knows what they want. And no one should be pressuring someone towards one decision or another. And I hope that we continue to view it like that.
Erica
I appreciate that Marisa took the time to share her own professional opinion about this subject. This very aspect of genetics is one that had been very unclear to me prior to this conversation. As Kristyn mentioned, I feel like I had only ever heard and read a lot of misinformation about the subject PGT. So that is why I am so happy to have Marisa share her valued insight, seeing has how she has first-hand, professional experience in this field. Ok, but the genetic testing component of this is just one of the many steps in the long process of PGT and IVF. So let's get back to that…
Kristyn
And could you give us just kind of that broad timeline of what does that look like? Once a couple decides that they are going to pursue PGT? We've said a couple of times that IVF is required to pursue that genetic testing. But could you give us just an overall timeline of events?
Marisa
Absolutely. So you're right when you describe IVF as an intense process, it's physically intense, it's emotionally intense, and depending on what type of insurance coverage that you have, it is also financially intense for a lot of folks. You know, it's so important to have a clinic that makes you feel heard and supported because there are often a lot of ups and downs in this process. And so it's really important to feel like you have a strong team behind you. IVF is really complicated, so I'll do my best here to sort of break it down. But basically, there's always an initial medical evaluation, that has to be done by the physician, which is usually a reproductive endocrinologist. And then once a patient is set up and ready to go with their IVF cycle, there's a few different steps. So the first thing that you are doing is taking medications to stimulate your ovaries to produce multiple eggs at once. So normally, we produce one egg per month, but with IVF, you're going to be taking medications that are going to stimulate your ovaries, and hopefully you'll produce many eggs on both sides in both ovaries. Throughout that process of being stimulated with drugs, you're monitored with both blood tests and ultrasound to see how your body is responding. And at some point, depending on you know how your levels are changing over time with the drug, at some point, they'll tell you that they're ready to retrieve those eggs, which is a surgical procedure that's done under anesthesia. And then after the eggs are retrieved, those are transferred to an embryology lab at our clinic that lab is on-site is actually on the other side of a wall where the surgical procedure is done. So there's actually a little pass-through window. And once the eggs are retrieved, they're going to be fertilized with sperm, either from the person's partner or from a donor. And then at that point, we are going to check the following day to see how many of those eggs fertilized. So how many embryos that we now have, and then we're waiting for the embryos to grow. So we monitor them in an embryology lab that is very specific in how it's set up. So the embryos are all in little separate incubators. And we're waiting for the embryos to grow to a stage where we can safely remove a few cells for genetic testing if you're doing genetic testing. And then at that point, once we have either performed genetic testing and gotten those results back, or if you're not doing genetic testing, once the embryos have reached a stage where they're ready to be transferred, those embryos would be transferred back to the uterus, either of the patient, or if they're using a gestational carrier.
Kristyn
Wow. That is quiet and that's just the overall summary.
Marisa
Yeah.
Kristyn
You know, it's hard to wrap our minds around the ability to have such a precise technology to biopsy, you know, an embryo in the first days of it being created to be able to test for a very specific genetic variant. But in our continued science class or continued science discussion, let's add another layer of complexity and talk about the different types of genetic testing. So could you clarify the difference between PGT-A, and PGT-M, and what situations parents approach for both?
Marisa
Yeah, so we again with the acronyms, we love our acronyms in medicine. So yes, absolutely. So PGT-A stands for preimplantation genetic testing for aneuploidy. aneuploidy is just a fancy term for having an incorrect number of chromosomes. So as some of our listeners might remember from back in biology class, chromosomes are the structures in every cell of our body that contain our genes. And normally, we expect people to have 46 chromosomes. They come in pairs, because you get one in each pair from your mom and one each pair from your dad. So PGT-A is checking for differences of the chromosomes primarily of the number of chromosomes that we have, although they can also detect things like partial missing an extra chromosome. This is the most common PGT that is done, because this type of PGT can be done for anybody who's doing IVF, because we all have chromosomes, all embryos have chromosomes. And what we know is that in embryos, especially very early in development, having an abnormal number of chromosomes is pretty common at that early point in development. And when embryos have an abnormal number of chromosomes, they're less likely to implant if we transfer them. If they do implant, sometimes those types of things can lead to a miscarriage. And there are a few chromosome conditions that babies can be born with. So for instance, Down syndrome is caused by having an extra chromosome. There is a lot of variation between clinics, in terms of how often and for what types of patients that they recommend PGT-A. You see it probably most often when patients have experienced multiple pregnancy losses, or they've had multiple IVF cycles or transfers that haven't resulted in a pregnancy. And sometimes you'll see patients do this type of testing because of age. So lucky us, we were born with all of our eggs, and because of that chromosome abnormalities get more common, the older that we get. And so sometimes patients will want to do chromosome testing of their embryos because of age. So you can contrast that with PGT-M, the M stands for monogenic disease, which means a condition that's caused by a single gene. And that type of PGT is a lot less common than PGT-A that we just talked about. So PGT-M is used when a couple knows that their children are at increased risk for a specific condition. So that could be a situation where one parent themselves has a genetic condition that's inherited in a dominant way. Or it could be that both members of a couple know that they're carriers for a recessive genetic disorder. And that could be something that they know because of having a child born with a recessive genetic condition, or it could be something that they know because of routine genetic screening that was offered to them. If you learn through that testing that you're both carriers for something, you would have a 25% chance to have an affected child with each pregnancy. And you could choose to do IVF with PGP for that condition. If that's right for you,
Kristyn
you know, that situation that you just described is exactly where my husband and I found ourselves just a couple of years ago, where we, after getting genetic testing, actually a whole-exome sequence performed on Luke, to learn more about his medical condition, and sort of the unexplained clinical symptoms that he was experiencing this overall picture that really didn't fit any diagnosis that we could make clinically, we turned to the complete genetic testing. And the results of that came back. And we actually decided that for the variant that Luke had, we had his father and I, Kevin, and I would get that variant specifically tested. And then the results came back that we were both recessive carriers. So we found ourselves in that position as well, where we had the knowledge that our chances of any future children having this genetic mutation would be one in four. So 25%, just like you said. So for us, coupled with the knowledge that this variant being newly discovered, and therefore not very well documented, it could display in any number of different severities and complications. After a lot of very challenging reflection, and like you said, having kind of that internal conflict, lots of discussions, lots of tears, we decided that for our family, the only option for us to have more biological children would be if we knew with certainty that a future child would not be affected by this variant. So coming to that decision was grueling in itself. But even after the challenging decision to pursue IVF and PGT, even after working with you and your team to move forward, we then discovered that the test for this variant did not exist in the world at the time. So no genetics lab in the entire world had created the test that we needed for Luke's variant. Crushing defeat comes to mind. You know, talk about feeling like, we literally were the, I would not say the only, but we were the first couple in the world to be taking this specific journey. So, I mean, I've, I've actually only told this story maybe a handful of times, and every time I have told it, it feels like we're telling the plot of a sci-fi novel or something. You know, each piece just getting a little bit more, you know, unbelievable and isolating at each stage. But, of course, we were not the only couple in the world going through this process. It was just because that was that one specific variant at the time. And Marisa, you helped us every step of the way to petition and apply for a test probe to be created. So I was wondering if you can kind of put this in perspective for me and for our audience. So could you give us an idea of how many genetic variants even exist out there? How many do we know of? Do we even know how many that we don't know of yet? And how does all of that factor in to this process?
Marisa
Yeah. So, you know, hearing you tell your story. You know, it reminds me of so many conversations that I would have with parents in the pediatric clinic, because genetic conditions and rare disorders in general, even if they're not genetic, can be so isolating. And it often involves the patients themselves, or the parents, in the case of children to become the expert, and they find themselves all the time, being the one that knows the most about their child's disorder, even when they're talking to medical providers. Because, you know, unless you are a geneticist, or you specialize in that particular disorder, you are probably talking to someone who's never seen that condition before. You know, your child is your priority and so I think a lot of parents take it upon themselves to learn everything that they possibly can, they read everything, they try to connect with anybody who might know anything. And so, you know, oftentimes, parents just have, you know, the time and the passion, and the drive to learn so much all that's out there. And often, they're talking to people who haven't had that much time to learn as much as they have. So I feel really lucky to have the job that I do now because I mean, both of my jobs have been rewarding, but fertility treatments, as we've already talked about, there's such an intense, and intimate roller coaster ride, I mean, family building and fertility, that's one of the most intimate medical experiences that you can go through. And the last thing that I want is for patients to have to worry about being the genetics expert, on top of going through that process. You know, I feel really lucky. And I hope that I can make the journey at least a little bit easier for patients by being there to kind of guide them through that answer questions. And when it is a complicated case, or something very rare, where we're having trouble, we may or may be finding someone to do the embryo testing, I hope that I can sort of take that burden on rather than having that be on the patient, or having them worry that the people who are trying to get that done for them might not know, you know, as much as they'd hoped.
Kristyn
You certainly did for us, I know that that was something I was like, “You're telling me that we have to apply to a world-renowned genetics lab, asking them if they can create a test probe for a genetic variant that I forget the letters to let alone, I need to…” And then all of it, it just felt like, like we were at the very beginning of this, these hurdles, right of all these things that we needed to jump over and jump through and, and that was, it felt so like such a long journey, right? And you helped every step to I don't know, to translate, but then also you did a lot of the work too. So I'm sure that that's something that, you know, is not only helpful but has made a lot of progress possible.
Marisa
I hope so. I mean, that is something that I take a lot of pride in. So I hope that is true for other people. But thank you for saying that was helpful for you. So what I will say, is that are not in a boat by yourself like as you mentioned. You had mentioned about how, you know, we had to submit to a laboratory and see if we could get someone to design testing for your embryos for the genetic variants that Luke has. And interestingly, everybody that does embryo testing for a single gene actually does have to go through a similar process. Now, for some genes, they might be a lot more common, and the lab might have tested for those genes before. But interestingly, everybody actually has to have testing designed uniquely for them as a couple and for their embryos. Because for every single couple doing embryo testing, we are testing for not only potentially the variants that we're worried about, but also we actually tend to look for a lot of unique genetic variations around that gene that we're worried about, to be able to look for more than one piece of data as to which copy of the gene that the embryo inherited. So everybody actually has to have testing uniquely designed for them. But you're right, I mean, sometimes we, it can be a little more tricky if, for instance, the gene has never been tested before in that lab, or if one of the variants is one of those variants of unclear significance that we talked about where we're not 100% sure that it caused the condition, that can be a little bit more challenging to find a lab to do that testing. But everybody actually gets their own unique test.
Kristyn
I love that I think I and you know, I'd never considered it. And I totally should have, because why would anything be black and white? Why would anything put into a pre-made box, everything is going to be custom, that makes perfect sense that each test will be customized, to that specific variant. That does make a ton of sense, but I remember when we had the question of would they be to make the test for Luke’s specific variant and that being just another layer and another hoop we would have to jump through.
I will say and, this whole process was, it was so long it was so you know, taxing both emotionally and financially and physically. But how lucky How fortunate, we feel. And Kevin and I talk about it all the time, just how fortunate we are and how much joy we take from this experience. You know, just considering that we had the knowledge that so many parents don't have our timing actually was in our favor, by just a couple of years that we were on the right side of this variant being discovered that we did get those genetic results back. So we had information on our side, even if it was new and not as well documented. We had resources and means that we were talking about earlier, that we could pursue the path to future biological children. Based on what we have made as a family would be the right decision for us. We also found a you, which I think anyone who has listened to our discussion would understand it. You've just been an amazing resource and partner throughout the journey in helping us, neither my husband nor I have a medical background or education, so really helping us to kind of cram for this test, if you will. So, really going through the challenging battle of insurance petitions and appeals and final appeals. You supported us and really kind of helped us navigate that path. Honestly, I think insurance could have its own episode, its own podcast, its own genre entirely.
Marisa
Absolutely.
Kristyn
So we won't get we won't get into that. But it was definitely a part of our journey as well. And even after all of that we were just at the starting line. Or maybe even before the starting line. We were ready to begin IVF and PGT to see if we would be successful for all of those hurdles everything we had to clear each step of the way. And we were traveling this journey traveling this road, all while navigating Luke's continued health complications and conditions. which actually during that journey included an emergency open-heart surgery that we were not expecting for him. All of this while keeping our full-time jobs, our full-time lives, and responsibilities, all. And then on top of that, without really feeling comfortable or confident, to be able to really share this alternate universe that we were navigating with, really anyone outside of our immediate family. So that process, that journey is atypical, but it is not unique. We are not the only family who has gone through this, as you well know. Your job is to work with families who are going through all sorts of different variations of this journey that we have been on. And I was wondering, I mean, talk about a fulfilling career, I can only imagine the stories that you have in the patients that you have worked with. But what may be overall, or maybe something just very specific, brings you joy, about your career, or your journey?
Marisa
So it's been? Well, first of all, I, I am in awe of you and every single IVF patient, I mean, it is really important to remember that people who are going through these fertility treatments, they're not going through them in a vacuum, this is not the only thing happening in their life. You know, they may be dealing with the grief of infertility or other things in their lives, their jobs with their families. And IVF in itself, I feel like could be a full-time job, just managing all of the testing you have to do, all of the appointments, all of the medications. It's incredible that anyone can do it if they're not nurses or a doctor themselves. I mean, I am in complete awe of our patients. It's incredible. And you had a just a particularly just rough time with what you are going through with Luke and I can't I can't imagine the strength that it took. So I just my hat's off to you for keeping together. Or probably maybe not. But keeping moving forward at least.
Kristyn
We didn't. No. Yeah, no. Lot's of, lots of pity parties were thrown in my house during the this time.
Marisa
I mean, I think what brings me joy, I mean, genetics and genetic testing and genetic counseling. It has, it has a lot of tough moments, that's for sure. And you know, you're not always giving people the news that you wish that you were giving them. And so what's brought me joy has been different in my different roles. So in pediatrics, one of the things that was the most fulfilling was seeing how a family changed over time. And by that, I mean, you know, you go from this place of not knowing what the diagnosis is just knowing that there are these set of symptoms, and I'm sure all the time facing questions like, “What does he have? What does she have?” And you're just like, “I don't know,” um, you know, it's incredibly frustrating not to have that answer. But then getting the answer in itself. You know, it's, it's good news, but it can be distressing at the same time. But what was really wonderful in pediatrics was, after that initial diagnosis, and watching so many families, so many parents become these incredible champions for their children. They educated themselves so much they looked for opportunities to participate in research, they started Facebook groups or, you know, websites to try to connect people together with these rare conditions. And just watching these parents become such incredible advocates for their children. It was tremendous to see the strength in so many families. I just loved them all so much and I love watching the kids grow and change and kids are fantastic because you know, they don't know, they also don't know any different like we talked about how we didn't know we don't know any different you know, they don't know any different either. And the wonderful joy that so many of these children have and they're just being they're being them, like any kid is being themselves. I do I really miss that.
Kristyn
I know I can. I just got chills when you were talking about like the growth then, you know, hearing that back from someone who's always on the other side of, you know, at the table, if you will, as the parents, and you know, just we're perpetually treading water, right? We're just trying to keep everything going, we're just trying to keep our heads above water and, you know, really advocate for our kids. So seeing that recognized and you know, and then you have that gauge of overtime, you can see that growth and that strength. And so I think just as a parent, I really appreciate hearing that, and I love that that brings you joy.
Marisa
But you just I mean, you know, the parents are the quarterback of their kids team. And it's just, you know, that's the way that it is. And there's a lot of really good quarterbacks out there. I love I love that. Now, in my current job, that what brings me joy is super easy, which is baby photos.
Kristyn
Yes, I am sure!
Marisa
Honestly, it's really an honor to help patients build their families. And I know PGT isn't the right choice for everybody. And that's, that's how it should be. It's not the right choice for everybody. But it's an incredible blessing for those who wanted and I spent almost 10 years on the pediatric side counseling patients about what their options were if they wanted to have more children in the future. And I would always talk about PGT and so many people don't realize that that is even a technology that exists. And so, a lot of times with those conversations in pediatrics, you know, I would see parents' faces light up and be like, “Oh my gosh, that you can do that?” And so now to be in the fertility clinic and to be helping to make that happen for some patients, it's been just the most fantastic transition, and I couldn't love it anymore.
Kristyn
I loved that with your career move you became the next step in that patient's journey really, right? You were now helping patients pursue that next step. And, you know, there's, I think a lot about as Luke and Ozzie get older, how I will talk to them about the decisions that we made and about the, you know, about how Ozzie was born. And well talk about internal conflict, right. Parenting and communicating with your child is hard, especially when you are dealing with such a tumultuous subject, I suppose. But one thing that I've always believed and I think I will continue to believe and continue to pass on and communicate to my boys as they get older and more mature and able to understand this process was that Ozzie's health is truly a gift that Luke gave him.
Marisa
That's beautiful, that's so beautiful. And you're right. I could not have thought of a more lovely way to describe that. And what a beautiful thing for one of them to give the other.
Kristyn
I'll hold that for when they're not you know, pushing each other over for a toy. (laughter from both) We'll save that nugget. we'll save that piece of information, you know that sentiment for a time where they're able to work more profoundly process it, but it is truly what I believe. It's why I find joy in the decision that we were able to make and why I am so grateful for all of these stars to align truly, for it to be possible.
Marisa
If you don't mind, I might, I might share that for other patients.
Kristyn
I, I wish you would, I say can hope to, you know, be that? I don't know, be that rock for other parents instead. Yeah, that's, that's mine. One hundred percent.
Kristyn
So in the spirit of the Atypical Truth podcast, we always end with a favorite dream scenario. I'm so excited to hear about this from you, Marisa, because of the cutting-edge, newer field of genetics. So the scenario is, let's pretend for a moment that a miracle has happened overnight. And suddenly, without any warning, the world of PGT became the perfect and flawless system that you had always dreamed of. So without anyone telling you that this miracle had occurred, what is the first thing that you would notice that would indicate this change?
Marisa
So the first thing that I would notice, without a doubt, it would be expanded insurance coverage for both fertility treatments and for PGT. And I hope that I would notice a volume increase, not because I want people to have to come and do this, but because I want the people who have a potential need for it and decide that this is the right path for them. I would love to see the end of finances being the burden to people choosing the path that they want. I have had some absolutely heartbreaking cases where couples have had children with diseases that put their child in the NICU for months and months and months cost millions of dollars. And we can't get their insurance to pay for one round of IVF with PGT for that disorder, to prevent the same thing from happening again. I don't know what the calculus is there because even if you want to take out the humanity side of it and just argue dollars and cents, it makes no sense at all that insurance companies deny families like that. And it's so frustrating because then they're left with either not having more children at all, that they wanted. Or doing genetic testing during pregnancy, which is a perfectly great option but might not have been what they thought was best for them. And it's just, it breaks my heart. And the idea that some people can't build their families in the way that they're most comfortable with is unacceptable and I hope that I see the day when this miracle becomes a reality. I know that there are many people out there working very hard to expand coverage for fertility treatments, and for things like PGT. And I hope, I hope, I hope that that is something that I see in my career, when there can be a lot more folks coming to me without that part of the journey being difficult.
Kristyn
Marisa, I think I can speak for any parent who has gone through any level of this where they're you just I hope you felt a resounding yes. Across because I couldn't agree with you enough receiving an insurance denial letter saying that this was an elective procedure, or an elective process that we were pursuing after paying so much medical bills with our first and you're so right even on the dollars and cents which let's be frank that's where the calculations are being made right on the insurance side. Even then it makes sense and let alone that humanity in the fact that only the most privileged in our society, as we define it, get to have access to something like this, that would make sense for anyone who is seeking it.
Marisa
I couldn't agree more.
Kristyn
I love that you said that I so appreciate that, like part of my angst, appreciates that. It's so true, it is.
Marisa
In no way impacts me the same way that it impacts the patients who get those denials. But I will tell you that I have a lot of rage!
Kristyn
Yeah, I mean, you're on the team!
Marisa
Yeah, I have a lot rage towards the insurance company that times and, you know, it's, it's a huge time burden to advocate on behalf of our patients to try to get those things covered. It's so worth it to do. But it's so frustrating when things are what I feel to be fairly crystal clear, to be medically necessary, they're being recommended the patient, this is their choice, and we can't get it done. And, you know, the idea that patients are either facing, you know, crowdfunding something or just not getting to build their family in the way that they want to that this is preventing them from doing it, or they're going into incredible debt, we should all be infuriated about that. You know? No one should be facing that type of decision when they're talking about building their family. We should be ashamed of the fact that things are like that. And we really should, and we should do everything that we can for our individual patients when we're helping to fight those battles. But we should also be doing what we can to advocate to our insurance companies, to our employers, to our legislators, that we need expanded access to fertility treatments, there is nothing more important than a person's health and fertility and family building our health, health care. This should not what stops people.
Kristyn
We couldn't agree more. And I, I so agree with you on the policy change and that this needs to be top-down. We need to stop having to fight individual cases. This needs to be yes, policy, legislation, everything. Everything needs to be on that whole systemic level. So I love that. And I'm so glad to hear your perspective, from the clinical side to being the same.
Marisa
Yeah, I just wanted to say thank you so much for giving me the opportunity to talk about genetic counseling and to talk about PGT. And I hope that for anyone out there listening, who might be considering this choice, I hope this was helpful. And I hope that you are able to connect with someone. So you can always contact local fertility clinics, if you're looking to speak directly to a genetic counselor, you can look up the National Society of Genetic Counselors and they have a find the genetic counselor tool on their website. So you can actually use that to input your zip code and what type of genetic counselor that you're looking for. So whether you might have a child and are looking for a pediatric genetic counselor or geneticist or you're looking for someone in fertility law can be a resource to help you find someone who is a certified genetic counselor to hopefully answer questions for you and to guide you to whatever answers you might be looking for.
Kristyn
Thank you in return to you, Marisa, it's been a pleasure to have this discussion. We have known each other for quite a while now. And you know, known at least you've known lots of details about my life and shared some about yours, but we really did have never had the opportunity to just sit down and talk about a lot of these details. So I appreciate the opportunity to do that. I'm sure you have connected to listeners who are going through or are connected to someone going through this experience. And if you are connecting with other listeners, you are educating them in a way that now I know I have learned a lot even though I have gone through this experience. I've learned a lot in this conversation. And so for the listeners out there who have never even heard of PGT they now have I have so many great tools and resources that when the time comes, they will empathize and relate. And they will not isolate and it just takes a step toward this mutual understanding that we're all just doing the very best we can. Absolutely. So I appreciate your time.
Marisa
You're so welcome and I'm still learning all the time too. I still have things that I learn every week that I'm like, “Oh my gosh, how did I know that?” So it's so it's continuous.
Kristyn
So true.
Marisa
Especially with genetics so you are my patients are not alone in that I'm always learning to. My job is one of the greatest joys of my life and I couldn't be more grateful to have found it. So yeah, the feeling is mutual.
Erica
Atypical Truth will be back with the next episode in two weeks. And as I have mentioned before, this upcoming episode is kind of like part 3 in volume about rare diseases, family planning, and pe-implantation genetic testing.
The beautiful music that greets us at the beginning and end of each episode is performed by my favorite contemporary music collective Amiina. The original cover art for Atypical truth was designed by Kendall Bell, and the cover art designed specifically for Kristyn’s story throughout season two was designed by Eric McJilton. Links to the artists can be found in the show notes.
