From Before Birth to Building a Long, Healthy Life

A mom and a pediatric cardiologist have a heart-to-heart about the increasingly positive outlook for patients with Fontan circulation.

Thank you to Beth Daddario and Dr. Jack Rychik, MD, for partaking in this interview.

The Fontan Rehabilitation, Wellness, Activity and Resilience Development (FORWARD) Program aims to improve the quality and duration of life for single ventricle patients. It is important that parents of these patients ask questions and educate themselves early on to help their child have the best outcome later in life.


From Before Birth to Building a Long, Healthy Life

Beth Daddario: Hi, my name is Beth Daddario. I am part of the Family Advisory Council for Children's Hospital of Philadelphia. I'm excited to be here at Cardiology 2022 and even more excited to be here with Dr. Jack Rychick.

Jack Rychick, MD: Hi, my name is Jack Rychick. I'm a pediatric cardiologist at the Children's Hospital of Philadelphia. I wear a couple of different hats.

I am the Associate Chief of the Division of Cardiology. I am the Medical Director of our Fetal Heart Program. More recently, last few years, play the role of Medical Director of our Fontan FORWARD Program, a dedicated clinic for individuals with a Fontan circulation.

Beth Daddario: Perfect. Thank you. As someone who has been involved with the cardiac world for 30 years, both of us, that would be.

Jack Rychick, MD: Correct. Yeah.

Beth Daddario: And we both have seen lots of changes throughout the years, and fortunately, a lot of progression. What would you say has been the greatest challenge caring for a child with single ventricle?

Jack Rychick, MD: 30 years ago, we did not have the prevalence of prenatal diagnosis that we have today. More times than not, the detection of a complex form of congenital heart disease, like single ventricle was a sudden shock to a mom who was trying to celebrate and the family trying to celebrate the birth of a newborn. Sort of having your world turned upside down and trying to grapple with that information and learn what you needed to learn and begin this forced, violent entry into this world of surgical correction and a need for intervention, and then ultimately an accommodation and a learning process that would then shepherd you along. Today things are quite different, and through 30 years of experience, not only have we improved the technical aspects of what we do, but even more so now through the advent of fetal imaging, we do something that, might seem pretty minor, but is I think critically important and that is prepare families. And have them aware of what they're going to be facing. And to help support them in those challenges that we know the family's going to face. Help shepherd the delivery of that child, help educate families, again, for families who in most circumstances are not familiar with the world that we deal with on a day-to-day basis of congenital heart care, intensive care units, echo labs, frequent outpatient visits, et cetera, et cetera. So that's a major shift I think that's happened. When I started out doing this as well, just as a reflection of the strategy, we didn't know that we needed to do a bidirectional glenn, for example, to improve outcomes as part of the overall strategy. I remember very well as a fellow in 1990 when we had our group conversation with our surgeons about the outcomes going straight from a initial staged operation, stage one, to a Fontan, were not very good.

What can we do to try and improve that? And it was Bill Norwood at the time, and Marshall Jacobs, who were brainstorming on this and said, no we're gonna do half of a Fontan first. Other centers was similarly doing that at the time but I think CHOP was probably one of the very first centers to systematically bring that into the care for these patients, so a lot has changed. Prenatal diagnosis, changing the strategy of how we do the operations themselves, improvements in the technical aspects of the operations. And now we have the blessing of a generation of individuals who have gone through that, survived it. And we could not have imagined 30 years ago of the question of now what?

But the question is, now what? Now what can we do to improve the quality and duration of life of these individuals? And here's the answer to your question. That's the challenge at the moment is how do we get to not just survive, but to thrive. To have these individuals thrive and achieve our next objective, which is to provide them with the best quality and duration of life that we can.

Beth Daddario: So you're responsible in so many different ways, from the fetal heart aspect. Then you have the single ventricle, and then you also have the PLE population. All of them have their own challenges. All of them have their own conversations with parents and with families. Which segment would you say is almost the hardest to have the conversations with the families?

Jack Rychick, MD: So there, there are three domains. There are three interesting domains Beth, and the way I look at it is, two of them are linear in the sense that what happens in the fetal world has its own challenges. What happens in the Fontan circulation world is what happens next, from a time perspective. We're following our single ventricle prenatally diagnosed patients forward.

PLE is a bit of a diversion that not all of our patients fortunately fall into, but some do. Ten percent of our patients with single ventricle that we now know end up with some degree of lymphatic insufficiency, either protein losing enteropathy or plastic bronchitis. And in the current era, we are beginning to develop more effective strategies for management. I think prior to perhaps the last three to four years, we were still struggling with that. So when it comes to having conversations with families, PLE is a complication. It's a diversion. It's an unexpected side road that a subsection of our patients take.

But overall, the way I look at combining those three areas, which you've outlined, have sort of been my areas of interest and focus, is that I think we're now in the realm of thinking about what we can do prenatally to optimize the lifespan course for individuals with these types of complex conditions. And that narrative, that mindset, didn't exist previously 30 years ago. If we connect the dots there, it is connecting okay, what do we need to do to improve prenatal health, get a better understanding of placental function, do things that we know are going to be an investment, that can modify some of the complications, like PLE, for example.

It's a model. Might we learn something about modifying the prenatal state that can reduce or eliminate the complication of PLE, protein losing Interpathy, or some of the other complications? Liver fibrosis or learning issues that we now know is very much intertwined with single ventricle.

And I'll take that as an incredible example. There are some thoughts now that may be improving upon some of the placental dysfunction that exists. Can improved nutrition and oxygen delivery to the developing fetal brain, and thereby improve and invest in a better outcome in that first grader and young adult who we know is at risk for neurodevelopmental challenges?

But here's a way that we can begin to modify that at the outset. All of this is still expanding. All of this is still lots of gaps in knowledge, if you will. But this is how I see connecting those dots. People often say you're quite a fetal doc. You take care of patients in the fetal program, but yet you're still seeing my 18 year old and now I'm old enough where I'm seeing that 18 year old.

And it's the same patient who was fetus, who's now 18 years old. But my own experience in connecting those dots, I think gives me insight into knowing that there are things that we can do now prenatally as an investment for the next generation of patients who are gonna be growing into adulthood. A lot of exciting things that we're contemplating, and I think there's a very bright and optimistic future as it comes to changing the outcomes for these individuals.

Beth Daddario: Absolutely. I know I was very excited and sitting in on the Fontan lectures that were going on, and I know part of the objectives had to do with the solutions that are most helpful, in addition to the ones that you have shared as far as things we look forward to, are there any other solutions and caring for the Fontan that have been nuances for you to ponder?

Jack Rychick, MD: Yeah, couple of very, concrete things that are ongoing right now that are things that concurrently improve on outcome and things that we know will be an important investment for future outcomes. So right now, exercise. We used to think, you have a heart condition, take it easy. Don't push yourself, make your own limits and that sort of thing.

I certainly remember that being my own recommendation to many families years ago, but it was wrong. It was actually wrong. What we now know is that many of our patients are deconditioned, in particular, those with single ventricle and Fontan circulation, and that in fact, conditioning them, exercise, increasing heart rate, improves vascular tone, improves cardiac function, improves overall wellness for these individuals, and is something that we need to promote. There is a concern, we heard another talk the other day about sudden deaths, sudden events in athletes and we have mistakenly extrapolated from that and brought that sentiment to our single ventricle patients.

Dr. Jonathan Dresner had talked about this. The athletes who are having these events, they don't know they have this problem ahead of time. Screening EKGs might help and that sort of thing. My goodness, our patients with single ventricle are known. They've had their echoes, they've had their EKGs, and these sudden events, by and large, do not occur in this population.

So there's no reason to be restricting them. We have inadvertently been, I think, harming some of our patients with those recommendations. It is interesting. There has to be a culture shift in the community because people are still, parents are wary. Healthcare providers are still somewhat wary, but the data's beginning to emerge that's making a difference.

So exercise is critically important. There are some medications that are specific for Fontan physiology that are still undergoing testing. There's a particular agent in front of the FDA and they're asking for more data as it relates to the efficacy of this particular agent. I think that's, not an unreasonable thing to do because if we're gonna make a recommendation for a specific drug we wanna have the data that supports its utility because there are many, many agents that are being used now where there is no data.

And in fact, some of the data says it's probably not helpful. So we do need to do our due diligence. I think that's on the near horizon. One thing that's very exciting, is in order for us to best understand what needs to be done for patients with single ventricle, that we need to collaborate across centers and that creating large registries and databases and learning from each other is going to be key to improving overall outcomes. So something called the Fontan Outcomes Network has now formed. Many of us are involved in the leadership of this organization, the goal being to recruit, in the next three years, 10,000 individuals with the Fontan circulation across the United States, and to catalog their lives and simply by understanding what's been done, how they're doing, and looking at events in their lifespan, we'll be able to map out why it is that a particular individual patient does spectacularly well. And in fact, many are doing spectacularly well. Why aren't all doing spectacularly well? What is it that's leading to why a particular individual patient might be doing well early on, but then fail?

Why might they develop PLE and fail or have heart failure or severe liver fibrosis, which again is rare, but does occur. Fibrosis is present in all patients, but significant severe liver fibrosis, quite rare. But it does occur. What leads to those particular outcomes? By cataloging large numbers of patients, will be able to answer those questions.

So I'm very excited about the developments of this registry.

Beth Daddario: I was excited as one of the presenters were sharing information on the FORWARD Program and acknowledge that failing Fontan team to get a lot of the attention, but they're really more well Fontan. Yeah. And I think that's an exciting truth of where we've gone in medicine.

In addition to coming up with the collaboration and the national registry, what would you think would be the greatest accomplishment in caring for that patient with a Fontan circulation?

Jack Rychick, MD: If we can map out a particular course that we know optimizes an outcome and then replicating those directions to others, I think that would be one of the most important achievements and goals. In the same way now, that if I need to get from Place X to place Y, I put it into Google Maps or MapQuest or what have you. I get directions. If I put it into Waze I can find out how much traffic there is. So to a similar degree, we need to be doing that, to map out the lifespan recommendations for individuals with single ventricle, because we know what the destination is. The destination, again, as close as possible, a normal quality and duration of life. And many individuals with single ventricle will achieve that sort of randomly.

But if that is so, and that is a fact, how do we direct more individuals to take that path? Similarly, we know that some. Will end up requiring a transplant or some additional therapies. In the converse way, understanding who's heading in that direction, as early as possible, I think will be important as well.

Either to divert them from that path or to optimize their outcomes on that path. And there was a discussion earlier today also about the general reluctance to think about transplantation and to almost consider, it to a degree, of failure in some way. And it's not the optimal path at the outset, but yet if that's where reality is taking a patient, how do we best make that patient have the best optimal outcome possible on that route. And it starts with earlier identification and initiating strategies to improve their state.

Beth Daddario: Absolutely. As we finish up our visit today, what do you think is the best advice you can give to a family member?

Jack Rychick, MD: Seek out proper healthcare providers that one can build a relationship with. I think in the pediatric cardiology realm, that's more of the common rule than an exception because as providers we're all in this because we're pediatricians. We love kids and those of us who are doing cardiology, we love kids.

And we wanna care for the kids who are potentially the sickest, so we can make the biggest difference. It's easy to find passionate people who you can partner with, but I think for families it is identifying that they're a partner. So the old thinking of, there's the doctor that you go to and that's on a pedestal that may or may not deserve to be on that pedestal and, you come to see them, once or twice a year.

I think that's history. The most effective and most satisfying for a healthcare provider, I think most satisfying for a patient encounter is, when there's a sense of partnership, because there are so many other things besides just prescribing a medication or looking at an echocardiogram, reporting it, or getting an ECG that is helpful to the patient and to the family.

The best advice is for families to, again, identify the right partners, to see themselves as partners, to confirm that their providers similarly respect that partnership. And within that setup of partnership, ask questions. Something's not clear, ask it again in a different way. Seek out additional educational materials.

Having single ventricle congenital heart disease is a lifelong condition that is not restricted just to one organ or one person. It does affect the entire person and the entire family. And I think as time is progressing, we are beginning to appreciate the need for a team effort on the part of providers and if a cardiologist, and again, most of the time a cardiologist can't fully provide all the services that are necessary, I would encourage families to seek out teams where there might be additional resources available. So mental health providers? Psychologists, nutritionists, other specialists that are knowledgeable in the liver or growth or other Fontan-related challenges. We live now in a totally different world of information.

Folks can go online, find good information, if they go to the right sources. So a little bit of digging, but I think, it's not too hard to find. And really look at establishing a partnership with your providers as you move forward. I think that's probably the most important thing.

Beth Daddario: Perfect. I wanna thank you for being my partner and thank you for joining us today.

Jack Rychick, MD: Thanks. Thanks, so much for the opportunity.

Related Centers and Programs: Cardiac Center, Fontan Rehabilitation, Wellness, Activity and Resilience Development (FORWARD) Program