Pooja: Welcome to another episode of let's talk about P 10. I'm so excited to have Dr. Suzanne McFarland here with me today. Dr. McFarland is a pediatric oncologist at the children's hospital of Pennsylvania. Who has done a lot of really incredible work specifically with patients with P 10. As well as a number of other pediatric cancer, predisposition syndromes. Today, we'll be talking about her team at the children's hospital, Pennsylvania differences and adult and childcare. Advice for parents and physicians. Thank you so much for listening in today let's get into it

Thank you so much for joining us today. Just starting off. Can you tell us a tiny bit about yourself and how you came to have a focus on P 10??

‍Suzanne: Sure. I'm a pediatric oncologist at the Children's Hospital of Philadelphia. I've been practicing out of training for about six years now. And, sort of starting during my training, I developed an interest pediatric cancer predisposition syndromes. Wanting to understand why children develop cancers, and what we can do to catch them earlier, prevent them. And it was in this work that I actually started to see patients with PTEN.

Early in seeing them, noticed that they had, um, really variable clinical presentations, so no patient was quite like the next, uh, but there were certainly some patterns, that we could see, and one of the big patterns was that a lot of these patients require multiple specialists, so, um, you know, in pediatrics, cancer is really not, well, it may be a worry, but it's not one of the major issues.

The biggest things that we worry about medically, because the risk is still very low in childhood.  but having a good dedicated thyroid specialist, having a developmental pediatrician, um, having many other specialists available to families was really important. And so that noticing that need, that was, um, what.Um, led me to develop the multidisciplinary pediatric PTEN clinic that we have at CHOP to make things easier for families to help them to get the care that they need and to bring together a team of specialists to really understand PTEN and have seen enough patients to really be familiar with all the different ways that it can present.

‍Pooja: Yeah. Um, and can you talk to me a tiny bit further about your P10 clinic? Um, who it really consists of and how you kind of got that started.

‍Suzanne: Sure. Yeah. So it was, um, you started mostly as a collaboration between myself and Andy Bauer, who's one of the, uh, pediatric endocrinologists here at CHOP. Um, he runs the thyroid center and he is, um, just an incredible, uh, physician.Um, you know, won many accolades for his clinical skill. Um, and he really has the. the ability to do an in person ultrasound and really give real time information about, um, cancer risk in, in patients with P10, which I think that, um, I think that's a huge, huge service, um, for these families. And so, um, he and I wanted to start seeing patients together on the same clinic day and then thought about other specialists too.

So we were lucky enough to recruit, um, Dr. Emily Shabison, who's a developmental behavioral pediatrician. Who does clinical evaluations on most of the patients that we see in the clinic. Um, and that's regardless of age. Um, and then we work with Dr Melanie Ruffner, um, from the, uh, Department of Immunology, um, who sees the patients who have, um, any concern for or have developed any differences in their immune system.Um, we also work with, uh, Dr, um, Denise Adams in the Center for Vascular Malformations, um, because patients with, uh, PHTS can develop vascular malformations that require treatment and often require their own level of multidisciplinary, um, clinical care. Um, we partner with her clinic and actually tend to see patients on the same days that they can see both multidisciplinary clinics.Um, we also work with, um, Katie Taub in, Dr. Katie Taub in neurology. Um, And, um, the variety of other subspecialists, Dr. Peter Mamelet in gastroenterology. Um, I'm sure I'm forgetting some people, but, um, you know, really any specialty that we're, I think the real core of our clinic is that we work with a clinical coordinator, um, Allie LaRocca, um, who really is just phenomenal at bringing together any subspecialists we might need.

Um, and I think that's really the key is, is that we can get. patients to see, um, you know, up to, I think the most we've, we've seen is eight providers in, you know, a day and a half of clinical time. Um, so if they're traveling from out of town, they really can see many providers, get many opinions. We have a multidisciplinary case conference.We talk about them all together, um, so that we can really have a coordinated approach.

‍Pooja: Got it. Yeah. , I think your kind of ability to bring all these folks together and create that kind of quality of care is really amazing. , and I guess as a follow up question in speaking to parents that are caring for children with rare diseases, I found that some are really concerned that their physicians have never seen that particular diagnosis before., do you have any advice for, , parents in that situation?

‍Suzanne: Yeah, I think that's so hard. I, I really empathize with that, with that struggle because it really, uh, you know, often I find that parents of children with a rare disease end up being the teacher, um, when they go to see physicians. Um, and that's really, that's really a difficult place to be in.Um, you know, I would say, um, a few different things. I think that, um, you know, first of all, parents are their child's best advocates. So as hard as that is, and while that shouldn't be a responsibility, um, just know that, you know, we appreciate how, how much work you're doing, um, to make sure that your child's rare disease is being treated appropriately.

Um, I would also say that specialists in PTEN, even if you don't have one nearby, um, we're always happy to talk. We're always happy to, um, you know, do what we can to work with your local providers, um, to make sure that, you know, everything is following. Guidelines and that, you know, if there is a rare presentation within a rare disease that we're talking together, um, so that we're learning more about it, um, and then I, I think I would also say that, um, you know, while, while every pediatrician may not know a lot about P10, a lot of pediatricians are so, you know, motivated to learn more.Um, and so, you know, Um, even if it's feels like you're teaching in the beginning, um, you know, a lot of pediatricians will, will put in the work to understand the rare diagnosis. Um, and so I really, um, you know, can't say, I don't, I can't express enough my respect for primary care colleagues who have to learn about so many different things all of the time.

‍Pooja: You've obviously created what is a really amazing care team within your P 10 clinic. And for those who, for example, are living far away from a clinic or don't have access to that type of care. Um, who all needs to be involved in a care team once a PTEN diagnosis has been made

‍Suzanne: um so I think, um, you know, having an endocrinologist who has expertise in the pediatric thyroid, um, is, is really important. Um, and I'd say that's probably the most important in pediatrics. Um, so we are so fortunate here to work with Dr. Bauer. , I would also say that, , you know, the more patients I see, the more convinced I am that having a developmental and behavioral pediatrician involved early is really important. Patients with PHTS have such a variety of developmental, , differences and a lot of these patients also really excel.

They do really well in school, they have very high IQs, um, but still might need some additional supports in terms of learning and behavior, um, or might, might, um, you know, have other things like, um, anxiety that, that Need for ADHD that needs some support.And so, um, not every patient, certainly, but I do think that having somebody on the team who can do that evaluation, um, and really offer those, those additional, uh, pieces of advice early on is really helpful

‍Pooja: so working specifically with children slash young adults. Um, if they are able to, at what age do you recommend that they're able to get involved with their own care? And what does that really look like?

‍Suzanne: I, I encourage it from the very beginning. I mean, I, I think that all within, um, you know, within a taking kind of a development as a pediatrician, you know, taking a developmental perspective, um, and trying to think about really, um, you know, how old they are and what, what their expectation can be to understand, um, their condition.Um, you know, so I, I always encourage, you know, from a pretty young age for, um, children to answer questions about their health, how they're feeling, , , you know, to ask questions about why they're there.

I also usually have either checked in with the parent ahead of time or know something about how much they know about their diagnosis because, you know, sharing, um, information about, uh, PHTS in an age appropriate manner is something that we talk a lot about.We want to make sure that we're giving information so that the child can feel, um, comfortable with the number of visits and, and having to see many specialists. , and understand why they're being asked to do that while not overwhelming them with information that might be beyond their, , you know, sort of ability to comprehend.Um, but I don't want to also say from a pretty young age, starting around 11 or 12, you know, that's when adolescents and, and, and preteens start to really take over, um, their health. And so, you know, I encourage them to answer as many questions, to ask as many questions, to really, um, take hold of their medical information as much as they're able.Um, and then of course, accounting for developmental differences that we see. Within P. H. T. S. Um, you know, thinking about, um, keeping the parents involved where appropriate, um, as the child gets older

‍Pooja: um, and I know when we talked, um, talked before, , you spoke about your approach in being conservative with interventions., could you expand a little on that further?

‍Suzanne: Yeah, of course. So, um, I mean, I think when, whenever somebody hears that, that PHTS is a cancer predisposition syndrome, that's, that's the scariest thing for a lot of parents. That's, that's really, um, really worrisome. And so I think that the important thing that I try to emphasize is that Cancer risk itself in childhood is incredibly low.Um, really the, the main cancer we see is thyroid cancer. It's a very small percentage of patients. Um, and so the important thing is just making sure that families are well informed and are, um, uh, getting the, the routine thyroid surveillance. Um, and when I say conservative, I think, I think just thinking about the fact that many of the growths and, and you know, tumors that we're going to see in childhood are, um, are going to be um, very, very benign.Um, thinking about the best way to understand what they are without being In interventions, so not doing anything that's going to be overly morbid is going to cause complications. Um, if we have a good reason to believe that something is benign, um, you know, obviously doing the best we can to make sure we are, you know, in the rare case that something is malignant, um, being as aggressive as need be, um, to, to treat the problem.Um, and I think the best answer of this is really, you know, what I've learned from my colleague, Dr. Bauer, um, in dealing with pediatric thyroid disease, because, um, you know, the.

Majority of patients that we see in clinic are going to develop thyroid nodules as they get older, um, and differentiating the nodules that are concerning versus those that, um, are not.So the ones that require biopsy, the ones that might require a thyroidectomy, um, is something that he is very, very good at. And I think that, um, a lot of times, um, with when people have not seen a lot of, uh, PHDS. There's the instinct to remove the thyroid early, um, and I think really thinking carefully about that while still being sure to be aggressive when need be, be aggressive when things do look like they might be malignant.So really striking that balance.

Pooja: Do you have any advice for physicians who are seeing a P 10 patient for the first time?

‍Suzanne: Yeah, of course. So I think that for, for physicians who are seeing their first P10 patient and remembering seeing my first P10 patient, um, I would say that there are a lot of resources out there that they can, , they can rely upon, , to learn more. So I think some of the big ones I think about are, are within, um, the Cleveland Clinic's website.Um, you know, Sherris Eng is just. Done a remarkable job in terms of, um, developing patient education resources, um, through her, her long-term efforts, um, uh, both in the research and clinical worlds, uh, with, with PHTS, um, and so I think that their website can be really helpful in terms of. Thinking about, um, uh, the variety of ways that patients with PHTS can present, um, there are also some really good review articles out there.I think when I think about, you know, I'm an oncologist, so I think about it from the cancer predisposition perspective, um, the American Association for, uh, Cancer Research put out some guidelines a couple of years ago. I think that those are incredibly useful in terms of how to think about Um, screening and counseling families regarding cancer risk.Um, so those are some of the things that come to mind. Um, and I think just never being afraid to ask questions. Um, I think also just as an oncologist, um, you know, I, I always rely on my genetics colleagues when I see a patient with a new rare diagnosis. And so, um, knowing that you have people that you can, you can discuss patients with, um, in the world of genetics, you've probably seen a good number of these patients before.

‍Pooja: You work specifically with children. How does that differ from working with adults with PTEN?

‍Suzanne: Um, so I would say, you know, for children, um, the, the need for multidisciplinary care is really there, and I'm sure that's true for adults as well. Um, but just thinking about, um, you know, the fact that developmental differences that we see and, and, you know, the range of, of autism spectrum disorder.Can be very broad. Um, I think that early involvement of a developmental pediatrician is really important. Um, and so, um, I, I do think that that is something that, you know, with whenever I think about child development, I think about how important it is to understand early, um, what the differences are and how we can be supportive of that child's, um, growth from that point onwards.And so I think that that's something we really think about in pediatrics. That probably is not as much of a, an issue in adulthood. Um, I think the other probably big one is just the, the risk of cancer is so low in childhood compared to an adulthood where, you know, absolutely not guaranteed that somebody will develop a cancer, but the cancer screening does become more intensive.Um, and so I would say that, you know, in childhood, a lot of the things that we will see are benign, um, and in adulthood, not that there's going to be a lot of malignancies, but that the risk is higher. So that does shift, um, shift the perspective of care a little bit.

‍Pooja: And finally, as a physician, uh, what is the one piece of advice you would want to pass on to an individual or family who is grappling with a new P10 diagnosis?

‍Suzanne: That's a really good question. I mean, I think that, um, you know, my biggest piece of advice would be to hang in there, um, and that there's, there's a really good community.Um, you know, I think having worked with the, uh, PTEN Foundation, worked with Kristin Anthony , I can see, um, you know, how strong, um, the support is and, and how much having other families to talk to can be helpful. Um, and, and I think that Just, um, there's a lot of information to process and every single child, every single person with PHTS is different and, and has different, um, manifestations of disease.So not to get, um, not to get ahead of oneself in terms of, of predicting the future and knowing that everybody's gonna be a little bit different.