Pooja: Hello, and welcome to the first episode of let's talk about PTEN. Today, we'll be talking with Kristin Anthony, who is the president and founder of the PTEN foundation. We'll be chatting about Kristin's goals for the PTEN community resources that the foundation has available and about the clinical centers for excellence. Thank you so much for listening in today and with that let's get started

‍Pooja: Thank you so much for joining us, starting off. Can you talk a tiny bit about why you started the foundation, and what it really means to you?

‍Kristin: Hi. Absolutely. I'm excited to be here and thank you for having me. Um, I started the PTEN Hematoma Tumor Syndrome Foundation, or affectionately called PTEN Foundation for Short when I was personally affected.Kristin: By the disease. I was actually diagnosed in 2011. I had the opportunity, , to go to the Cleveland Clinic. I learned at that time there was very little, um, , community advocacy going on and very little support for this particular disease. Um, so from that fantastic meeting at the Cleveland Clinic, I went home.

And the short, short version of the story is the foundation was born from that and we now serve an international community. Um, we'll talk a little bit more, but I'm super proud for some of our research programs, including our patient reported outcome registry. I. You can go to that@ptenregistry.org. Um, and a lot of other exciting things.

‍Kristin: So yeah, that's when the foundation was born.

‍Pooja: And can you tell us a tiny bit about what your top priority is for the Pommunity?

Kristin: My top priority for our community is to see research move. Faster. And to that point, I also think it's extraordinarily important for the patient community to be involved in.

As much of the development of research, the progress of research, all the way to, um, clinical trials at the bedside, I think we should be involved in every aspect of that because the patient experience matters in particularly in these rare and genetic disorders like ours. There's not a lot of information, so I, I really, really think it's important to engage the patient community.

Pooja: You mentioned getting more involved with research as one of the most valuable things that those in the community can do, to kind of advance our understanding of PTEN. How do you recommend that folks start to get involved? And are there any resources that you can recommend. for this.

‍Kristin: Absolutely. So currently we have, um, a few clinical trial options and, uh, the best way would be to reach us directly. You can email me, Kristen, that's k r i s t i n, at pten p t e n foundation.org.

‍Pooja: And I can drop it in the resources section of this as well.

‍Kristin: Awesome, fantastic. And then we can get our patient community connected, um, with the different research studies. Also, we like to keep our patient community informed about new research and upcoming research through our patient reported outcome registry. We put notices through the registry. You can again sign up with that registry@ptenregistry.org.

‍Pooja: And how do you feel about the direction of research right now?

Kristin: Um, I think we've made extraordinary progress in research. I'm very grateful to the research team. Some of them are clinical centers of excellence for us, um, but I would like to see the research move faster and I think. Collaboration, data sharing, working together, and most important, engaging our patient community are key aspects to seeing that goal become a reality.

Pooja: Another question that I have is, , for folks who have recently been diagnosed with PTEN or maybe have a loved one who has been diagnosed with PTEN. I'm sure that the foundation's website is one of the first, places that people really land on. What would you say, are maybe your pieces of advice for people who are, just starting to go through this?

‍Kristin: Um, having been there myself, I know that the diagnosis is scary. For, for many of us, sometimes it, it takes four wrong diagnoses to get to the right diagnosis. So you've probably already been through a long journey, I would say.

You're not alone. There is a whole community behind you and there's a community of advocates behind you. We have, um, more and more researchers that are interested in our disease. , I really believe there will be treatments and options in our lifetime. , but just take every day, one step at a time. And if you have questions, reach out to us.

Pooja: If you had one wish, for the PTEN community, what would that be?

‍Kristin: I, one wish that I would have today, right now for our PTEN community is numerous treatment options, so screening and prevention. Weren't the only, methods of staying healthy, that we have my optimism leaning on. My optimism. I believe that treatments will be available, um, in my lifetime for our patient community.

‍Pooja: So one of the really important initiatives that the P Foundation started, , was the clinical Centers of Excellence for PTENcan you tell us a tiny bit about them?

‍Kristin: Yeah, absolutely. , so we are really fortunate to have an amazing medical advisory board, and I went to the chair of that advisory board, Dr. Ing with the Cleveland Clinic, and told her that I, um, wanted to see better care for our patient community and that I felt clinical centers of excellence were. A key part, um, on the journey to better care and we worked with our medical advisory board to come up with, a specific application, pro process for clinical centers of excellence that ensure because. P hematoma. Tumor Syndrome affects so many organ systems that clinical centers have experts in each of these fields prepared to treat our patient community.

I'm excited to share that. Cleveland Clinic, children's Hospital of Philadelphia. Boston Children's Hospital are all currently clinical centers of excellence and we've had one international center reach out to us and also another center, um, in the western part of the United States reach out to us that we are gonna be working with. A key part of making this program successful is hearing from our patient community. So what we are gonna be doing is , a review every two years of our Center of Excellence program. And as part of that review, we are gonna survey our patient community to understand their patient experience at the Clinical Centers of Excellence. Um, So be looking for that in the future. And we're gonna be working on, um, also different ways to ensure that our patients are, um, receiving top care at our clinical centers of excellence, but also we wanna train and educate other clinical centers on what the needs of our community are. And that comes back to the patient experience.

‍Kristin: Back to one of the reasons we are holding this research approved patient registry is so that we can learn more about our patient's experience. Um, additionally I will add that we are very excited along with, um, funding from P Research, one of our fellow organizations and also PTEN Italia, which is involved in this process.

‍We are working with top, um, research professionals from around the world to develop internationally Agreed upon. Academic. I should say academic international care guidelines to ensure that care not only in the United States, but. In Europe, in Asia, and other countries as well, , are equal that our patients are getting the best care that they possibly can.

So with these academically agreed upon care guidelines, our um, patient community will have the ability to take these guidelines, take it to their medical professionals, and ensure that care is. What it should be. Um, today we have the National Comprehensive Cancer Network and we will provide this resource to you, um, on a link where you can get current care guidelines for, um, PTEN hematoma, tumor syndrome

Pooja: So you talked about creating the PTEN Foundation as you were discovering a lack of existing community. But obviously during this time period you were also dealing with being newly diagnosed yourself. Uh, could you tell us a tiny bit about that experience as well as how you went about finding the support that you really wanted?

Kristin: , yeah, absolutely. Um, so back to my earlier point, you know, the diagnosis can be really scary when you're faced with the idea that in your lifetime you can develop multiple cancers, and then you also learn that it's a genetic disorder. So where did this disorder come from? And if you have children, do my children have it?

Um, I want to, share a little bit of background with folks. Um, Not everybody processes the information of that they could have a genetic disorder that would be chronic and could lend toward cancer or other, um, health concerns. So when you share with your family initially, if they don't take up that information and run to learn to see if they have a diagnosis.Kristin: Give them grace and understand that it's a process for everybody , and people don't deal with the information in the same way. You've educated them, you've done the best you can do.

Um, so give yourself grace with that. And then in terms of community, I wanna share that, um, we host almost annually now, um, international meetings and we do our best as a foundation to give as many people.Kristin: As possible a possibility to travel to those meetings because we know it can be expensive and some of you are single parents or have different things that you're working on, and you might not be able to travel to those meetings. So these are the best opportunities to learn. To meet with other friends and family.

We often have a friends and family get together, uh, where everyone can get together during these meeting events. It was just life changing for me. Um, and then I would also say that there's several great Facebook groups out there. If you can't find them online, come to us and we can point you to some. Um, these are great resources for connecting with families and, um, learning information and being able to help each other.

Um, I would on that note also say, be very careful to note that even though there's many similarities that we're all faced with, Um, every person is individual indifferent, so don't, you know, assume that someone who seems very similar to you, that you're gonna have the exact same outcome as that person. Um, but just take the information and learn from it and teach your medical professionals and talk to your medical professionals about what you're dealing with.

And then, as always, if you have any. Um, questions for us at the foundation, or you wanna reach out to us, feel free to do that. We're happy to help you.

‍Pooja: so being a rare disease, often when folks are diagnosed, first of all they've gone through multiple, potentially misdiagnoses, um, and then afterwards maybe. The doctor that they're getting their diagnosis from has never actually seen P before, or they're the only patient that they have had that has P.And so could you tell us a tiny bit about if there are any resources, um, folks can give to their doctors, um, in that kind of scenario? Um, or just any other advice for someone in that kind of situation.
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‍Kristin: Yeah, sure. So I hear all the time, even from my own physicians, what are you gonna teach me today? What, what do I need to know about PTEN?

Um, back to Giving Grace. Not every physician knows every aspect of PTEN because it is a rare s. Likely underdiagnosed, but rare disease. Um, so we have made a brochure, a leaflet that you can print out or you can send digitally to your provider, um, to help them with the care guidelines that they should be providing for you and your family.Kristin: Um, you can do that. We make ourselves available if a physician wants to reach out to us. I would also say if you have the opportunity to make it to one of the clinical centers of excellence, they are very good at doing initial visits, coming up with a care plan, and then sending you home with a care plan that you can share with your providers at home.

Kristin: Um, so don't get discouraged, but if you need help, most definitely reach out to us. And we'll provide you a link to the brochure from this podcast.

‍Pooja: You know, as I'm hearing you talk, these are just such amazing resources that you mentioned to fit together. Really just such amazing work.

‍Kristin: Got a long way to go, but we're, we're still treking along. Doing good

Pooja: Thank you so much Kristen, for taking the time to speak with us today, as well as just all the work that you've done for the PTEN community as really evidenced in this conversation. I think the number of resources that you're growing, , are really amazing. Um, so yeah, thank you so much.

‍Kristin: Thank you and thank you for, um, putting this series together. It's so important for our patient community. we love our patient community and one step at a time we're trucking forward. And again, I believe we will have treatments in my lifetime. So thank you so much. Thank you.