Pooja: Hello everyone. And welcome to another episode of let's talk about PTEN. I'm joined today by Lori Ortega. Lori is a teacher as well as an author of this really amazing blog beatingcowdens.com where she shares her experiences since her and her daughter were both diagnosed with P 10.

We talk about a really wide range of topics from her initial experience, being diagnosed, finding a good match when it comes to doctors. And just a lot of her experience, both going through P 10 herself as well as parenting with P 10. Thank you so much for joining us today and let's get into it.Lori, thank you so much for joining us today.

Um, and I guess getting started, let's dive right into it. Can you tell us a tiny bit about, you know, getting that initial diagnosis for you and your daughter? What was that experience like? And what had you kind of known about P10 up until then?

Lori: My husband and I have an only child.She is She's 20 now, but she was never very healthy. Um, so her childhood was bouncing around to a lot of doctors. She had, um, a bunch of surgeries, some vascular malformations. We had not been able to connect the dots until a very wonderful physical therapist who had worked with her a great deal nudged me to see a geneticist and in the fall of 2011, we met a Dr.Pappas at NYU and he spent about 45 minutes doing the most intense intake that I've ever had from a doctor. He really listened and watched and Checked a few things out on Megan and then looked at me and said, I know what she has mom, and I believe you have it too.

And he gave me the name and it was probably one of the only times in my life that I resisted the urge to run to a computer and hit Google because I was so terrified.It was like a deer in headlights. Um, he tested her that day and she came back, um, positive for a mutation on her P10 gene. And we had a crash course in learning everything right down.

I had never heard of it. I didn't know it existed. I had all thoughts, all sorts of thoughts in my head about what could possibly be causing all these little issues in my daughter.And this brought everything in all at one time, kind of to a crashing, crashing blow. They sent me for blood testing once hers was in, and it was in fact confirmed that I had passed that gene to her.

‍Pooja: , yeah, and I think it seems like you had PTEN essentially without knowing, and how did kind of receiving that diagnosis change how you were thinking of maybe symptoms that you were already experiencing?

‍Lori: simultaneously terrifying and freeing. Um, I had had a bunch of medical issues all through my own life, little things here and there, random growths, tumors, um, all things that had been manageable one at a time.But it always seemed weird to me that I was constantly at a doctor constantly addressing something. Um, so once that diagnosis was confirmed, it gave me a great deal of clarity. But once I really understood what it entailed in terms of the tumors and the cancer risks, there was a lot of battling back and forth between, um, terrified and then motivated to make sure that we both remained healthy or as healthy as we could.Yeah.

‍Pooja: And you talk, you know, about that. Impulse to kind of go and run and Google something. And it also seems like, like you mentioned, you had experience with this, you know, just up until then, before you received the diagnosis. What were the main ways that you went about starting to learn about this and really inform yourself?,

Lori: I dove in to as many published journal articles as I could. I mean, I find everything through a search engine, but I'm savvy enough to know that you need to read credible materials. And I would often open up two windows on my computer and literally search vocabulary words while I was trying to understand the scope of an article.I reached out back then. I don't even know if I had Facebook at the time. I can't even tell you exactly how I got connected to the first mom of a P10 patient. I think it might have been through a Yahoo message board. I mean, we're going back 11 years and slowly the community started to grow as awareness came up.But those initial, those initial couple of years were unsettling.

‍Pooja: Yeah. Um, and you know, you and your daughter being diagnosed at the same time. Um, what was that initial period like for you and what were maybe the things that you did kind of cope with that kind of Lori: experience? I don't even remember a lot of that year. She was diagnosed in September of 2011. She was in the third grade and she was eight. I was 38 at the time. And one of the first things that they screened for with the Children is thyroid cancer. So someone had Sent us to an endocrinologist and they were checking her thyroid and they found a bunch of nodules and we were going through biopsies with her and Simultaneously, I was trying to get myself set up with oncology programs because I was told that a lot of PTEN's primary cancer risks Peak right about the age I was, um, in your forties.So she was diagnosed.

We were running back and forth from a lot of thyroid, uh, biopsies and a few super traumatic events during that window. And I was scheduled for what was supposed to be a prophylactic bilateral mastectomy in March of 2012, that surgery. Went through March 5th and on pathology, they found that I actually had, I had undetected, um, breast cancer, very small found solved, but that set things rolling in motion even further because once I had officially, um, a cancer survivor diagnosis, then immediately I needed to check out everything else.

It got it. Yeah. Very organized very quickly. Um, everything there was less, uh, sending of PDFs and digital transmissions. So there are binders with lab work and testing and doctor's letters and. Running through insurance issues. We're fortunate enough to have two insurances. My husband and I are both, , insured, but navigating the insurance road, it took so much time and so much energy.Um, there were so many days that maintaining a full time job, keeping her in school, active in activities, maintaining my health, um, literally just getting from morning to night was all that I had in me. Those years are, um... Definitely some of the most trying. I always said that my husband, um, earned a medal while he was watching all of that go down.The three of us are very close and as hard as it was to be in the mix of it and be the one organizing it, I can only imagine what it was like for him at that time.

‍Pooja: Yeah. It sounds like, you know, like an incredibly overwhelming period. And then would you say that right now, is it more manageable mainly because you've learned to kind of, you know, organize or take preventative steps or what really might be the difference between that initial period versus now?

‍Lori: I think yes. I think once you have wrapped your head around something, you have two choices. You can either, um, you know, sit down and wallow in it and give up or you can figure out a path forward. And I think, you know, a decade or so into this. We have definitely figured out a path forward. It's easier to do what we need to do.Although, the gravity of what happens on a daily basis, um, sometimes blows people's minds if I just try to have a regular conversation with someone.

It is easier now to reach out to a community. There is, um, there are a lot of us that are engaged in online support groups so we can kind of, You know, there's those of us that have been diagnosed a long time and people with new diagnoses coming in and children.It is easier for us to support each other. The PTEN Foundation, um, you know, founded by Kristin Anthony, who was diagnosed about the same time that I was, has been a solid source of information and a good source of information. Soothing in a way to know that there's now a charitable organization that's internationally connected that is out there representing us.

So I think as rare as the disease is, it's a little bit less lonely than it was back then.

Pooja: Yeah, um, yeah, it's amazing. And I think the way that, you know, the P10 organization, all these kind of like rare disease. Foundations that really like come together in the last few years to provide community has been really amazing. Um, I have another question, which is maybe a tiny bit a different topic, but doctors come up quite often in your posts. And some of them have been really great and attentive and you really called out when physicians have gone above and beyond. And then some of them have been, you know, less attentive. Um, how do you know when you really found a great fit with the doctor?Um, and are there instances in which you've had to maybe educate a physician?

Lori: all the time. Um, we constantly need to educate them. And I think that the difference between the ones that we keep and the ones that we walk away from are the ones that are willing to listen. It's not often that we find a doctor who is deeply well versed in this disease.But living in New York City, we have a little bit better chance than some of the people that I know in in far more rural areas.

But the doctors that truly listen and understand are the ones that change everything. If I can give you an example, Megan is scheduled to go in for surgery next week. And the doctor that we are dealing with now, she had a surgery with him last May as well.She... Respect so much the fact that she is a full time college student that I am working full time that we are doing everything we can to live the most normal life that we possibly can and he makes every, um, every step necessary to meet with us virtually as often as possible to let us do testing closer to home so that we can have the ultimate surgeries and the procedures.From someone who we trust without having to say, drive from where I live on a ride that takes us two and a half hours each way where I would need to take a day off, I would need to bring her home from college.

I think that those doctors that are willing to see us as people, those are the ones that we keep because so much of this syndrome can be so overwhelming.that we might have 10 or 12 specialists. You can't live your life like that. You can't always be available at, you know, 11:30 on a Wednesday. You have to have a little bit of flexibility and it's not because you're being entitled. That's because you're trying to survive. So those doctors that listen and are willing to learn, those are the ones that we hang on to.

‍Pooja: Yeah, um, yeah, I think I really hear what you're saying, which is like acknowledging that you have all these other things that you're dealing with outside of what you're just seeing the physician for that day. And I guess I'm kind of in addition to that, when a physician is seeing maybe a patient with p10 for the first time.Are there any things that you wish they could do to be more helpful or more, I think, supportive.

‍Lori: I wish that some of them would check their ego at the door. Um, There is a tendency sometimes for doctors to feel threatened when patients are strong advocates for themselves, and it is frustrating.I think that from our perspective and from most of the PTEN patients that I deal with, we're not looking to go into a room and, you know, turn anybody on their ear. But. Because this is a rare syndrome, and it is directly affecting our lives, the majority of us are well versed in the most current research, likely more than the doctor that we're dealing with, and what we need those doctors to do is to listen to us, to ask questions, to accept that sometimes they don't know everything, to be willing to learn, and Zoom out, kind of see us as, as people rather than particular body parts to understand the toll that this takes, uh, physically, mentally, and emotionally, because it's a draining syndrome.

‍Pooja: Um, and then, so you've been writing about PTEN for over a decade now, and can you tell me a tiny bit about why you write and what kind of impact that that's had on maybe you or folks that have reached out?

‍Lori: It is, I write cause... This is going to sound strange, but I've lost my social connection on most levels because so much of the last ten years have been swallowed up by doctors and medical appointments and we sometimes giggle in here in a sick sense of humor that we have, that we keep time between surgeries and doctor's appointments.I think that writing things down, um, helps me say things that I don't always get the opportunity to say to other people.

And I also find that when I'm really struggling, and perhaps my attitude needs to be checked, and I need to dust myself off and do that moving forward, I had talked about, sometimes writing my thoughts out gives me a lot of clarity.I write from my own mental clarity.

Also write so that my daughter can see, um, the ways that I can spin things maybe 30 years in the future. Um, not, I am not perfect by any means, but I try to model for her that this is a manageable illness. It's a manageable syndrome and there are things that we can do.Um, to become successful and productive adults. And she's been amazing at following that. I know that she reads every word that I write. That's motivational as well. And I have had people from other countries reach out and send me messages and thank me for putting that story down. That is humbling to me because these are people that I'm never going to meet, but to know that, you know, maybe in a search engine somewhere when someone else was utterly and completely frantic, trying to figure out, they can see our story, um, that we are continuing to move forward and that this doesn't have to, it doesn't have to feel as suffocating as it feels in those diagnosis, those moments after diagnosis.

Pooja: Yeah, um, I thought like personally reading through your blog, what was so amazing was the length in which you've been writing. Um, I think, you know, in addition to each individual post, just the way that you can see, like, how you are framing, how you think about this across time, and like, maybe like shaping your opinions has been really amazing to kind of read through.Um, and I think especially maybe for someone who is just being diagnosed.

Lori: I appreciate that.

‍Pooja: Yeah, and I think that also kind of leads to my next question, which is, um, what is maybe your advice to someone who has just received a P10 diagnosis for either themselves or for their child?

‍Lori: Let yourself be sad.And overwhelmed for a little while. Um, too often we are pushed forward through grief that I think is natural. I think it is no matter what that diagnosis is, when you get one that you were not hoping to have, I think you're entitled to a little bit of time to be sad. And then once you have done that, make a plan, dust yourself off.

Then you do need to get on the computer and get yourself to reputable places, get yourself to the P10 Foundation, get yourself into some internet support groups, even if you're not a social media person.Find... Um, I would encourage you to join and find a group that kind of meets your needs, even if you don't talk much follow along and listen, because one of the things that keeps me going every day is knowing that I am not alone and some of the people that I have spoken to most through the years are literally a world away, um, that has been My saving grace through a lot of dark and stormy nights that I can reach out to these people andMaybe one of the benefits of us being all across the globe is that there's always somebody in a time zone when you need them.

So I would definitely say work through the process and don't allow yourself to stay stuck. There is light, there is a way forward. There is research that's happening all the time.This can be managed with screenings and interventions, and you can do it. You can do it and you're going to be amazing at it.

Pooja: Speaking of being amazing. One of the things that stood out to me from reading through your blog was that you speak about your daughter with so much pride. Um, you know, I read from that first post in 2012 all the way back when you were both initially diagnosed to now. And it's interesting how at every single stage, since then, you've almost had a different way or thing that you were just so proud of her for. Um, how she's handled or doing certain things. And it's just really beautiful to see the way that your writing has captured that.

‍Lori: She's been the reason that I keep going, because knowing that she's watching has been a giant motivator for me. Um, to let her see that it's all possible and it's all doable and she's out there pursuing her own career goals because she's going to make it happen.