Hello, and welcome to another episode of let's talk about PTEN. Today. we are lucky enough to be joined by not one, but two guests, Ashley and Keegan. We'll be talking about Keegan's initial diagnosis, learning as you're going and managing P 10 wellbeing in school. Thank you so much. And let's get into it.

‍Pooja: Thank you so much for joining us today um just to start off could you do a quick introduction

Ashley: hello. I am Ashley and I am the mother of Keegan. Hi, introduce

Keegan: my name's Keegan. How old are you? I'm 13.

Pooja: Yeah, great to have both of you on. Um, just to build a tiny bit of context for people listening in. Can you tell us about when you were first diagnosed with PTEN?

Ashley: And what your initial thoughts and emotions were during that time period, Keegan was diagnosed when he was seven and a half years old. Um, when he was first diagnosed, it was extremely overwhelming. Um, hindsight is always 2020, so when he was first diagnosed, there was so many. Instances in his life where I was like, shoot, he should have been diagnosed a long time ago, but, We just kinda kept falling under the radar.My suspicion is now as we fell under the radar, because he is not a s d, he is not on the autism spectrum, so he doesn't have that component of PTEN. But, um, when he was first diagnosed, the first order of business was a thyroid ultrasound and he had already had nodules at seven. And so of course being a mom and getting that, uh, diagnosis and knowing that he had nodules, worst case scenario, I was like, oh no, I should have been more proactive.Prior to that,

Pooja: Oh man. Yeah. Like, you know, it's one of those things where when you look back, right, it's kind of, hindsight, but maybe what were some of the symptoms that, you were picking up on during that initial time period?

Ashley: Sure. So when Keegan was born, uh, he was born two weeks early and he was nine pounds, one ounce at two weeks early with a 15 and a half inch head, which at that point, um, that should have. It's been a red flag, but no one said anything.And then as a newborn, you know, they have their wellness visits like every month. And by the time he was six months, um, not only was his head so big, but it had grown so much in such a short time that they suspected that he had hydrocephalus. So we went in and had a CAT scan and basically they just said, Nope, he has macrocephaly.He's just got a really large head. Uh, your husband has a large head. It looks like it's genetic. So we're just gonna chalk it up to that.

When he was about 19 months old, I was bathing him and he had like a large tumor on his right lower back, which um, was like a lipoma. So they went and did an ultrasound and we opted to have it removed because even though they suspected it was benign, it had started off like the size of like a dime, but it was like the size of a golf ball by the time he was 24 months. So I was afraid that if it continued to grow with him, that it was going, the scar would be much larger as he grew older. So when he had that removed the doc, the surgery ended up being like five hours and the doctor had told us that he'd never seen a tumor like that.And um, that's why the surgery took so long and that it would likely grow back, which it did. It didn't grow back. As large as it was when he had it removed. But we continue to follow up with dermatology for years. And again, at that point that doctor probably should have urged us to seek further treatment knowing that he never seen a tumor like that.

But I was young and naive and assumed he was a doctor, so his word is golden. Um, so we followed up with dermatology for several years and another lipoma grew. On his back in a different location. And, um, he also had cyclic v cyclic vomiting syndrome as a child. So the kid was puking all the time, which landed us with a gastroenterologist who, when he was seven, um, performed an upper endoscopy where they discovered a large polyp at the bottom of his esophagus, like top of his stomach.And it was about the size of like a peanut m and m. So he removed it. And he did tell us the follow up with dermatology, but I kind of was like, what does dermatology have to do with the polyp and the esophagus? And I kinda let it go. And then he started vomiting again about six months later. And that's when I went into the dermatologist and she had told me, do you remember when I mentioned, and at that time it was Ban Ann Riley Rub Syndrome, which is one of the terms underneath the.Umbrella term of a P 10 mutation. And I was like, I don't remember that. I do remember when he was about four between the lipomas and the macrocephaly that she did tell me if anyone in our family got, um, colon cancer at a young age that we needed to be concerned about ban and Riley Rubic Rubic syndrome.So had I left the office that day and Googled, I probably could have connected all the dots, but uh, it took another three years of. Random instances like that to come up with this diagnosis.

Pooja: Yeah. I really think that that long kind of timeline for diagnosis, is something that we unfortunately see really often with PTEN. And something I'm really hoping continues to decrease.. Um, I do want to kind of turn the question, to Keegan and maybe ask what was your first reaction? , , when you were initially diagnosed and maybe how, has that changed since then?

‍Keegan: I was kind of scared and nervous knowing, like I was gonna be permitted from doing most things that normal child can do.Um, and also I did learn like there's also different things would happen to me that really wouldn't happen to. Your friends? Yeah, like my friends and other kind of people.

Pooja: Is that something that you've mentioned to your friends at all? Or is that something that you discussed mainly like within your family?

‍Keegan/Ashley: Uh, sometimes I'll mention it, like if we're at like, um, a carnival and there's different kind of rides in there trying to get me to go with them, I, I sometimes have to tell 'em I can't go cause of like what I'm diagnosed with and. Just what I'm permitted from. Keegan also has a Kiara malformation that, um, Seems to be kind of prevalent in the P 10 community.I feel like a lot of people do have Chiari malformations as well, and that is what prohibits him from going on rollercoasters. Got it. It's close enough. It's piggyback off of P 10.


Pooja: Keegan, you mentioned that there are certain things that you know, you aren't able to do because of your diagnosis.Um, what are maybe things that you've found that you really enjoy, that you still feel able to do?

Keegan: Uh oh, , I have a new passion of acting cause there's not much that's gonna hurt me. It's just something I can enjoy and do and have fun with my friends with.

Pooja: That's very cool.Yeah. Is that like through a club or something like that or through school?

Keegan: Uh, it's both through school and a dance studio. I'm trying to work my way up to Broadway, but I don't know how long that's gonna take.

Pooja: Oh, that's so exciting. , yeah, very cool. Another question that i have is you know still being in school have there been any ways that you've been able to get support from the school in terms of accommodations or anything else that you were able to request,

Ashley: Keegan has a 5 0 4 plan.Um, he does have a D h D as well. Um, you can literally hold Keegan's hand, watch him do his homework, watch him put it into his backpack, and it will not make it to the teacher by the time he gets to school. So he's, and sometimes my handwriting gets rejected by some teachers. He's too sloppy. Get that outta here.Yeah, he does have a 5 0 4 plan. He gets to, he gets extra testing time. Um, he gets to take tests. In a separate room, uh, to limit distractions. Um, because of all of his doctor's appointments and stuff, he has a lot of absences. So we have that entered into his 5 0 4 plan. So I don't have the truancy offers officers coming after me.Um, he gets special. We live too close to the school, uh, for bus services. So they do provide bus for him.

Pooja: I do have another question for Keegan, which is, let's say you were to meet someone else around your age. Who's just been diagnosed with P 10. Um what kind of advice would youhave for them

‍Keegan: Uh, I would tell 'em, I would, it would be kind of rough at first knowing like what's coming ahead, but after a while you will get used to it and it's just gonna be okay.

Ashley: And then I guess Ashley, I have a question, which is, um, earlier I heard you saying that, you know, you were like young and naive, but I think the truth is that like any parent is kind of like thrown into this like new kind of world, right?

Keegan: It's not like, you know, something that most people about, it's just thrown at you near, um, pretty much expected to know what's going on like right away.

Pooja: Mm-hmm. Yeah. And I guess, I guess my question was like, how did you go about like doing research? Cause it seems like there was a lot of like, I guess pressure to learn very quickly.Yes. So, um, when we left the dermatologist, she literally handed me a paragraph of what Benny and Riley Rubic, Clovis Syndrome was. And then we didn't see a geneticist for another two months and they handed me like a sheet of paper and I was so overwhelmed. Um, they, you know, they told us we needed to have a thyroid ultrasound at the same time.Um, Because like he was vomiting, again, we had to have the M R I and that's, we were also thrown into the diagnosis of the ke malformation.

So I was kind of juggling both of those. And a lot of the symptoms were the same for both, so I didn't know where to attribute them. But yes, we, at the time, um, we did not have a support system at all.Like it was about 18 months of, I had gone on Facebook and I found a group. Because at that time we had the, the diagnosis of Fannie and Riley Wlo syndrome. I didn't know that that was under the umbrella term of P 10. Mm-hmm. And there was a group, and I believe it had like 260 people in it, in the entire world.So it just, it was a very small community. It was hard to understand what we are going through. Just trying to navigate it in general. Um, somebody had posted in there about the P 10 Foundation. Uh, like I said, he was diagnosed in September of 2017 and the, by April of 2019, um, we had gone to that first symposium and it was just such a breath of fresh air knowing that there was other people out there like him.Um, and, and it just has grown from there.

We have gotten so much information. Doctors, um, what kind of care we should be receiving. Um, now, like just knowing when to cut, when not to cut, when to be nervous, when, I mean each patient is completely different, but it's still nice to have that community and know that there's other people that are experiencing what we're experiencing.

Pooja: Yeah, the P 10 foundation just does some really incredible work. I do have a question, which is, you mentioned initially some of the doctors that you had seen. , had never, had a patient with P. 10 before. , since then, how has that maybe changed? What is your medical team look like? Um, and you know, are you working with specialists or, have those initial doctors educated themselves? , as they're kind of supporting you at this process.

Ashley: So we live, um, in the south suburbs of Chicago. So we live in a heavily populated area. Um, our hospital, we go to L'S here, and it is one of the top pediatric hospitals in the US and we still, um, they still are kind of naive on P 10, they. Do the best that they can to educate themselves, but I have to give them a lot of information.Um, fortunately we have been able to go to the Cleveland Clinic and they are able to share, they share a database so they have all their information and they touch base with our team at the Cleveland Clinic as well. And we also have been very, very fortunate that our pediatrician, uh, when Keegan was first diagnosed, he actually remembered having a patient that was diagnosed like.10, 10 or 15 years ago that he had diagnosed and he put us in touch with him. So he is very active and interested in Keegan's care and he helps us follow up with all of our specialists as well.

Pooja: One question that I do want to bring up, because I know it's something that's on the mind of a lot of folks with younger children. Who are growing up with P 10. And, you know, maybe it's a little early, cause I know that Keegan still has time, but have you started all to think about, you know, transitioning some of the medical management or care, um, so that he's able to cover some of those things as he grows up.

Ashley: So that's actually one of my biggest fears as a mother is he's 13 already and I know once he's 18, he's gonna be in charge of his own medical management. But I don't think that that's ever, I think he's going to need my assistance in making sure that he stays on top of his care.For the rest of his life until he maybe gets a wife that will help him because I don't think if I, in Illinois, um, unfortunately, like when he turned 12, he had to sign over his medical rights to me or else he was in charge of them himself. And I can't see him ever making his own appointments or making sure that he is.I mean, I guess we have five more years, EU before as an adult, but as of right now, I can't see that happening. But how do you feel about that? Do you think that you'll continue to make sure that you get your proper care?

Keegan/Ashley: Yeah, I'll try. I'll try my best to when you're in California, trying to be on Broadway or New York On Broadway.I was thinking Florida. Oh, California's pretty dry. As someone who's lived in California. I agree. It can be pretty dry.

Pooja: Um, but I do have another question, which is, you know, growing up. being a teen is such a difficult process. in itself. and, you know, P 10 can definitely add to that. I'm wondering, you know, if you ever have anxiety about your diagnosis or anything that's going on, um, are you someone who likes to reach out to other folks when you're like, you know, talking through these things, you tend to like, keep those things to yourself. Um, how do you really like, you know, manage some of the anxieties that come up with things like this?

‍Keegan: Uh, sometimes I'll either go to my mom or dad or I'll just wait it out for a little bit.Mm-hmm. Cause sometimes I'll just forget right away and then, and then I'll feel better. Uhhuh. ,

Ashley: we've been pretty fortunate that Keegan's not, um, a very anxious kid. He, I mean, he gets anxious about some things, but I don't think that he gets anxious about P 10. Mm-hmm. We've been lucky at this stage in his life anyways.And actually I'm wondering, if you maybe have any advice for parents who are in a similar situation, you know, um, maybe as to what to expect, or just advice has to, how to go through some of the, big aspects of this, in terms of medical management, or even just like personally.

Ashley: So yes, my biggest advice is definitely um, I know like sometimes it can be so overwhelming and it seems like when it rains, it pours sometimes in a P 10 diagnosis cuz things just compile. But there is always light at the end of the tunnel. And as overwhelming as it is, I feel very fortunate that we have this diagnosis.So we're a little bit ahead of the surprises, so like, I know. More than likely that Keegan is going to have cancer or several different types of cancers in his lifetime. But I feel fortunate that he is diagnosed and that we will hopefully always be one stop ahead of the game. And when, when, and if he does get diagnosed, well, it'll be in early stages.

Um, I also. Feel fortunate having this diagnosis, kind of knowing what we're dealing with. I know there's so many, um, that don't even get diagnosed in until adulthood. And then, like I said, hindsight is 2020. You look back and you're able to connect all the dots. So I'm glad that we're connecting our dots at an early stage. Yeah, I really agree with what you said about, you know, having the diagnosis, and then, being able to do certain forms of preventative care, because you have that, available. I mean, you know, just like being able to catch things early on. is so important. Um, and, that's why I think, you know, I just really hope that folks in the medical community continue to learn more about P. 10.

‍Keegan/Ashley: Thank you so much for having us. We feel so blessed to be a part of this community and to share story and to spread awareness about Pten. Cause I feel it's very important to help others. You got anything to add? Uh, thank you for inviting us out to this end. Um, I feel the same way.

Pooja: Yeah, of course. , it was so great speaking with both of you and I really look forward to seeing you on Broadway or maybe a movie. in the future.

‍Keegan/Ashley: Yeah. Thank you. Thank so much.