Steve: Brian, you've had the genetic testing done, haven't you? I have. believe it was came out as a PMI or the... Or did you have it done at the Cleveland Clinic though for a clinical trial? That's who gave me my results. Okay. Like they called and they shared the results with me. I can't, I don't even remember. So we're going to go to somebody who does remember. I did the 2030 and me genetic testing and stuff. that part of the, that was part of the micro... the Parkinson's on H1. Welcome to the Secret Life of Parkinson's, a podcast created by people living with Parkinson's to help break the stigma of a disease no one likes to talk about. Now here are your hosts, Jessica Krauser and Brian Baker. So I'd like to introduce Taryn Rapp. Thank you so much for joining us today. as we know this, ⁓ you are the daughter of Jeff Smith, who is one of our loyal members at PD Next Steps. And you had the genetic test done through PPMI. I did. And we wanted to talk about what that journey looked like because it's an ongoing, like the PPMI study is ongoing and they need as many people with and without Parkinson's as possible, right? Correct. So yeah, so that's what we're going to talk about today. Yes. Yay. Yay. ⁓ look, your voice actually went up too. I know, I'm getting excited. So Taryn, tell us a little bit about like ⁓ your experience, like why you wanted to get this test. You can talk about your dad or the journey of Parkinson's with him, but what led you to get this done? Absolutely. So my dad was diagnosed almost eight years ago. And I think when something like this happens, it affects him directly, but it indirectly affects the whole family. And how I've always led my life, I think when you feel out of control, I try to figure out what I can control. So the first step when I heard about the Parkinson's Foundation, they do ⁓ free genetic testing. So my dad had that done. He did not have the genetic mutation for Parkinson's. ⁓ Then I was also exploring the Michael J. Fox Foundation and they have something called the PPMI study. It's the Parkinson's Progression Markers Initiative. And a lot of it, when I started off, you just set up an account and it takes a little bit of time in the beginning because they ask you all these questions. survey of questions. Yeah, that's what saying. health and your family history and... ⁓ Things like that. And then every quarter they send you an email and you spend like five minutes updating questions. And it's like, has anyone told you you're ⁓ have a softer voice? know, anyone told you your writing looks smaller? Kind of the basic symptoms of Parkinson's. ⁓ And they're doing that to collect data to see when Parkinson's starts, how it changes and then ultimately how to stop it. And through that, you know, one of the quarterly pop-ups on the email, said, I wanted to know if I could take a smell test that I guess diminished smell is a, can be a symptom of Parkinson's. Not everyone with diminished smell has Parkinson's, but it's something that goes along with it. So they mail a little packet and you take a little pencil and scratch and it's like a scratch and sniff. And it's harder than you think. Like I would do it and then I'd ask my husband, like, can you tell what this is? And he's like, I can't tell. And I don't think I have diminished smell. Like I've never noticed that. So when they called me and said, have diminished smell, and at that time they can't tell me where on the spectrum it is, just that diminished smell. And they asked if I wanted to participate in a screening study. I was like, absolutely. So what that entailed was it's called a lumbar puncture, which is basically a spinal tap. And so they flew me and one other person to Chicago. ⁓ They fly you in on one day because you have to do blood work, I guess, to make sure you have a clotting factor. I arrived at the appointment at Northwesterm. For about an hour, you meet with the neuro ⁓ movement disorder specialist. They ask you questions, quick blood draw, and then we were allowed to do what we wanted for the rest of the day. then the next morning at seven in the morning, I think it's a pain management clinic. go in and it's supposed to be really quick. was a slower, I guess my ⁓ fluid came out slower, but you literally sit on a hospital bed, you bend over, hold a pillow. and it felt like a little bee sting when they anesthetize you at first. And then ⁓ really no pain, you could feel pressure, maybe 15, 20 minutes. And then I had to go lay on my back for 20 minutes, then free the rest of the day to do what I wanted. Wow. And then from that- They set everything up? Everything. Show up at this place and then the research coordinator would meet me in the office. waiting room and take me. mean, it was very organized. That's good. Super easy. Highly recommend it. And then I waited about maybe four months, three months, and they called to tell me that I did not qualify for the study. So that was the screener. If I would have qualified for the study, I possibly, think they said the closest site would have been Cleveland Clinic. OK. And I don't know at that point, maybe every six months, every year I would have gone in and they would have tracked my my progress. ⁓ Because I didn't qualify then I waited for my results to upload into the PPMI account and it did come back that it was negative for the protein they're looking for. They're looking for an abnormal alpha-synuclein protein, which I guess, which is a biomarker for Parkinson's. So, I think what I've told is not everyone that has the abnormal alpha-synuclein has Parkinson's, but people that have already diagnosed with Parkinson's. 95 % have the abnormal. Interesting. So they're just trying to collect more research of what that looks like. ⁓ Did they give you any idea as to how many of these they've done? did they share any insights? They didn't. asked the researcher, said, how many do these do a day? And she said, well, think on average we have maybe, she said, 30 a week. But that also includes people that are coming in, not just for the initial screening. but people that are already in the study and they're doing like their six month followup. That's still pretty good though. I mean it, right? Like that this is happening. Sure. And they have sites all across the country, you know? So if you live on the West coast, you're not going to fly to Chicago. Right. They're going to find a closer site visit for you. How did you feel going into all of this? You know, I just feel that knowledge is power. So I would rather know. ⁓ For me personally, I would rather know so I could do everything possible ⁓ to be prepared as much as you could be, I guess, for it. ⁓ What was the waiting period like? It was okay. I I kept thinking about it, but I mean, I had to process. Well, if it comes back positive, what does that mean? Yeah. But I feel like I try to live my life, you know, my parents did a lot of traveling early on. So I feel like they have less regrets now, you know, like they didn't wait. a certain amount of time. I feel like that's how I'm trying to live. Don't put it off because you don't know what 10 years, whether it's Parkinson's or anything else. ⁓ Now, I know you have siblings and your dad has a lot of siblings. Did anybody else get tested or do they recommend like? I've asked my mom to be the one to disperse the information. Here's, we'll get something from Michael J. Fox about the smell test. Can you? put this on an email thread to send out to everyone. ⁓ Ideally, I would love it if everyone did. I mean, it's super easy. I think a lot of times we think about contributing monetarily, but there's also a way that's, without the participants, the money doesn't do anything. ⁓ So I've asked my kids, I don't know if they've done it, but my youngest is almost 18 and I'm pretty sure he'll do it, but. ⁓ You know, I've said like the best gift you can give for our family is to do this So I hope they will I know we I know that my mom shared it with all my dad my dad's the oldest of ten kids and shared it with all of his siblings that At least for the genetic component ⁓ How did Jeff feel about you going through it? Was he was he nervous or I don't think so. I know he was really relieved when the ⁓ Genetic testing came back from the Parkinson's. Yeah, because I think he feels like he could give it to us. Responsible. I mean, think every parent feels that way to a point. Yeah. Like guilt. Yeah, because when you had yours, did you tell Gabe? Yeah, well, he told me he didn't want to know. But I was like, just, told him when I came back as negative, I told him, I was like, came back as negative. But then you start to explain that doesn't mean you won't get it. It doesn't mean that exactly. Right. Because just because we don't carry the genetic marker, it's like it's they're discovering new markers all the time. So just like breast cancer, you hear like the BRCA gene, but there's still other genes that haven't been discovered or the fact, you know, the fact that the environmental aspect of it and how much of it is based on where you live or what your occupation is and all that stuff. So and I think it's human nature to go back like we've tried to like rack our brains, like how did my dad get it? You want to know. And he was ⁓ a baseball coach for I think 35 years and he worked for Columbus schools. They don't have the crews like Olen Tangi and Dublin that are doing it. And he would religiously go and put all the fertilizer down. ⁓ Who knows if that's it, but that's you know, in my mind, that's what I think could have, you you just don't know what's going to flip on that switch. ⁓ I've done the same thing because I've you know, you said a spreader for the fertilizer then I was like I'll just use my hand and without a glove. Yeah. Yeah. Well, I think sometimes we think you have to take a pill or you have to take ingest something orally to be exposed to it. But ⁓ how much you know, our largest organ is our skin and how much we absorb absorb. Yeah. So what is it, is there anything that you would tell somebody who's new to Parkinson's of like what the PPMI is or like you said, like just the participation in it and how to get involved? I think it's a great website. Like you can just Google Michael J. Fox Foundation and it pops up and it's super easy to look at, to find the information and it spells it out. Like, am I over 18? Have I been diagnosed with Parkinson's in seven years? Am I over 40? You know, so it guides you. how you can best participate. And just knowing that it doesn't cost anything, it costs your time. And it's so valuable to help this great foundation collect data that they can do. How long have you been doing it? I've been doing it, I wanna say at least two or three years. Wow. And they just- it's so easy. An email pops up and it takes about five minutes and you get really good at clicking pretty quickly, because they're all the same. And they ask about- ⁓ your sleep, they ask about what supplements you're on, which is interesting because they're asking like, do you take vitamin D? So it's making me think like, that what they're, are they starting to think there's a correlation with low vitamin D or I don't know. Has this, has this process and just understanding and education of everything made you change anything in your personal life? I wouldn't say the PPMI. would say learning what we have as a family being with PD next steps, like the exercise. So I kept thinking that if I am positive, how am I gonna respond? I'm gonna, I mean, I exercise anyway, but I probably would be a little bit. More diligent. More diligent. You know, I already am pretty careful about what I put in my body and what I'm exposed to. ⁓ So I really couldn't do much differently, but I think it would probably, in times of stress or when you get down, like prioritize, keep moving. ⁓ keep being active, keep doing the things you want to do now, because you don't know what's going to happen in the future. because it just makes you more aware of things. Yes, it does. Have you had any negative reactions to being involved in it? You know, with the lumbar puncture, which I think is probably what would freak people out. tell you, like, the worst case scenario, you can get a spinal headache, which I actually had a spinal headache when I had it. It's when they're puncturing your spine, the fluid can leak out a little bit and it can cause a horrible headache. And I had that when I was pregnant, when I had a spinal. ⁓ That's one of the risks. So when I went through it, I said, you know, I did have a spinal headache before. You're supposed to hydrate afterwards. And then I think being flat for 20 minutes is really important. But it's pretty rare. For me, it was worth doing it. ⁓ And it's not painful. It's scary. I think it's scary hearing about it, but it's not painful. I'm so glad you did it. I mean, seriously, thank you for doing it. I haven't. I think about clinical trials and different things. And I am part of PPMI. ⁓ But then sometimes that's. surveys would come along and then I would just like skip them. You get a whole bunch of emails. I just got to be so long, it's like of all people I should be doing this. So, but thank you for contributing. Oh, absolutely. It's nice to feel like I can do something. Yeah. Yeah. And if everyone does something, know, yeah. can make an impact. And I think, like you said, you know, it doesn't, it doesn't always have to be money that you're giving, but just giving your time and yourself. And as long as you're not I mean, everyone's going to be fearful, but just being aware of like, if you did find out it was positive, know, just having that type of mindset, I guess, too. But the percentage of people that have the genetic markers are so small, correct? it's like 10 to 15 percent. Is that high? I thought it was even less than that, but maybe I'm wrong. And what they're trying to do with this, think what the goal is right now, it's a lumbar puncture to capture that. that flu, that spinal fluid. But the idea is down the line with more research to have it be a blood test or a saliva swab. So then it's not as invasive. It doesn't cost as much. Yeah. This Parkinson's biomarker was just, I would say discovered through the PPMI in 2023. So it's still pretty new. Yeah. I remember, I think we were at the Michael J Fox. Um, what was it called? Um, team Fox, the one that I went to New York because we raised a bunch of money in the beginning. Um, and they, talked about it there. was like such, was like a big deal, big to do. And I know they were still talking about like, at some point we need this to be like tested in your blood. But it's nice that they're already now doing it. They're collecting it. Yeah. they're working on getting the data. So hopefully one day for, I mean, we always say a cure, but first they have to figure out how, like what's the starting point? What's that? Yeah. And one of the challenges of the continued face is that it's different for everybody. You know, so what It's like a flu vaccine is gonna solve it all. Like influenza B is going around, everybody gets the same. So, well, thank you so much for coming on. Thank you so much for all that you both do and the awareness you provide and support for everyone. Absolutely. Well, thank you very much. So in our last 30 seconds, I will leave you with this. As Taryn said, you don't always have to just give money as a part, as a way to donate or as a way to help people. with Parkinson's or in any other disease group, but you can give up your time and really contribute to something that is gonna hopefully help us in the long run because this is an ongoing study. So if you wanna check it out, it's at the Michael J. Fox Foundation and it's called PPMI. And you can sign up today and start to survey and see if you are a candidate for anything. So with that, we will see you next time.