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Two Disabled Dudes
61 minutes | 7 days ago
146 – DD pt4: Why Sean Baumstark Is Banned From Clinical Trials
As a clinical coordinator at Children’s Hospital of Philadelphia (CHOP), Jen Farmer gained years of experience designing and operating clinical trials. Now as the CEO at the Friedreich’s Ataxia Research Alliance (FARA) she uses that experience to design effective trials for the Friedreich’s ataxia (FA) community – and she nicely puts Sean in his place when she states “the rules are there for your safety”. Jen shares the principles that guide clinical trials and a few tips for those who choose to participate. FARA – curefa.org
43 minutes | 14 days ago
145 – DD pt 3: Pre-clinical & Tacos
The pre-clinical stage of drug development is largely about safety – answering the question ‘will a drug be well tolerated in people?’ However, Kristina Bowyer of Ionis Pharmaceuticals helps us understand that the patient voice should be integrated into every stage of the process, including pre-clinical. Plus, Sean loses his focus. Enjoy! Ionis Pharmaceuticals: https://www.ionispharma.com/
54 minutes | 21 days ago
144 – DD pt2: Do Good…with John Crowley
Part 2 of our Drug Development Series introduces John Crowley, the CEO of Amicus Therapeutics. He is also a funny and compassionate rare disease Dad. Join us as we learn life lessons and how to start a company – and Sean learns that a million is quite large. Amicus Therapeutics: https://www.amicusrx.com/ Extraordinary Measures (John’s story), starring Brendan Fraser and Harrison Ford: https://g.co/kgs/u7uFgw
49 minutes | a month ago
143 – DD pt1: Half a BILLION Dollars!?
This is the LAUNCH of the Two Disabled Dudes Drug Development Series. We have 5 experts lined up to field our questions about the process and how we as patients can insert our influence. This episode is an overview of the Drug Development Process which helps us understand how to avoid spending half a billion dollars on a dead end. Barbara Tate is the Chief Scientific Officer for the Friedreich’s Ataxia Research Alliance (FARA). She has an impressive resume and a great sense of humor. She went from academic science, to big pharma, to venture capital, to nonprofit, and now she graciously shares her knowledge and wisdom with us. Our next episode features John Crowley who is played by Brendan Fraser in the movie Extraordinary Measures.
30 minutes | a month ago
142 – A Dedicated Advocate in India
How do we build an effective Global Rare Disease community? It all starts with sharing stories and ideas. Join the dudes as they hear Manish Gore’s story about Alport Syndrome, and discuss the differences between the US and India and the Rare Disease World. Manish’s Resources: Manish’s Blog, Doting Beans: www.hope4kidneys.info Organization for Rare Diseases India: www.ordindia.in Mental Health, Zifcare, India: www.zifcare.com Alport Syndrome Foundation of USA: www.alportsyndrome.org Kidney Research UK: www.kidneyresearchuk.org
37 minutes | a month ago
141 – Rude or Cooperative?
A few weeks ago, Sean read an engaging article from the Huffington Post called How to Know if You’re an Interrupter or a ‘Cooperative Overlapper’. The discussion of this article lead to an exploration of issues on the endless video conference calls that have become a big part of our lives lately. Kyle still thinks ‘Cooperative Overlapper’ is just a made up term to make Sean feel better but you be the judge.
38 minutes | 2 months ago
140 – A Sister’s Perspective on Bullying
We sent Shelley a 2DD 2021 Desk calendar. She sent back pictures of her brother, Jeff. That sparked a heartfelt conversation about her family and some of the experiences in her life with her brother. Join us as Shelley shares her experiences – you may end up with a few nuggets that make you a better person. Shelley Bowen is Director, Family Services and Advocacy at the Barth Syndrome Foundation: https://barthsyndrome.org
35 minutes | 2 months ago
139 – Where The Hell Are The Instructions?
Sometimes we wish there was an instruction manual for life’s transitions. How do we decide when it’s time to make a transition to a walker or wheelchair, power chair, hand controls – and how does ego play into the situation?…Listen as the dudes discuss and search for answers.
29 minutes | 2 months ago
138 – We Only Have One Life to Live
“There is real power in not caring what others think.” Ben’s Friends is an online social network for people with rare diseases. Ben Munoz started it after suffering an AVM in 2006 and undergoing multiple brain surgeries. During his recovery he was feeling alone and scared so he reached out to others to form Ben’s Friends. Ben joins the dudes to impart his knowledge and wisdom from his years of leading Ben’s Friends and the company he created. Ben’s Friends: https://www.bensfriends.org/ Episode 69 of Once Upon a Gene: https://effieparks.com/podcast/episode-069-bens-friends
41 minutes | 2 months ago
137 – Rare Disease Day Special with Dr. Al Freedman
To honor Rare Disease Day, we invited our friend Dr. Al Freedman back on to talk about how people living with Rare Disease (like Kyle and Sean) can remain proud even if they are not proud of everything about themselves. Dr. Al says a big part of it is gratitude and focusing on your strengths. Listen to hear all the details including the strengths of his son Jack who has been living with SMA for 25 years. Learn about Rare Disease Day: rarediseaseday.org Reach out to Dr. Al at: freedmancounseling.com Listen to Dr. Al’s first interview at: 128 – Mental Health and Rare Disease
28 minutes | 3 months ago
136 – When It Hits The Fan – Part 1
What you we do when things do not go as planned. Your life feels like it’s falling apart, and you need to rebuild part if not all of your vision for your future. The dudes have a few thoughts on how to proceed based on the rebuilding they’ve had to do in their lives.
22 minutes | 3 months ago
136 – When It Hits The Fan – Part 2
What you we do when things do not go as planned. Your life feels like it’s falling apart, and you need to rebuild part if not all of your vision for your future. The dudes have a few thoughts on how to proceed based on the rebuilding they’ve had to do in their lives. **This is a 2 part episode so if you haven’t listened to part 1, check it out.**
37 minutes | 3 months ago
135 – Goals Don’t Accomplish Themselves
In the last couple episodes we talked about the importance of forming a vision for your future. This time we take it a step further with a few thoughts on how to put that vision into action.
36 minutes | 3 months ago
134 – Our Wants vs. Our Don’t Wants
Last week we talked about the importance of creating a vision of what we want so we can work each day toward that goal. An important piece of forming that vision is thinking about the things we don’t want to avoid the ruts that are going to keep us from our goals. Enjoy the conversation and don’t forget to subscribe.
40 minutes | 3 months ago
133 – Season 5 Premiere – What do You Want out of Life?
Where do you want to live? How much money do you want to make? How big is your house gonna be? Car? Job? It’s important to dream about these things but none of it is going to happen on accident. In this episode Sean and Kyle talk about what they want out of life and the importance of taking steps today toward those things. They also introduce a new segment: Top 5. This show is possible with your support. If you enjoy listening to Sean and Kyle please consider making a DONATION. 2021 is upon us and it’s time to plan ahead. Get inspiration for your year with our 2021 calendar available in the 2DD store: https://twodisableddudes.com/product/2dd-calendar-2021/
52 minutes | 4 months ago
132 – 2DD Forum with the XLH Network
Meaningful conversations with friends are what we love – and that’s what we thoroughly enjoyed about our 2DD Virtual Forum with the XHL Network. Listen to our 4 panelists for perspectives on living with XLH that relate to any walk of life. If your organization is planning to engage your community in 2021 either live or virtually, the 2DD Forum may be a good fit. Check out an overview at twodisableddudes.com/forum and reach out to us at firstname.lastname@example.org to discuss. Talk to you soon! If you’d like to read a transcript of this episode, click here: Read Full Transcript Sean: Welcome to the Two Disabled Dudes podcast. Kyle: We believe life is about how we react. Sean: XLH is a rare disease that Kyle and I didn't know much about until we were invited to be a part of XLH week in October 2020. It was a week of programming for the XLH community, full of education and fellowship. We thoroughly enjoyed learning from this panel of incredible patients, advocates, parents, and new friends. Enjoy the discussion. Sean: We are excited to be a part of the XLH Week and we're honored to be a part of the conversation today. Over the years, Kyle and I have experienced the power of support and connection through events, just like this one; in-person, virtual, getting coffee with one or two people, whatever it may be, where we have the opportunity to discuss our challenges, celebrate our wins, however big or small they may be. And, of course, collectively explore the ways in which we can move forward in life. Sean: We're honored to dialogue with a group of amazing individuals today, closely connected with the XLH community. We'll take a moment to allow each of them to introduce themselves. I'm going to head down here, bottom screen. JoBeth, would you mind stepping up? JoBeth: Hey, everybody. I'm JoBeth Sousa. I live in Lewisville, North Carolina. I have two children. I have an 18 year old son, who attends Wake Forest, and he does not have XLH. I do have a 13 year old daughter who was a spontaneous case. We diagnosed her when she was approximately 18 months old. JoBeth: I am here on the panel today as a caregiver. I also am a member of the Board of Directors for XLH, as well. Kara Beth was slow to walk, which is how we diagnosed her. She was in-toeing and dragging her left leg whenever she was learning how to walk. JoBeth: I had gone with another family on a trip to the beach, and they had a son that was about the same age as Kara Beth. We were just comparing, developmentally, the children and how different their son was compared to Kara Beth. He was toddling everywhere and KB was not. JoBeth: We talked to that family and they suggested that we just take her, pay our co-pay, and go see a specialist, and see if we could figure out what was going on. Fortunately, we actually saw an orthopedic doctor, and he did a simple blood test and identified that her phosphorous level was too low. He was the one who was able to diagnose her and tell us about her disease. JoBeth: When I left the office, I started spending some time researching on the internet and I found the XLH Network, which is how I got to the network. Kyle: And, JoBeth, we are going to talk about this in a little bit, but just so everybody knows, your wonderful daughter is an amazing soccer player, despite XLH. I love that so much. JoBeth: Yes. Actually, I am not in North Carolina today. I'm in Virginia, at a soccer tournament. Kyle: Nice. JoBeth: Her team has won two games already today, which means we get to play for the championship tomorrow. Good times. Kyle: Love it. Sean: There was a part of me that thought, "Man, her room looks like a hotel. It's so neat, and pristine, and everything is perfect with just the style." JoBeth: [crosstalk 00:04:34] Yes, I had maid service. Yeah, I had maid service about six minutes ago, so it looks very nice. Looks much better than it did about an hour ago. Kyle: Yeah. No, everybody, Sean lives in a hotel, too. All right. [inaudible 00:04:52] Sean: Jason, let's move on to you, my friend. Can you tell us a little bit about you and your connection? Jason: Yes. My name's Jason Grant. I'm 37 years old. I live in Columbia, Missouri. I was the first person in our family diagnosed as a spontaneous case when I was 18 years old. I'm finding that's later than when most people are diagnosed. It wasn't for lack of effort. I was in and out of orthopedic doctors' offices, and wore Forrest Gump braces for maybe four years or something, probably from the ages of two to six, and remember learning to my ride my bike on those, and in those, on top of various other things with my bones, and feeling pain is some of the very first memories I have. Jason: From the very beginning, as soon as I had teeth, I started to have a lot of dental problems. I would say, that was probably the one that really stood out to me, that I knew none of my other friends had. I hadn't been diagnosed, I just assumed everybody else hurt, as well. Jason: Anyway, jump forward, when I turned 18, it was obvious I needed a little bit of help or I wasn't going to be able to work. That was when, really, we found an orthopedic surgeon who looked at some X-rays and found out ... Said they don't look right, you aren't shaped right, and that's how I got diagnosed. Jason: After that, we'll move on and say I also have a daughter who did inherit XLH from me, and she's had a much different path than I did because she's been able to receive some treatment and been on Crysvita, and that's really nice to be able to look forward to the future. Jason: Besides my daughter and I that have XLH, I'm married, and then I also have a 15 year old son. All of us really like living mid Missouri and enjoy spending time outside riding bikes, maybe going on hikes, or doing a little bit of kayaking whenever we get a chance to. Jason: That's a little bit of a rundown on us. I think that's all I got. Sean: Jason, toward the end, you said your wife, your two children, you love living in central Missouri. If there was ever a stronger lie to ever come out of somebody's mouth, I feel like that would be it. Jason: No, there are worse lies. It would be, I love living in middle Iowa. Sean: I feel like I should clarify. Not to pick on Missouri, but I did spend four years of college in Springfield, Missouri and I'm happy to be back on the coast. Jason: Well, that's where I spent my first 33 years, and I'm happy to not be there. Sean: Fair. Fair. Rachel, thanks for joining us. Would you mind sharing a little bit about yourself? Rachel: Sure. I'm Rachel Jones. I live in Colorado Springs, Colorado, with my family; my husband and my two kids. I have a son, who is nine, and a daughter, who is seven. I was a former teacher and administrator. I also volunteered as a board member with XLH Network, and most recently was the Executive Director before returning to the education field as a textbook editor. Rachel: My mom was the first in our family to be diagnosed with XLH. She was a spontaneous case, and she passed it to me and my brother. I also have three nieces who have XLH, and then both of my kids have been diagnosed with XLH. Rachel: When I was growing up, little was known about XLH, and honestly, because I had never met anyone outside of my family, I just assumed that it was something that only affected our family and that we were the only ones in the world that had XLH. Rachel: Not wanting to be defined by XLH, I really pretended for most of my life that I did not have a rare condition. I focused on things that I enjoyed doing. I especially focused on doing well in school, because that was something that I could control. It was something that was not impacted by XLH. Rachel: That's how I lived most of my life, even into my young adult years, just pretending not to have XLH and believing that it was something that only affected my family and I, until I eventually found the XLH Network. That's when I first met people outside of my family who actually have XLH. Kyle: Thank you. Susan, we'd love to hear from you. Susan: I'm Susan Faitos. I'm the current Executive Director of the XLH Network. I was ... I live in California. I was diagnosed at 18 months old. I was a spontaneous case; nobody in my family has it. My story is very similar to Jason's and Rachel's, in that most of my life, growing up, after the initial diagnosis, initial treatments, I did pretty much ignore it as much as I could. Susan: That came to a halt when I had a surgery, and this was before they had even the K-Phos or the [inaudible 00:10:11] trial treatments. I had my tibial osteotomies, and when I came back six weeks later, my bones hadn't healed at all from the surgery. This was 40 or 50 years ago, so it was a lot of time ... Different than Rachel and Jason's stories. Susan: What was supposed to be a six week healing period turned into about an eight month healing period. That was when we really started learning more a little bit about what XLH was, and how this was going to affect the rest of my life, but then again, forgetting about it and pretending I didn't have it seemed to work real well. Susan: I did that as much as I could, up until about my 40s, or so. I found the XLH Network online, I think as soon as I got the internet. That was one of the first things I Googled, was Vitamin D resistant rickets. We didn't have Google then, but anyway. Susan: I found this network and it had all these people that were talking about XLH. My experience then was that I had spent so much time in denial and avoiding my illness, that it was exciting and terrifying to see all these people talking about their symptoms and what had happened for them. Susan: I, for the next 10 years or so, bounced back and forth. I would hop on the network web page whenever I needed an answer or had a question, but I would bounce right back off again, close my account even, and ... I'm not doing this. Susan: Finally, when they had an XLH Day very close to me, I decided, well, I really have no excuse. It's literally in my backyard here. I went to the XLH Day and ... Many of you have heard me tell this story already, but I was so nervous, I drove around the block five times before I went in. Susan: From there, I met my very first person who had XLH, and started volunteering after that day, became a member of the Board of Directors, and now I'm here today, doing this with all of you. It's been a really exciting path, especially after I found the network. Sean: Thank you for sharing, Susan. I'm thankful that you didn't drive around the block more than five times, that you finally got out of your car and started to connect with others. Sean: You know, in fact, I think we'll start there with the first question. This will go to both Susan and Rachel. You both shared a little bit about ... Rachel, you talked about you were the only one, it only affected you in your family. Susan, went on for years and years, probably with the same mindset, thinking, "I'm the only one." Sean: Rachel, would you mind talking about that tipping point where you decided to either use Google, or whatever it took, to connect with others? What was the tipping point and why did you venture out beyond your own family? Rachel: It happened when I became a parent and we received a diagnosis that my son was ... That he was positive for XLH. He was a little over a year and I was pregnant with my daughter, and knew that was possible that she had it. Rachel: Something just clicked in me. Those of you who are parents can probably understand just that, "Oh my, I can't pretend I don't have this anymore. I have to find answers." Rachel: I did everything I could. I looked online. It took me a while, because I hadn't heard of it being called XLH before. I knew it as Vitamin D resistant rickets, and I wasn't finding much, but I kept looking. That's when I found XLH Network, and found that they were having a meeting two weeks from the point that I had found that. Rachel: I quickly booked tickets without thinking about it, for my husband and I to attend. I remember, I told myself, "I'm going there to find information for my children. I'm not there because I need information." Rachel: That's part of my stubbornness. I didn't feel like I really ... I don't really need this, I don't need to connect with other people, but I do need information so I can give the best medical care for ... So I could advocate for the best medical care for my children. Rachel: I even remember just a similar story with Susan's. I walked in and they had medical students that were volunteering. Without even asking me why I was there, they said, "Oh, you're meeting is down the hall," and I remember being very offended. Like, "You could at least ask why I'm here. Maybe I was here to tour the medical school." Rachel: When I walked in and I met people who had XLH for the first time outside my family, they're very friendly, but I was still stubborn and they asked me ... They didn't ask me if I had XLH, they just asked me when I was diagnosed. Obviously, if you have XLH, it's pretty easy to spot someone else with XLH. Rachel: I was still in denial, still pretending I am not here for me. I don't need to talk about me, I'm here for my kids. Over the course of that weekend, and meeting other people, and just hearing doctors share information, I was just blown away, and honestly relieved, as a parent, to know that I didn't have to search so hard. There was information right here in front of me, and there are people who completely understood what I was going through, as well as what my children would experience. Rachel: It was definitely a change, and I went from not wanting to be there, to going home and quickly applying for the board. Which, they were very nice, and denied me, because they said, "We don't even know who you are." Rachel: Thank you for being so excited to volunteer. They said, "How about you volunteer first, and then we'll consider you for the board later?" Rachel: That's what I did and that's what led me to finding answers. Sean: Well, Rachel, whatever put you in that room, whether it was for you or your kids, it doesn't matter. Right? You're here now, you got in the room, and you got involved, and that's what is important. I think no matter what it is that gets us in those situations, it's important to connect with other people. Sean: Susan, I want to ask a very similar question to you. You've talked about being very apprehensive and freaked out. I want you to maybe go a little deeper into that very moment when you realized that it was valuable to connect with other people. Susan: Honestly, when I drove down to my first XLH Day, I had the same attitude as Rachel. It was like, I was going to go and see what this is all about, I don't really need these people. Once I got through my terror, actually walking in the door, and following the signs that said, "Here's where the XLH group was meeting," I remember really clearly just standing outside the door and not wanting to go in, and just being terrified. Of what, I really don't know. Susan: Walking in, and seeing all these ... Seeing all these people that looked like me. I was 55 years old at the time, and I'd gone through my entire 55 years never meeting anybody that had XLH or seen anybody that looked like me. I remember seeing Rachel sitting down, and I thought, "Oh my gosh, her legs don't touch the floor either when she sits in a chair." Susan: It was just like, this is so cool. It was obviously a very emotional moment, kind of a game changer in my life. I had recently retired and I really wasn't sure what I was going to do with my retirement. Apparently, I found a home for those years. Susan: It was emotional, and it was validating, but it was also really scary. I just want to talk about that part for people that might be new to the community because it is a little bit scary. Especially for the younger people now, that I think see some of us older folks that didn't have the benefit of Crysvita when they were younger, I think that can be a scary experience. I just really want to encourage everybody it's just never too late to find your community. You know? It took me 55 years, but here we are. Kyle: There you go. I love that. I think that experience spans all rare disease. Maybe even more common disease too, but certainly Sean and I have both had a very similar experience when we were first diagnosed and when we discovered the power of overcoming that fear and connecting with others. Thank you so much for sharing that. Kyle: Jason, I want to move on to you. Sean and I are becoming more and more familiar with XLH as we have discussions with all of you, and it's very apparent that pain is a part of the experience. One of the things that we were blown away by when we talked to you was that you said there was a part of you that's grateful for the pain. I'm like, "What the heck? That's kind of crazy." Kyle: Maybe if you could talk about that a little bit, because perhaps some other people in the XLH community can relate with that. Jason: That's a great line. I'm glad you brought it back up, because to hear somebody else say it makes it sound crazy. However, because pain, or the earliest memories that I've ever had, and they've persistent my whole life, I spent a lot of time thinking about it and how it related to myself, and to other people. Jason: As I've grown older, my wife says I have a huge capacity for empathy. I think that probably came from thinking about the pain that I had and being something I didn't know how to describe, or to talk about because it was part of me, I assumed that most other people felt the same stuff. Jason: And so, I never knew how somebody could be so strong as to play sports for an hour, whatever we might do, and then keep going after that. For me, it was a big task, including not just after sports, but getting out of bed in the morning. I just figured I couldn't be that ... I just wasn't tough enough, maybe. Jason: That made me realize that everybody has something they're dealing with that they don't know how to describe or to tell somebody about. I think that's primarily why I'm thankful for it. With that being said, I would prefer to not have had it. Kyle: Right. Jason: That's good [crosstalk 00:22:04] I see. Sean: Thank you. Jason and JoBeth, I want to go to both of you again with the question. In fact, even Rachel can speak to this, if she likes. You both talk about being parents. Or, actually, all three of you have. Sean: Jason, of course, you knew about it before you started having kids. JoBeth, it was new to you. JoBeth, let's start with you. What I'm curious about is, especially given the spontaneous, brand-new diagnosis of XLH with your daughter, KB, what are something parenting an XLH-er has taught you about life? Or just parenting, in general? Sean: Like Kyle said, she's a fierce soccer player. Talk to us a little bit about maybe what your daughter has taught you about life. JoBeth: Yeah, great question. This is something that I saw as a trait, specifically in Kara Beth, and it made me curious to know whether all XLH-ers had this personality trait in common. Kara Beth's very determined and fiercely competitive. She's the child who, if she's trying to make 10 baskets in a row, she's going to stay out there until after dark until it's done. Right? JoBeth: I just was really curious about that. As I started meeting more XLH patients and people in the community, that was a question that was ... I would take them to the side and be like, "Okay, tell me, are you really determined?" JoBeth: Some people would be like, "No, I'm just stubborn," or ... There was some commonality that XLH-ers are just ... They're up against so much, physically, that they just persist in accomplishing whatever seems to be set out in front of them. JoBeth: I think that was a huge eye-opener for me. She stands four feet, nine inches, and a quarter. Don't forget the quarter. For her, watching all of her middle school friends growing up around her and getting taller, she does try and make up in personality and in spirit what she lacks in height. Right? JoBeth: When we see her on the soccer field and we're watching her, she just is fierce. Nothing seems to throw her for a loop and she just keeps after it. That's been ... To see the world through her eyes has been a really interesting process for me to go through, as a parent. Certainly if I could change it for her, I would. I would take it for her, if I could, but I can't. JoBeth: I think probably Jason and Rachel might say that they have a leg up on me because they do have the disease, so they have a great understanding of what's happening with their children. I feel like I'm at a huge disadvantage because I don't have it. And so, I have to just really listen to her, and try, and be empathetic, and understand, and educate myself, and learn as much as I can about any new changes that are happening with the medicine regiments, or whatever it would be. JoBeth: Yeah, I think I just see the world a little bit differently through her eyes, because she is just so fierce and ... I'm going to use the word stubborn, because she is, and very determined. Sean: I love that you talked about educating yourself. I think even Rachel mentioned her initial journey was to become the strongest advocate for her children that she could become. That takes a lot of courage and a little bit of humility, willing to admit that you don't know things, and that you need to spend a little bit of energy and time getting in the know. Sean: Jason, I want to throw this similar, or a similar question to you. Since you talked about your children being in that teenage years as well, and then we'll go to Rachel. Hers are a little bit younger. When it comes to parenting both your daughter and your son, how do you navigate the challenges that your daughter's up against that your son probably isn't? How do you parent through those differences? Jason: I don't know that I parent them much differently, to be very honest. I know that there's things that my daughter experiences that my son doesn't, with regards to how she hurts, or how often she needs to go to the doctor's office, or the dentist, and just a few more requirements. Jason: Being that they both have some different struggles, I really feel like I treat them equally for what their problems are. In our household, you spoke about advocacy, and stuff like that. Honestly, my wife takes the lead on being an advocate for our daughter. She does way better than I ever could imagine. Jason: I guess maybe the one thing that I could do for my daughter that maybe my wife can't, and something that I don't have to do for my son, is I can understand the pain a little bit that ... It's a constant part of your life. Even when you don't mention it, it's probably still there. Jason: My guess is that I have a little bit more patience for walking through that with my daughter than maybe my wife was, initially. She's become much better at it, probably better than I am now. Sean: I can only imagine the bond that you have with both your children, but especially your daughter, while being able to relate in a way that maybe others can't. Kyle: Rachel, your children, I believe they're a little bit younger, maybe several years younger. Of course, yourself juggling a career, and work, and raising your children at the same time. What is something your little ones have taught you, or have you experienced any noticeable differences in the way that you parent your children? Rachel: They're both affected differently. They both have XLH, so it's interesting because I have different doctor appointments with my son than I do my daughter, just with different complications that they have. They also handle things very differently. They have very different personalities. Rachel: I have to balance ... The way I grew up was I'm tough, I'm going to make it through, I'm not going to let this affect me. One of my children is very much like that, and the other is not. We'll talk about everything, even things that aren't XLH-related, like a paper cut is just the end of the world and is very dramatic about it. Rachel: It's very hard because I have to learn to not do ... To have that compassion that Jason was talking about and not go, "Well, just toughen up. Come on. You've got to live life tough because you're going to have a lot of struggles." Rachel: It's very interesting. I'm learning every day and I don't know that I always do it right, because I want to be the one who has compassion, rather than just being like, "Toughen up," over this. But ... Because they have different personalities and handle things differently, I'm learning about my own parenting, and they're teaching me a lot. Rachel: Sometimes, a lot ... I feel like a failure a lot of the times, but you just grow, and you learn. They're young and I still have a long way to go with parenting them and learning how to do the best by them. Sean: I think, to be safe, I will admit, I am not a parent. I will say that I believe ... Like you both said, you love them. You work through it. Something tells me that as long you're loving them and working through it, you can't be doing it wrong. Kyle: The other thing about that is that, like you said, Sean, I'm not a parent either, but what I do notice when I talk to parents, everybody feels like they're doing it wrong. Right? Sean: Yeah. Kyle: I think that's a really powerful thing to voice that everyone can probably relate to, whether they're dealing with XLH or not. Really appreciate that comment. Kyle: Susan, I want to go to you. You are the leader of the XLH Network. I know that puts a lot of pressure on you to feel like you need to take care of your community. My question is, how do you manage self-care with always needing to take care of the community, as well? Is there a balance there? Susan: That's a really good question, Kyle. You know, it's ... When I took this job, I was warned by a couple different people that you have to remember that you're going to be doing XLH all day, and then you go home and you live ... Or, work at home and live with XLH all day. It never really goes away. It's not like any other job I've had. Susan: Also because of that, for me, personally, the ability to walk away from it at the end of the day, emotionally, has been really challenging because I feel the need so much in the membership and there's always more to do. There's never a day when I walk away and I think, "Okay, I'm done." Susan: There's always something more, there's always more that could be done. That's just a way of leading into your question, which is ... Self-care has become very important for me because of that, for this job. Susan: I try to get outside every day. I try to really manage how I take care of myself, emotionally. I was a social worker for 30 years; a social worker to mental health, working for 30 years. I've learned some tricks along the way about letting your job go. Susan: Just doing something completely different, turning on an old episode of The Golden Girls, or something like that, just to get my head out of the day. Exercising is huge, being around people is huge. All this week, I think in almost all of our centers, we've had a little bit of a discussion about self-care, one particularly that was devoted to self-care, and I think reminding myself, that helps too. Susan: You get to a point where you think you know how to do it. You think, "I've got this self-care thing down," and then ... For me, anyway. Then I hear somebody else's suggestion or a different idea, and I'm like, "That's really cool. I didn't know that. I'm going to try that." Susan: I think part of it also is just keeping open to new ideas for taking care of yourself. I'm lucky that I have the former executive director to talk to when I need to, which helps a whole lot. I appreciate that. It's a learning experience. It'll be the learning experience the entire time I have this job. Kyle: We want to open the floor for Q and A from the audience. If you'd like to ask Q and A, you can type it in the little box there at the bottom. We'll get to that, but what we want to do before we get there is ask each person if they have one piece of advice for maybe for somebody who was newly diagnosed. Kyle: What have you learned in your XLH journey and can you boil it down to one piece of advice? JoBeth, we'll start with you. JoBeth: My first reaction to learning Kara Beth's diagnosis was certainly education and found the XLH Network. I cannot emphasize how important this organization is to somebody who is newly diagnosed, whether it's a child or as an adult. JoBeth: Great resources are available for education. Also, from a support perspective, know that you're not alone. There are a lot of people here who have been what you are going through and everybody is more than willing and happy to help. JoBeth: I would encourage you reach out to anybody, somebody that you know at the network will be more than happy to walk through the process with you. Kyle: Wonderful. Thank you. Jason, how about you? Do you have a piece of advice for us or for everyone here? Jason: Yeah. I would recommend getting in contact with people to help support you, with the XLH Network or wherever it might be. I think me, and like Rachel said, tried to do it alone for a long time and ignored it. Susan loved getting connected with people. Jason: I just probably started a year or two ago, and I wish I would have earlier. Sean: Yeah. I think part of what you're saying there is recognizing that we can't do this alone. That's not a sign of weakness. Maybe that's wisdom, and not weakness. Right? Reaching out to others, whether it' the XLH Network, or a mental health professional, or a doctor, whatever you need. Right? Sean: Recognizing that need and reaching out to others. Jason: Exactly. Kyle: Rachel, how about you? If you could offer a piece of advice for those tuning in today, what would you share? Rachel: It's very similar. I would say that though XLH doesn't have to define your life, you also don't have to walk this road alone because there are plenty of people, there's a community in the XLH Network. There are other people that can walk alongside with you. Kyle: I love what you guys are sharing so far. Susan, don't think we forgot about you. Whether it's XLH or a rare disease in general, what I feel like ya'll are suggesting, is connecting with others, not necessarily making everything XLH your life. You don't have to be identified by it, but having some friendships, connections, and willingness to talk about it here and there, that alone allows you to get the support, or help, or encouragement, or whatever it is you may need along the way. Kyle: I'm personally very careful not to ... I don't put on a shirt every day that says, "I have Friedrich's ataxia. I live my life with that always in the background, but I don't let that identify who I am, or what I can do or can't do. That mentality and that attitude is certainly my choice, and we all have a similar choice. Kyle: I love that JoBeth talks about KB just playing soccer, and Jason and his family, you're just doing life. Rachel, you're still working and raising kids, and hoping you're doing it right. It's not like you're in a compound doing nothing but XLH stuff. Kyle: Although, it's very important and helpful, I love that each of you are continuing to live life in the way that you see best. Kyle: Susan, we're throwing it to you. Can you share with us, whether it be something that took a long time to realize the internet existed, or didn't have those resources, however many years ago, as a director, as someone that worked in the social services arena for a long time, what is something you might share with somebody you're just meeting for the first time that's maybe fairly new to such a diagnosis? Susan: I think everybody's touched on it, but definitely not being afraid to reach out to the community and, again, also not just XLH, but the rare disease community, in general. I had no idea until I started this, how big the rare disease community is and I made some of my best friends through that. You don't always have to have the same disease, but there's so many similar experiences. Susan: The other thing I would just say is also keeping that balance. We talked about that a little bit earlier, but again, we talked about how XLH doesn't have to define your life. It is a part of it, but you also don't have to be it 24/7. You know? There's a balance there. Keeping healthy and emotionally happy, just finding the right path for you. Susan: I guess that's not really a piece of advice, as much ... I would say find a community and also find a balance, is what I would say. Sean: I love how the first part of your answer, I will tie that to a comment Jason made a little bit earlier. Everybody has stuff. Right? We've all got challenges, and hardships, and opportunities, and we just work through it. I love that you all have encouraged folks to just work through their stuff and find ways to live beyond those circumstances, whatever they are, and to empathize for others. Sean: You never know what somebody else is dealing with. That's a takeaway for me. I'm encouraged by what you guys have all shared today. Kyle: Yeah, absolutely. We want to open the floor to question and answer. These questions can be for any of the panelists, for me and Sean, just a discussion topic that anyone wants to bring up. Kyle: We've got a few minutes and we'd like to open the floor. Sean: Susan, I understand that you might have a couple of questions. If you don't mind posing the first one, we'll tackle a couple. Susan: I do have quite a few here. I'm going to start with this one. It says, "Please give your insights into ..." I'm sorry. Susan: "Please give your insights and thoughts about the future for those living with XLH and those who will be born with XLH." Jason: The future has to brighter than it ever has been. I definitely look at it that way. Susan: I agree, Jason. We see these pictures now where children are doing so much better and it's so exciting to watch. I personally can't wait to see when these little ones are 20 or 30, or something like that, and how they're going to be ... What this discussion will look like in 20 years. I think it'll be really different. Susan: We have another question. It says, "For people that have mobility issues due to XLH, especially after they turn 40, how do you manage those issues if you have them, or how have you seen them managed?" Sean: I'll speak to just mobility, as a whole. That's something very relevant to the world of Friedreich's ataxia as well, and thankfully, I'm still mostly ambulatory. I walk with some severe gait disturbances. I often lean on walls. I broke a leg last year and had to use a wheelchair for probably eight months and walker, here and there. Sean: I would say, for me, what's been most helpful is giving myself the permission and allowing accepting the fact that I might need a little bit of help. Not necessarily from other people always, but just tools, whether it be a cane, or a walker, or a chair. Those things ultimately are designed to help improve life, not to restrict it. Sean: I don't see a wheelchair as a restrictive thing. To be fair, I haven't lived in one permanently, but for the eight months that I had to rely on it, to me, it was a symbol of freedom and further independence, more of a sign of something's wrong. Susan: How do you find a balance between not causing more XLH pain and letting the kid live like every other kid? Jason: Ooh. Susan: I think what she means, and I spoke with her about this earlier. Do you let your kids just do whatever they want because you want them to have that balance as other kids do, or do you protect them from the possible falls, and trips, and injuries? Rachel: That's a really good question and I can jump in on that one, because growing up, I loved to dance. I remember my mom having to balance that. I kept injuring myself, but I loved it so much. I remember her asking the doctor, "Could you just tell her to stop dancing, that she's not allowed to dance, because she won't listen to me." Rachel: The doctor just said that he was into sports and he just said, "I can't tell someone to not do something that they're very passionate about." Rachel: I have taken that approach with my kids, as well. Inward, I may cringe when they are wanting to do things that I think they could get hurt. Both of my kids are in karate, and sometimes I'm like, "Don't stretch your leg so much. Don't let them do that. They could get hurt." Rachel: I keep that inward because I do want them to not constantly have to think about XLH and be limited by that. Now, if they want to sign up for tackle football, that may be a different conversation. For now, I'm trying to let them live life as much as they can, and we will deal with what we have to deal with. Jason: I encourage my daughter to be as active as she can be. I described my path that I've had really good success with my osteotomies, and I was able to return to activity over a long period of time. I feel each ... I'm getting better and better, and I feel very fortunate for that, but it's taken a long, slow progression to do that. Jason: For her, I encourage her to work through what pain she can and be as active as she can, until her ... If honestly it does become too painful at some point, to tell me and I'll ... If something's too painful at school, I can take care of it. Jason: If she just says everything's too painful, that's ... I tell her, "We can't do everything's too painful, but go slow, and steady, and steady, and you'll get more." Jason: That's how we approach it. Kyle: It's a balance between pushing them to experience more and keeping them safe. Yeah. Once again, I think the answer is that there is no answer, and it's a struggle for everybody. Right? Yeah. Sean: Kyle and I have a dear friend in the pharmaceutical world, not personally impacted by rare disease, but he constantly talks about our limits. His philosophy on life is you never know what the limit is until you cross it. Sean: Not that I'm advocating we all go out and cross a bunch of limits, but I like the idea of pushing it a little bit. Like you said, Jason, maybe it takes a long time and maybe we just try it a little bit different, or we work up to it. Sean: Finding those limits I think is important, whether you're 40, 70, or 12. I think that's a valuable way to cautiously, but intentionally, pursue life. Sean: For all of us, I know we're at that mark of wrap-up for this timeframe, and again, I'm so incredibly honored and grateful for the opportunity to be a part of this conversation. I don't know about you all, but I am shocked that we just spent an hour talking. It feels like 10 minutes. We still have more time, right? Kyle: I think part of what Sean is saying is, when he says we're grateful, it's because we see such incredible value in conversations like this. Everyone's got the opportunity, as you guys pointed out earlier, to connect with others in the community and continue this conversation. Kyle: I hope that listeners and viewers got some value today and recognize that this conversation can continue between others in the XLH community. Sean: JoBeth, Jason, Rachel, Susan, thank you very, very much. Susan, we'll give the floor to you. Susan: Sean and Kyle, I just want to say on behalf of everybody here and everybody who's been here all week, you guys have been fabulous. I just heard rave reviews about the men's group, and your being here today, and also in all these rehearsals we've done. I can't thank you enough for being here and being part of our XLH week. Kyle: We have a soft spot for sure in our hearts for the XLH community. It's an honor, absolutely. Sean: Kyle and I always have a fantastic time moderating panel discussions just like that one. If your organization is considering programming virtual or live for 2021, The Two Disabled Dudes may be able to help. Visit twodisableddudes.com and explore "The Forum" on our website for more information or use the links in the show notes for this episode. Happy New Year! Kyle: Thank you for listening to the Two Disabled Dudes podcast. Sean: Find us online at twodisableddudes.com and subscribe on your favorite podcast app. Connect with us on Facebook, Twitter, and Instagram. Kyle: Special thanks to our friend and audio producer, Jake Tompkins.
76 minutes | 5 months ago
131 – 2DD Forum at Ultragenyx Rare Family Day
It is clear to these dudes that the patient is at the center of everything that happens at Ultragenyx Pharmaceutical. That’s why we are proud to have moderated a panel at the virtual Ultragenyx Rare Family Day this year. https://www.ultragenyx.com/
42 minutes | 5 months ago
130 – Season 4 Finale – More 2DD Grievances
We all know that Sean likes to complain, and apparently Kyle does too. Listen as The Dudes get a few things off their chest. They were a bit relieved after recording this episode and hopefully you will feel relieved after listening. The video sean mentioned in the episode: https://youtu.be/j7LBBjZBcLs
38 minutes | 6 months ago
129 – She Created What She Needed – Effie Parks
Effie Parks immediately related to Rare Disease podcasts when her son Ford was diagnosed with CTNNB1. However she soon caught up with all of the episodes and came to the end of her life line. So she created the thing that she needed the most. She discusses disability as diversity and connects with parents and many others in the Rare Community through her incredible podcast Once Upon a Gene. Listen to this conversation between Effie and the Dudes to get insight on the value of connecting to others.
43 minutes | 6 months ago
128 – Mental Health & Rare Disease – Dr. Al Freedman
In episode 123, The Dudes asked why we tend to pull away when things get hard such as with a Rare Disease Diagnosis or another life changing event. The discussion did not end with a clear answer so Sean and Kyle Reached out for some professional help. Enter Dr. Al. Albert Freedman, Ph.D. has a unique voice as a psychologist and the father of an adult son with a rare disease. He speaks at conferences nationally on challenges facing families of children with special health care needs, and provides consultation to health care & rare disease organizations, pharmaceutical companies, and schools. As a practicing psychologist in independent practice in the Philadelphia area, Dr. Freedman has provided counseling services to children, adolescents, adults, and families for over 25 years. Dr. Freedman’s 25-year-old son, Jack, lives with Spinal Muscular Atrophy. More About Dr. Al: https://www.freedmancounseling.com/albert-freedman-ph-d Dr. Al’s practice: www.freedmancounseling.com
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