The Special Needs Mom Podcast
The Special Needs Mom Podcast
Empowering Rare Disease Leaders through the Rare Advocacy Exchange Series hosted by Global Genes
In this episode, we sit in on the Rare Advocacy Exchange virtual series. Global Genes is hosting this series in an effort to empower rare disease leaders. As moderator, I facilitated a panel that focused on the challenges and rewards of leading in the rare disease space.
The conversation covered the importance of community, collaboration, and using personal experiences to drive change. Panelists shared their journeys of advocacy, highlighting how moments of isolation became opportunities to connect and push for change.
This episode is a must-listen for anyone passionate about rare disease advocacy, offering inspiration and insights for creating meaningful impact.
Episode Resources:
Parenting Differently When You Expect A Shorter Life with Daniel DeFabio
Global Genes: Rare Advocacy Exchange
Connect with Kara, host of The Special Needs Mom Podcast:
Instagram: https://www.instagram.com/thespecialneedsmompodcast/
Website: https://www.kararyska.com/
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Hi, I am Kara, life coach, wife and mom to four incredible and unique children. It wasn't all that long ago that my son received a diagnosis that had my world come crashing down. I lacked the ability to see past the circumstances, which felt impossible and the dreams I once had for my life and family felt destroyed. Fast forward, past many years of surviving and not at all thriving, and you'll see a mom who trusts that she can handle anything that comes her way and has access to the power and confidence that once felt so lacking. I created the Special Needs Mom podcast to create connection and community with moms who find themselves feeling trapped and with no one who really understands. My intention is to spark the flare of possibility in your own life. And rekindle your ability to dream. This isn't a podcast about your special needs child. This is a podcast about you. If you are a mom who feels anxious, alone or stuck, then you are in the right place. Welcome,
Hello and welcome to the Special Needs Mom podcast. This is gonna be a different type of show and I'm gonna tell you a little bit more about that in a second. I'm gonna start by introducing the characters of the show. Firstly, we have my friend Daniel De Fabio, who was a prior guest on the show, gosh, probably in 2022. So we will link his episode. It was incredible. He is the father of two boys. Lucas is his child that had rare disease. He has passed away and. Daniel has gone on to be, a light in what can be a little bit of a dark place sometimes, and his official role is director of Community Engagement and works for an organization called Global Genes. Some of you are very familiar with this organization, but those of you who are not, global Genes could be a great resource. So consider checking it out. it's a nonprofit organization that advocates for people affected by rare diseases, and they do this by providing resources, education, support to patients, caregivers and advocates. I love it'cause they really recognize all the different components between caregiving and patients, and of course, advocates. So they do a lot of work to connect the rare disease community, and of course permanent awareness and definitely drive research and policy initiatives. So definitely worth checking out if you are affected by rare disease. I. And, so my friend Daniel called me up and he invited me to play a role in the series that was just kicking off, and it's called The Rare Advocacy Exchange. This is gonna be a series of free webinars, or I should say virtual gatherings that are bringing all sorts of expertise to, to us, to this community. So I definitely recommend you check them out. We'll have a link for easy Access in the show notes. So he asked me to moderate the discussion panel that was, gonna be around the topic that I was already kind of geeking out in when he presented it to me. So the two amazing moms, I'll tell you about them in a second. Zoe and Mel, they were speaking on the topic, or really they were sharing their life experience of when leadership is thrust upon you. And I think a lot of us can relate to that. So I mentioned a second ago, I definitely geek out in all things leadership and my training specifically is around leadership. So I love this opportunity. Plus there are so many people that I admire that I've met through Global Genes, and that's gonna come up as you listen to this. Episode, community and connection and networking is gonna come up. So I want you to consider that that's what you're doing now, is you are engaging in community by listening to this podcast and also by considering how you might take the next step to engage even further. And so I love the idea of using this. Talk that we did and kind of bringing it to, to you here in this podcast to further share the wealth really is the attitude we have. Alright, so obviously you're not gonna be able to see the slides that were part of the original production, and so don't worry, you'll be able to definitely partake by listening only. And, I'm gonna start by telling. A little bit about one of the guests, and it's a little bit of a teaser, and it's that it's very likely, I'm saying almost certain that you have heard one of them before and you've heard them through the delight in your ears as she is a. Creative and musician. So super fun. I am not somebody that knows names of bands or songs, and so the name would not help me. but when I heard her band I was like, oh yeah, definitely. which is really cool. And so if you are not somebody who knows names and such, like me, do a little Google because you'll be like, well, this is really cool. I think it's cool. Okay, so let me tell you about the people. So we're gonna start with Zoe. Zoe, English Manville. She's the mother of Francis and the founder of Cure, D-H-D-D-S-U-S-A. She's a creative and a musician in the band. Portugal, the Man, but also focuses on fundraising and advocacy for Rare Disease Weekly. She feels that there's an un. Credible opportunity to use her platform for rare disease awareness and for people to be better educated on this topic since it affects millions of people globally. After getting her child's diagnosis, she realized that there was nothing out there to provide support or treatment possibilities for rare disease kids and family members. So she has made it her mission to change that, which we love. Zoe, created the, Francis Changed my Life campaign in 2023 to share her family's personal story with the world. Zoe's originally from the uk but has resided in Portland, Oregon since 2009. Okie dokie. So now let's bring in Mel Mel Dixon. Mel set up the charity cure D-H-D-D-S after finding out that two hovered three children carry the ultra rare and newly discovered DD DH DDS genetic mutation, which causes a progressive metabolic disorder. Mel soon realized that was limited support and research available on the condition, so with her husband, Charlie Dixon, she founded the Charity cure D-H-D-D-S. Now Mel works full-time for this charity supporting families and driving research in hope of expediting, that's a key word here, a treatment. Mel is also a member of the Genomics England participant panel, CDG UK, and the LSD Collaborative and UK RET. And UK rare epilepsy. so this story is really fun because you're gonna see how these two women's. Story collides as part of the, presentation. Before we jump in, I wanna tell you a little bit about the format so you know what to expect. So you're gonna hear individually from each of them where they're gonna share more deeply of their personal story and journey and kind of how they got to where they are now. And then we're going to jump into the conversation where I join in. By asking them some questions to help drive things deeper, and we get to have some audience interaction. So you're going to hear all of that. Something I wanted you to note is that each of them has been very clear that they are very open to you reaching out to them so that they can be a resource to you. So if you are like, oh my gosh, I have this question, or how did they do that? Please consider reaching out and if you need help finding their contact information, you can reach out to me and we will hook you up. Okay. Well, together is the only way. Let's jump in.
Speaker 2:Welcome to the Rare Advocacy Exchange. We're really thrilled to have you with us for the first session of this special year long event and where we're coming together as a community to drive impactful change for rare disease. The theme theme of the rare advocacy exchange is leadership, and our goal is really to empower and equip individuals with leadership skills to make and drive change. As all of you know, rare disease often thrusts patients and families into roles that they never anticipated. And whether it's advocating for themselves or a loved one, navigating healthcare or creating change within your community leader can leadership can become an essential skill. As for me, even though I had been leading teams for years, when my daughter Juno was diagnosed with a rare neurodevelopmental disorder, I suddenly found myself needing to utilize my skills in a very different way, and importantly needing to develop new skills as I worked to advocate for Juno and we started a foundation, I. Today is your opportunity to gain insights from leaders in the rare disease community, collaborate with fellow change makers, and build the leadership skills that turn advocacy into action. We have a very exciting lineup of eight expert LED sessions throughout the next seven months, hovering strategy, leadership, fundraising, collaboration, life skills, and more. After each session, we'll be releasing recordings for you to revisit and share with others who couldn't join us live and don't forget to to complete the post session survey to let us know what we did in the future educational needs that you have. Last, please share this event with your network on social media and invite others to join future sessions. Tag Global genes and hashtag rare advocacy exchange. Your advocacy and outreach are what make this community so incredibly powerful. So thank you for being here today. I hope you find the next 90 minutes to be filled with learning connection and inspiration. Enjoy the rare advocacy change.
Speaker 3:Thank you, Charlene. This is, I hope you all know by now. This is the first in a series and here are the eight that make up this series. So if you haven't yet registered for others and you see topics here that interest you such as maybe innovative fundraising opportunities in April, or cooperating as patient advocacy organizations amongst other organizations in May, or interacting with the FDA in June, among many other topics, please make sure you do register and attend any and all of these that interest you. This of course is our first one, so you are here. Glad for that. I am so pleased and grateful that we've had a lot of support from our partners in industry, and here they are our sponsors. So thank you to all of them. And. I'm so excited for this panel we have for you. We'll hear first from Zoe, then from Mel. Then Kara will join and we'll have a conversation among the three of them and then we'll open it up to your questions. So with that, please welcome Zoe Manville.
Speaker 4:Hi. Thank you for having me. I'm so glad to be here. I'll take the first slide. I'll just get going with it. My name is Zoe Manville and I run Cure DHDS from Portland, Oregon. I'm a professional singer as well as a main P giver to my 13-year-old bill to Francis. she was diagnosed with D-H-D-D-S, an ultra rare neurodegenerative disease back in 2021. And at this time I couldn't find anyone or any other examples of this disease within the us. I could only read. What was on scientific reports, of which there were a few, and I could not find a single group or charity for D-H-D-D-S. And after a year or so, I, you know, I ultimately gave looking a break because I wasn't sure if what I was reading, like truly to us, because my child had like myoclonic and atomic seizures that were not controlled. But it was hard to kind of envisage like that's what her future would look like. The medications that were given to her to trial had just very negative effects on her personality and behavior, and we were pretty much consumed by that for quite some time before I felt like I could focus on finding more families and possibly, you know, starting a charity. You know, we had many harrowing experiences, but we did eventually land on a couple of medications that weren't so traumatic, and Francis did begin to stabilize. And initially the, you know, the shock of the, through shock of the diagnosis, seeing repetitive seizures and then being told it was a degenerative disease, like whilst trialing all these different medications, like it really amplified the anxiety for me of her regressing and losing her skills. And I felt in that moment that it was already happening. So it was very traumatic and it really broke me. I was kind of just living in survival mode for a while. And, you know, luckily the issue was more her medication and the doses that she was on. They, you know, they just weren't helpful for her. And so we changed neurologists and after feeling, you know, very dismissed and ignored for a while, things started to improve. And, you know, I do regret going down that path as long as we did. But it was all just really new to me and I, I didn't wanna lose my child. So it was kind of hard to, you know, grapple with the bike, whether to go with my gut feeling or whether to listen to doctors. but a certain, at a certain point, I kind of knew that enough was enough. and that nobody really knows what baseline is for my child or what normal is, you know, without them being in my house and spending, you know, a week there in my shoes. But, you know, suddenly all the struggles that she had that we never had answers for, in her younger years, kind of made it made more sense. she had a tremor, consistent fevers and vomiting and developmental delays. Ataxia, hypotonia were there, but we didn't really have a reason for, for any of these things until the seizures came on and a genetic panel was done. And you know, here you see her, it's kind of all different ages, but we spent many, many, many times going to ER and trying to figure out what was going on. And it did, it took. Seven plus years. And you know, seizures was basically the reason why we got a diagnosis of D-H-D-D-S. But once I felt that I had the space and the capacity and Francis was somewhat stable, I began researching and contemplating starting a patient advocacy group. I had calls with other rare disease parents, shout out to Effie Parks, who does once upon a Gene. That's a resource that's been incredibly invaluable to me. Terry of Lac, you know, spent generous amount of time on the phone with me kind of explaining all the things he had done for his kid. And I also connected with Tommy Fam, who's local to me in, in Portland, Oregon with the Raid and Science Foundation. And I think just speaking to people really. I helped me understand the importance of, of building an advocacy group in a, in a charity. I think this was a turning point for me, and it made me see the potential path and grasp the, the reality for most rare disease families. Like, no, I, nobody is coming to the rescue, but I felt that I could see examples of success and it gave me hope. And, you know, I kind of picture it like being a marathon, even though I'm not a runner and I'm getting to different points in the race and somebody from the side hands me a, a quick sip of water and I, you know, I, off, I go running. But I feel like each sip of water is like more knowledge gained and it, and it just helps you keep moving little by little. And I kind of had to think about the skills that I had or didn't have in that time. Like it, it was pretty hard to navigate. When I first set out to start a group, I felt comfortable in my experience with graphic design, something I'd done from 13 years old. And I knew that designing merch and you know, things that we could use for fundraising would be a possibility. I knew that I could organize enough to get a website made, and I did feel confident in knowing how to use social media being a performer. I had to use it regularly anyway, things that were more difficult, were finding the confidence. And the voice to say something from a stage shows where people had come to see music, and I rarely spoke on stage as is. And so suddenly having to tell a very personal story to hundreds or thousands of people felt really uncomfortable for me. And that was challenging because we are private people and Francis wasn't in the public eye much, if at all. And you know, it was hard to share her in a world where social media can, can have its downsides. And speaking also felt tough because everybody's rare disease journey is different and I, I can only discuss what we've been through and my own, my own experience. And I know it's just not the same for everybody. I didn't want to offend people or say the wrong things, and I, I also wanted to be concise enough at shows so that people understood why I'd have to share it. It was a lot of pressure and it still remains to be difficult sometimes, but I am a firm believer in that, you know, practice will generally always bring improvement and I'm not really after being perfect. I think being vulnerable is okay. And it's really just honest. I'm still learning. I'm relatively new to this world still. It's only been a couple of years and I, I do still have rough days. The desire to sort of learn more and facilitate a crucial change drives me and it just gets a smidge easier each time. We, we reach a new goal and make a discovery. And I think my journey started after finding a website called My Gene Two, where I thought I'll just quickly search D-H-D-D-S and UP came one other person who was actually the same variant as Francis, and I was able to send them or their family message, and I didn't get a response right away, but. It was, discovery for me that was like, I found someone and, you know, the same variant. And I knew that there were only six documented cases in papers that I'd read. So I was looking at one in a billion and I, I was like, you know, could they possibly be here in America or Europe? And I was, you know, really hoping for that in terms of being able to communicate with them. And I wrote the family and I waited to hear back, and it took a while, but it turned out to be a teenager in Virginia. And his mom and I have since met a few times and continued to talk regularly. They're lovely. And, they, they're also, you know, dedicating more time to going to doctors that we, we've suggested and, and helping with fundraising. So after I'd, I'd kind of found another family and Francis was stable. I. Thought, okay, I better start looking for how to, how to buy a website domain. And you know, I obviously just kinda went for QDH dds.org and realized that it, it had gone, somebody else had already, so someone had already purchased it. And again, that kind of triggered me into thinking like, who was it? Was it purchased a while ago? Was it purchased 10 years ago and somebody forgot about it? I, was it someone trying to set up this in the present? I realized somebody else was also trying to achieve the same thing. I just didn't know when. And in addition to this, I've been checking Facebook for D-H-D-D-S groups early on, but with Francis being sick, like pretty sick for a year and a half, like I. Kind of forgotten to check. And the website being gone prompted me to look again. And of course, lo and behold, there it was with maybe, I don't know, five to 10 members maximum. And, you know, I, I joined and I was given access, and then I told our story and I, you know, I said what we were hoping to achieve. And then after that, I connected with Mel and I realized that we were both just on the exact same path. Like she, her family, you know, had a new diagnosis. She'd read all the things. She tried to learn everything. And she's desperate to find ways to support her kids. And, you know, same as me. Like I, I wanted to find a way to support Francis and, and anybody else that was going to get this diagnosis. And so going into starting the charity. In the group. I wasn't sure if I was, if it was gonna amount to anything. And then I fast forward to a couple of years and I, and I see that it has helped doctors understand and families know what the disease is. we have more info on what might be able to help. It's built a patient registry, it has united parents experiencing the same thing, and we will have funded nearly half a million dollars in projects by this summer. And it's weird to think that that's just through our tireless work, but most of the time we're just like looking forward, like tunnel vision, trying to kind of, you know, have some successes and we're onto the next thing. Like we, we haven't really stopped to think, I think about everything that we've done in, in the last couple of years. And so around the same time. Slightly before, I think I'd met Mel, I'd gotten connected through a friend in music who lives in New York and knew a pediatrician called Dr. Bombach. And he informed me that he used to work with an incredible doctor who was doing amazing things in the genomics world. And he shared her name and institution and I just sat about like desperately trying to get an appointment. And that person was Dr. Wendy Chung. And it was through meeting her that I was made aware of gene therapies and a SO treatment. And that was a turning point for us to know that scientific advances were happening and there may be a possibility for, you know, though, I, I knew it would be a. It would be Gargan joint costs. And there may be, you know, but there may be something out there that had the potential to help our child. And Francis was nominated in February, 2023, and then she was approved in June, I think it was for, for an a SO treatment through and Lauren, and, you know, this was exciting, but also nervous, A nervous time waiting to hear back. That process was completely anonymous and we didn't know, we just didn't know if she was gonna be compatible for that. So that, you know, to find out that, that she was approved was it just, you know, felt incredible to have that kind of opportunity for treatment. And Francis. Mel's children who also have D-H-D-D-S, you know, they'll be the first people to receive that a SO treatment hopefully. And I think that makes them leaders to trialing something potentially beneficial for other D-H-D-D-D-S parents. And I'm very grateful for the series of events that led me to them. And I'm in awe, awe of the work that they do. And I, I don't take for granted being possibly in reach of that dream scenario of Francis not progressing so much in her disease that she loses herself. And the ability to recognize the people who love and, and care for her the most. I have like very inadequate words to, to describe. Finding that amazing glimmer of hope. But yeah, we will, we're in that process and you know, I, I'm hoping within the next few years that we'll get to trial that, so this is, yeah. Of our socials and we Q-D-H-D-D-S, you know, we have a website. We use all of the socials, the Facebook group. Today we have about 150 members in the Facebook group, and we run Q-D-H-D-D-S patient advocacy groups in the UK and the USA. We, mal and I combine, combine our efforts on on funds, you know, most things, and we check in with each other weekly. And we decided the best idea would be to use the same logo, the same template for our websites as, it would be consistent and just stick with the idea of one entity that everybody could recognize from wherever they were. We've met up with Mel and the family, I think three or four times now in, in Boston and London. Our children connect and get along in are very similar in terms of how the disease affects them and you know, we're just two parents in the world that are doing something to push the understanding and the science around D-H-C-D-S and leading that feels. Strange at times, but, I can't imagine doing it alone now that I've, you know, we've, we've met and I hope that one day, like we can kind of be an example to others as they have been to me. I really didn't feel like I had any time to like sit and wait to see if anybody else was going to do it. It all just kind of happened organically and, you know, it just, everything aligned and I, I felt that I just needed to jump in, not just for Francis, but for what it would mean for, for other people. And I, I, I really didn't want our disease to get left behind in, in terms of the science. And I am fortunate enough as well to have help running my organization via Rare Village. That's another amazing nonprofit started by a rare mom in Texas and Casey Walburn at Rare Village. you know, I, I also rely on her and she's very helpful to me, and she offers her time and her platform, and it's enabled me to juggle just being a singer and a performer. And, you know, I've learned a lot from her. And, you know, I, I, I love how much everybody I've met really offers such invaluable advice and everybody galvanizes each other. And I, I think that's really encouraging. I considered kind of pausing being a, a musician, but I think ultimately it's seems that. Or it felt best to sort of recognize that my position was really unique and I had a built-in travel and platform to raise awareness that was non-existent for DHDS. So for now, I continue to do both because I think it's important, you know, I, we can, to still be true to yourself and not fully lose yourself in, you know, the whirlwind that can be stifling and at times really crushing. I know myself pretty well and as a creative, artistic person, not doing those things would, would lead me to a pretty dark place that I don't wanna go when things are already tough. So balance to me is extremely key in everything that I do. And I don't always succeed, or, sorry, I don't always succeed at it, but I try to be more conscious of it now more than ever. And our hopes for the next few years would be that it inspires people to, to get involved because we are just so much stronger and we can just make more noise as a group and juggling, you know, various roles in life, like as all parents do. It's my hope to find more parents to, to walk alongside with and work with in the USA when it comes to DHDS, you know, however, I, I respect the process and understand why at the moment it's just me and it's just mal, newly diagnosed parents and people are going to need time to process that. And so, you know, it's what I had to go to, but, or, or go through. But when they're ready, I'm here and I'm just glad that we've gotten a head start. You know, we have the ball rolling and so, you know, hopefully we can, we can get more people on, on board. But Francis benefits so much from us living a life in music and it helps her mood, it keeps her active and social pretty much feeds her soul just as much as ours. And she's hopped upon the stage many a time and continues to be a better performer than any of us. You know, I kind of wish I had even an ounce of her confidence to see her up there. Having a great time always inspires me and it, you know, keeps me chasing positive changes, that we can hopefully make for those who receive this diagnosis in future and the support we've had like. You know, using what we know and our skills, art, music, creativity has been so incredible and I'm, I'm glad we decided to go that route route. Like, I'm comforted knowing that we approached fundraising and in, in a creative way, and that, you know, we continue to also push visibility for rare disease. The term leader is strange to me. Like I don't view myself that way. Being a lifelong introvert, it's quite strange because, you know, it's strange to suddenly carry this torch, but I, I do it. Because I, I understand that it's, it's greater than me and the skills will come and the experience will stack up. And I want more than anything for my daughter and anyone with DHDS to have options and community. And if I can lead the way on that and make positive changes to their lives, I'll be happy. I'll never forget the feeling of being so isolated, so terrified, and completely alone, and I just, I don't think anyone. Should ever, ever, ever have to experience that. You know, it's, it's just awful. So, yeah, I, I don't know. I think this is how we are approaching it. We have more shows coming up. I have very, you know, amazing friends and people on our crew, you know, our, our work, you know, performing that are always down to do fun things. And so I'm, I'm very fortunate for that. But I guess I'll talk about Mel and our partnership before I hand it over to her. the balance of our skills. As and what we, you know, we've had to offer has been key, I think, in achieving everything we have in the last couple of years. Like I respect that Mel just went all in. She's so up to date with what's happening. She speaks at conferences often and just spreads so much awareness for D-H-D-D-S. She meets with scientists and clinicians and regularly just educates herself on what's happening out there that might help her. Loved ones, she asks questions. She isn't scared to learn. Proud of her for throwing herself in and having that kind of tenacity and for being a, you know, and she is doing it all whilst being a mother of three children. Like it's mind blowing to me. And I know that she's made sacrifices to do what she's doing. I think we've, we've just managed. Really well together for two people in different countries from completely different worlds. And it's likely helpful that we're British. It feels comforting to me to chat with someone regularly from my homeland. I'm so grateful to partner with her and I will hand it over to her now. Thank you.
Speaker 5:Thank you. Thank you, Zoe. I equally couldn't imagine doing this journey alone, and I feel very lucky to have this partnership with you. And as also Zoe said, it does take a village of supportive family and friends to enable us to do this. I'll now rewind a bit just to share a bit of our diagnostic experience as this is what led us to form our charity. And although Zoe and I live very different lives in many ways, our rare disease journey has been very similar. Here on the slides, a picture of me and my family. This was taken weeks before we got the call from our geneticist back in November, 2022, telling us that two of our three children had A-D-H-D-D-S genetic variant, a single spelling mistake, which we were told was newly discovered, ultra rare, and seemed to have both neurodevelopmental and neurodegenerative consequences. Our two children like Francis had had symptoms such as developmental delay, reduced balance, dyspraxia tremor and social and communication difficulties from a young age at presently don't have seizures, which many D-H-D-D-S patients do suffer with. We were told that as D-H-D-D-S variants are so rare, understanding of them was in its infancy. These variants were only decided, decided to be disease-causing back in 2021. At the time, there were only 59 confirmed cases worldwide. Of our children's particular variant, just seven other known cases in the world. So here you can see excerpts from the key research paper on D-H-D-D-S written by a research group in Italy that we were referred to. some of the symptoms they described mirrored those that our children already lived with, but there were others like seizures, parkinsonism, psychosis, and later cognitive decline, which were frightening. New possibilities we hadn't allowed ourselves to consider. Treatment we were told would be symptomatic, and in ultra rare cases such as ours, it's often down to the parents to help find and fund the cure or treatment like Zoe and John. At this point, we felt completely isolated and completely fearful. There was no one to help us. There was no one taking ownership of our children's disease and no one supporting us with creating a treatment pathway. We wanted to help our children, but didn't know where to turn. And the thought of doing nothing and waiting for symptoms to increase was too painful to contemplate. So we decided to start trying to focus on the positives. We now knew the root cause of our children's difficulties. Many families aren't afforded this opportunity, and while there may be no treatment pathway for D-H-D-D-S currently, now that we knew about these mutations, we would help make one. Having this genetic diagnosis as hard as it was actually gave us the power to intervene in our children's future, and the potential to change it for the better. So we started Googling every published scientific paper on D-H-D-D-S. I'm sure other advocacy groups have felt the same, but reading these words felt like decoding another language. Words such as lysosomes, glycosylation, and iCal meant nothing to us, and we'd have to look up the meaning of most of the words to gain even the most basic understanding. As we engrossed ourself in our children's metabolic condition, we began to get a vague idea of what the scientists were writing about. Even with my very basic knowledge of science, which I hadn't studied since the age of 16, I began to learn more about their condition. I then started to contact every scientist who had written about D-H-D-D-S in the hope to connect with their research. However, when we did finally make contact, we were told by many that although they were still interested in D-H-D-D-S, they were currently focused on other more common conditions. This was truly terrifying. There was a ticking time bomb in our children, and at that time, to our knowledge, no one anywhere in the world was researching this gene change that could check, that could steal their future away from them. Fortunately, however, after many more emails, we began to find small pockets of researchers around the world with an interest in D-H-D-D-S. Our children's condition sits on the intersection of lysosomal storage diseases and congenital disorders of glycosylation. We found that scientists working on these conditions offered US kindness and support, and broadly had similar theories about what was driving the disease progression. So we were advised by the specialist we saw to grow our patient community so that we could gain a better understanding of the natural history of the disease through a Facebook group. I connected with one other parent in Canada who had a daughter with A-D-H-D-D-S mutation. and not long after, Zoe reached out by that point, it was April, 2023. We had just established cure D-H-D-D-S in the UK with the mission of both supported families affected by these ultra rare mutations, and also driving, driving research with the hope of expediting treatments. On the same day that Zoe contacted me, we had a phone call where we shared stories about our kids, the diagnosis and potential treatment options. It was such a relief to speak to another parent who wanted to help and support and build our community, and also to help drive the research. Many families, for a multitude of reasons, are unable to do this, so I felt incredibly lucky to connect with someone else within our very small community who could. While I've been focusing on drug repurposing and gene therapy, Zoe introduced me to n Lauren and a SO, which at the time I hadn't heard of. Together. We've seen the Facebook group go grow to 150 individuals, and here you can see a few of them together. We are also focused on tackling these variants at the genetic level through drug repurposing a SO therapy and gene therapy. As Zoe mentioned, we now thankfully have a number of projects that are up and running. In collaboration with Zoe and Cure D-H-D-D-S, we've partnered with Polar in the US to conduct a drug repurposing screen with D-H-D-D-S yeast models. This has identified nutraceuticals that may help D-H-D-D-S patients. Our children, along with several others, are now trialing a supplement NMN, with subtle but early signs of improvements, including potential improved walking gait. We are capturing this data through twice monthly videos, such as those of our children tandem walking, doing an alchemy spiral, pouring between plastic cups and recalling information about their day. This data is being analyzed alongside their ICAR scores by Professor Ava Morava at Mount Sinai. Through persistence, attending scientific events within our disease area and a lot of hard work together, we've been able to build an incredible scientific research collaborative. The team at Mount Sinai have created mini brain organoids of DH from D-H-D-D-S cells to further enhance our understanding of the disease and test for treatments. Cardiff University has been investigating drugs used for Niemann PC in D-H-D-D-S cells and a group at Montreal University have developed A-D-H-D-D-S mouse model and IPSC lines to name. But a few. The team at Mount Sinai are also now setting up a natural history of the disease, which will run alongside the patient registry that we've created with cords at Sanford. As Zoe, we mentioned the hope of a SO with NN Lauren, which we are incredibly grateful for. Also, dangles on the horizon, as I'm sure you can imagine. Our genetic odyssey hasn't been without its challenges. And here I'd like to share with you a few of them. Isolation. Receiving an ultra rare, newly discovered genetic diagnosis was like being handed a blank piece of paper. There was no guidance, no support, no research opportunities. We felt completely isolated. This sense of isolation has been eased by working closely with Zoe and connecting with our D-H-D-D-S community. Zoe shares the same goals and drive and like all our community has lived the same fears. As Zoe said, through our experiences with our children, the PO role of patient advocate found us. Rather than us seeking it, no one else was doing it. And we both recognized the urgent need for someone to be there to drive research and pursue therapies for our children. Neither of us had any experience of running a charity, and together we are learning every day at lightning speed. It's great having a rare mom who is also caring for a child with the same rare disease to run ideas past and be able to check in with regularly. He can also see a photo of my daughter and Francis. I think my kids have struggled at times to, and felt socially isolated. So meeting a kindred soul like Francis has really helped them. We also joined forces with the NUS one foundation, which is cons. NUS one is considered to be our disease twin, and we've found, that collaborating with two incredible moms there is also helping getting us closer to our goals and vision for the future. We very much hope that through the community we've built and continue to grow. Patients receiving this diagnosis no longer feel how we did when we got given our children's diagnosis. While we don't have a cure yet, those that come to us gain access to a supportive Facebook group, a website filled with vital information and opportunities to participate in research programs, a natural history study, a patient registry, and clinical trials. Our goal is to be a beacon of hope during what can feel like a dark and lonely time. So funding. While many rare disease charities like ours are lifelines for those affected by ultra rare diseases, lack of funding has been a significant and consistent challenge. When we first received the news of an ultra rare genetic disease, we didn't realize that this was just the beginning of our genetic odyssey. The next phase involved the daunting task of raising substantial funds to be able to better understand the disease and access therapies to treat it. We are fortunate in that Zoe and John have a platform through their music to fundraise and raise, raise awareness. However, the financial needs are so vast that we as a community really need to come together to be able to make the progress that we want to. My husband has done a thousand mile cycle across the country on a tandem bike in a lab coat. We've organized community walks, auctions, cake sales, give fund me pages, golf days, been on a, B, C, news, ITV news, local TV and local radio, anything and everything to get research underway. The task of continuing to raise funds at this level is completely overwhelming, and I know this feeling is echoed by many, if not all rare disease charities. And finally, lack of collaboration. The more I learned about our mutations, the more I realized how disparate the research was. Different scientists with brilliant minds were working on their own pieces of the D-H-D-D-S puzzle, but there was limited collaboration between them. We wanted to help change this. Costello Medical has now kindly supported us with three pro bono virtual conferences, the last of which brought together 43 of the leading scientists who are now studying us. That's double the number that had nearly double the number that attended our first. These meetings have been invaluable in giving scientists the opportunity to share ideas and findings and plan research that will be mutually beneficial. Here you can also see some of the comments that the scientists left following the following the exchange meeting. So our final slide is of our children, our community, and all rare disease families desperately want their genetic diagnosis to be translated into therapies that can benefit their kids. And while this journey has been incredibly challenging and at times completely overwhelming, setting up this charity has given us a level of control in what was otherwise a completely uncontrollable situation. We do now feel that we are making real, tangible progress, both in understanding this gene and in looking at novel ways to treat it. And we very much hope. Now through our foundations and through the work that we are doing, that our children and other rare roers like them get the opportunity to have a future that they can look forward to. Thank you for listening.
Speaker 3:Thank you both Zoe and Mel. Fantastic. To get your perspective on this, we're gonna bring in Kara Riska to this conversation. She's been a previous global Dean, speaker, and Kara as the host of Special Needs Mom podcast has done a number of episodes, some of which may be relevant to the conversation today. Welcome, Kara, and you can take the conversation with me and Zoe from here.
Speaker 6:Thank you, Daniel. Thank you. I'm excited to be here. And Zoe and Mel, there's just so much richness in both of you sharing your stories and hearing how they collide together. And I think that is the beauty of being part of this rare community, this rare disease community, is that our stories really do collide together. And, a little bit about who I am and my role here as moderator. So as Daniel mentioned, I am the host of the Special Needs Mom podcast, and I started the podcast because I wanted to bring. A conversation I was having over as a life and leadership coach to this community, to the community of moms that I was getting to know and recognizing that we needed, we needed more support than we had. And so that's ultimately what the podcast is about, is about supporting moms in their caregiving journey and, essentially being the leader that they need to be, both for themselves and for their child. So I founded a community called The Pathway, to Peace Pathway to Peace Coaching Community. And I, of course am a rare mom myself. So my, my son is a brain tumor survivor, so he has multiple acquired rare conditions. And with that, let's get to our panel. So what did I want, what I wanted to mention is that we're gonna, so we're gonna have a panel opportunity where I'm going to be asking some questions to, to Zoe and Mel, gonna do the best to address as many questions and connection opportunities as possible. With that, let's look at some deeper questions to, to both Zoe and Mel. And the theme of course today is when leadership is thrust upon you. So I think the whole idea here is that you are the leaders because there is nobody else. And yet also, you know, it doesn't necessarily mean that you identified as the person that was the right person to do this. What I'd like to hear from both of you actually is how do you see that you've evolved over this leadership experience? So you mentioned both of you a little bit about the skills that you came in with, but you have very different skills having gone through all the steps that you have gone through to get to the point that you're at now. So I wanted to see if you could speak to what do you see in yourself that just really, that you've learned about yourself as you've gotten to this step? Yeah,
Speaker 4:I think for me, I have have learned that it's just completely okay to feel daunted by all this complex info that you're just, you know, reading and learning about constantly. I think over time it just becomes a little easier to understand and to discuss. And I think another thing I've learned is I, you know, I have to take breaks sometimes and I have to listen to my family when they tell me to do that because that is also a big deal. Like, it, it's a lot, it is a lot to take on, especially when you're, you know, you're juggling many, many other things as well. So I, I think those are my answers, really. I think it can, you can so easily get sucked into the stress of it all and
Speaker 7:mm-hmm.
Speaker 4:You know, I, I just don't wanna compromise the time that I actually have with my family to, you know, being full of stress and, and worry. And so I, I, I think it goes back to balance again. But, you know, I think listening to the people around you, you know, when you need to take a break. Awesome.
Speaker 5:Mel, go ahead. I think, yeah, I think for me, well as I agree as well with what Zoe says, but for me as well, it made me aware that I had a sense of drive that I didn't know I had, which has, I think everything that, that, that I've been able to achieve from the UK point of view has, has stemmed really from that. I think the drive to get a treatment's made me or organized, it's made me better at troubleshooting. It's made me. Think outside the box. It's made me with the, like, the scientific literature rather than just giving up. I would read it all. I probably read each paper about 50 times, Googling everything. You know, it's made me work hard. It's given me the ability to speak at conferences and I think it's, it's that drive has it, it's, it's come from that position of wanting just to get, protect your children and get a better outcome. And I think, I think that's changed my, my, my whole focus.
Speaker 6:Yeah, I think in both of your stories or both of the, the presentations that you shared, I think the aspect of being willing to dig so deep because the mission matters so deeply, and I think that that's something that I think this community, has is, you know, we're not, we're not just working for a bottom line success story. We're, we're working for the, the life, the wellbeing of people we love deeply. So, Zoe, you talked about how you were in survival mode for quite a while, and yet at some point you decided it was time for you to add additional role, you know, additional identity to your role, and that would be, you know, leaning into starting the organization. How did you know it was time or what, if you look back to that time, what can you remember about the shift that you had to be able to take the steps that you did when you were ready? I
Speaker 4:think looking back, it was probably just those phone calls that I had, I, it felt like it happened organically for me. Like I suddenly, things weren't insanely stressful and traumatic at home. And conversations that I had had with, with people like Effie Parks for instance, where I was like, I, what am I doing? I, what am I supposed to do next? And you know, she told me nobody knows what they're doing, which made me feel better about things.'cause I was like, I dunno what, I'm like, how do I, what do I do first? And so I think that was comforting to know, like I just have to kind of. Stopped with the doubt and the, you know, sort of stressing about it. And, you know, they asked me if I had patient, a patient advocacy advocacy group and you know, the answer was no. And, and multiple people around that time that I had calls with just kind of said, you need one. Like, you just absolutely need one. and it's, you need to get it going now. And so that's kind of where it started. I just was in a place mentally to, to begin tackling that and to get it going. So it just kind of gave me that push to do it.
Speaker 6:Got it. So you had the little breadcrumbs of, okay, I know I need to do this one thing, which is create the pa the patient advocacy group. Yeah. You got that from connection and networking. So that gave you the, the first kind of step in the order, if you will. Okay, got it. Anything come up for you with that question,
Speaker 5:Mel? And mine at the time we got the diagnosis, the, the movement disorder specialist that we saw, you know, I was saying to her, you know, what can we do if this is something that's gonna get worse? I don't wanna just like, wait, be reactive and wait for weight for symptoms. So I said, what can we do? And she said, you know, well, in ultra rare cases such as these, it's, it's been the, the parents have often helped find and fund the cure or the treatment. And as we were digesting all this, information about their rare disease, that, that kept coming back in my, in my head. So I think I gave myself, I don't know, about a month to digest the news where we, like, like I said, we were, we're, we've been really private about our kids difficulties. But then I realized, all right, I need to first like, come out now and, and, and tell everyone because we're gonna need our community's support behind us. So I think about. About a month after. But it was very, it was, it was probably the best advice and the most realistic advice I could have been given at the start, because there is no knight in shining armor coming to, coming to your rescue in this sort of situation.
Speaker 6:Yeah. Thank you. So you guys have clearly, partnered together. You ladies have partnered together. we can see here it's, it's shining so brightly that leadership is not a solo sport. And I would love to hear a little bit more about how that partnership looks like on the day-to to day basis. How do you work with each other to support one another in the areas of one another's strengths and weaknesses? So, Mel, I'll ask you to go first. So just kind of behind the scenes of what does it look like actually for you guys to partner together?
Speaker 5:Well, we're in contact every, every week, you know, and some days we can be in touch a lot with like, lot depending on what's going on at the time. If there's a decision to be made, we could have multiple tech, often texts going back, back and forth with WhatsApp a lot. I think we both really value each other's perspectives, and we both know we're equally invested. We both want the same outcomes. So I think that works really well for us. I think we've also worked really well together to build our community and also to try and build the best, the trust of our, patient, community, and scientific community. I think our partnerships definitely helped with that, and I think together we are able to motivate each other and, and support each other, you know, when the kids are trialing different things with, you know, we can speak to each other, see how the, see how it's going. It's just, it's, it's so, so lovely to have somebody to share this very unique experience with and I think that that makes us both better advocates and leaders.
Speaker 6:Anything to
Speaker 4:add for you, Zoe? Yeah, I mean, kind of speak to. Being able to talk to Mel, you know, daily or weekly. It just kind of boosts my drive. It helps me to stay focused, having, you know, a another mom who completely gets it, you know? And she, she has, like I said, three children, two of which with or who have D-H-D-D-S. And so, you know, her motivation and her dedication kind of helped bolster mine. And, you know, it, it does remove that solitude and loneliness and, you know, it kind of just gives you, creates the space to just kind of get on with it. And, you know, I, she keeps me updated on things and yeah, we just, just check in all the time and it's, you know, it, it just keeps, keeps us going and keeps me focused.
Speaker 6:Yeah, so it sounds like there's a deep friendship along with the partnership and the mission at hand. Let's move on to our last question of the panel. And Zoe, you talked a lot about how having people networking, give you a little bit of guidance, encouragement along the way, like Effie at once upon a gene, how meaningful that was to you and how impactful I would like to hear just what advice would you have to others that are at various points along their journey, what you would say if maybe they don't come as naturally to networking or kind of where they would start, where you would suggest that they start in creating that network, in that connection with other people.
Speaker 7:Hmm.
Speaker 4:This is the hard one because I mean, I admittedly like I am that person, like despite being a singer who gets on stage and you know, performs to so many people, I. I still get nervous and I still sometimes, like, you know, if like we can do new things and I feel like not comfortable in it yet. Like, I dunno what I'm doing. And I think the same thing applies to this really, like, I, I think the more you attend things, the more you read and learn. Like, I, I think before I discovered the podcasts, that there were podcasts out there where I could listen to people's actual stories before that, I mean, I, it was just awful and awful existence like feeling com, you know, completely isolated. And so, you know, I, I think that's where it starts, that you have to, you have to do things like this. You have to join conferences, listen to online conversations, listen to podcasts, and try to connect with people in your own town or city that. Might, you know, relate. I, I, I think, yeah, it's such a, it is a weight lifted, even though the situation is, is obviously really challenging. But, you know, I think that's what I would recommend to people, because initially, like just talking to friends of family about it mm-hmm. Left me, you know, not no fault of their own, but it left me feeling worse, more on my own. So I, I think, yeah, if you're wanting to get involved and you are wanting to understand it better, I just, I think that's the best way. You have to just start making calls and emailing people. And I would say majority of the time, like I've, I've gotten responses and I've spoken to people and I've, I've never felt like a burden. It's always been really, really great to hear people's stories and, and have their advice as well.
Speaker 6:Thank you. Yeah, so what I hear is just start with one email, start with one, call or text. Mel, anything to add, given your experience with reaching out to people and just your nature,
Speaker 5:just not to be, not to be afraid of reaching out. I mean, I would like, like Zoe, I would, I would read a paper and then I would, while it's fresh in my head, I would email that specific scientist and like, talk, I think engage with what they, the piece that they've written about and explain a bit about our background. And I found them if they, if they know that you are interested in their work and also very dedicated to get a better outcome. They, they, they were, they were really supportive of us and I'd listened to a podcast and after that podcast, oh, that scientist might be able to help us. I'd email them and then not to be afraid of asking people once you've made that connection. To join your scientific advisory board mean half the time I was, you know, sending an email to somebody to ask'em that question. I, I never in a million years thought that they'd say yes. But, but you know, it was amazing when they, when they did get back and say, of course I'd love, you know, I'd love to support you. So not to be afraid to ask those particularly that are working in your disease area. I think that's so key because they, they've already got that, that real interest as well I in, in, in your disease, so, so they're much more, more likely to, to be supportive and to want to help and they, that you've got their interest already as well.
Speaker 6:Lovely. Well, as we wrap up, wrap up this portion, I wanna highlight that both of you exemplify, excellent leaders as you were, you were literally creating something that does not exist and. You don't, you don't know how, but what you so know is the what, what you're doing and why you're doing it. And so I think just so wonderful to hear your stories because I think we can see ourselves in your story, in your stories and remind ourselves that we don't need to know the how. Yeah. we just need to know the next step. So let's move into the q and A portion. And McKinsey is gonna feed us some questions. I am. And let's hear'em.
Speaker 8:All right. So our first question, is an anonymous question that came in and it is, any advice on where to turn when advocating for yourself? Just isn't enough to get an answer.
Speaker 6:Isn't enough to get an answer? Well, I would assume that would be the answer that we want, which would be what's missing? Does anything come up for you, Mel or Zoe?
Speaker 5:I think that, I think that's, that's a, a, a difficult one. I think if you, I mean, my advice if you are, if it is, if it's a disease specific question and you know, you know, the disease, even if it's a, a very rare disease Yeah. Is to, to reach out to the scientists specifically working on those, on those disease areas and you'd, you'd reach out to them by reading, reading their publications. You can look to, I think it's the first and the last authors listed in the publications are the ones that have the greatest involvement in, in them. So try to reach out to, to the, to the authors of publications that are involved in your area of research would be a first step. Well, that was, that was my first step when we had no answers.
Speaker 6:McKenzie, do you mind reading that question again? I wanna make sure we address it to the best of our ability.
Speaker 8:Yeah, so it says, any advice on where to turn when advocating for yourself just isn't enough to get an answer? I think that's exactly right. When, when you're looking for, you know, when you're undiagnosed or maybe there's no treatments yet, what's next? Where do you proceed? I think, I think you got it right, Mel. I think that's, that's the right, right way to answer. Good. So next question is, how did you convince scientists and doctors, et cetera, researchers, pharma to use assos in children? Well, we are,
Speaker 4:that stage yet I would say going through Enlo. I mean, that is all handled I think, and we are in early stages of that anyway, so it's kind of hard to answer that question. I think that when the time comes, you obviously apply to. Fda and you have an IND and you, you have to go through that process right now. I mean, we don't know. I mean, we know that an A SO will likely be developed, but obviously there's also another stage of getting that from development, like into a person and there's a, there's probably a lot of hoops to jump through there as well. So we don't have that yet. We're not at that stage where we are just kind of, I think we've been, is it a year or so out, Mel? Yeah. And I think,
Speaker 5:well, I think another, we're, we're at least another the year or year, or, well, us anyway, I think. But I think also like the, the, the safety data is, is it's so rigorously checked before it would get to the point of getting to FDA. It wouldn't if they, if there was, I think, well, and Lauren have a hundred percent safety records, so if there was any doubts over safety, they wouldn't go forward with the a SO anyway.
Speaker 8:Yeah. That's great. That makes sense. Sounds like once it's that time you guys become even bigger advocates, right? And really encouraging the FDA, so that's wonderful. Next question is when someone is late diagnosed with a rare condition such as ER's, Danlos syndrome, and seeking help for decades, the patient might get labeled as a drug seeker or problem patient. And so how do you think advocates can work on combating that, you know, label and getting that drug seeking label off of their medical records or problem patient off of their medical records?
Speaker 6:McKenzie, this is such a passion invoking question because I think it's, for all of us, I think we would say this question should never be asked. not the question, the issue should never be had. And actually McKenzie, I know you have an experience, with this. Would you mind starting us off and then we'll of course, of course. Open it to Melon Zoe.
Speaker 8:Sure. So for those that don't know, I'm also a rare disease patient. I have ler Stanler syndrome and I was not diagnosed, although my first medical emergency was at 18 months old. I wasn't diagnosed until I was 25 after seven or eight surgeries that just weren't healing. And so I've definitely been in the spot of being told, well, my parents being told that I'm looking for pain medication and for I. That I'm difficult and you know, complex and all of the things. So I mean, my biggest recommendations, especially for the late diagnosed is first of all, don't give up. You know your body best and continue to stand with that. As an advocacy leader, you have to be your biggest advocate. I think a couple of other things that you know I've done is I have had other healthcare professionals who are not the ones that have labeled me those things, like write a letter and say, Hey, she got a genetic diagnosis, you guys are wrong. You owe her an apology essentially, and have that in my medical records. So I think that's a really great option as well. And yeah, essentially just really continuing to, to advocate. I usually show up to appointments and say, I don't want pain medicine. It makes me feel gross. It makes me feel not coherent. So what can you help me with that will actually improve my quality of life? And by prefacing with that, they usually don't question me anymore. But it took a long time to get here. So that's where I come from with, with this experience. Thank you so much for that. And Mel,
Speaker 5:Zoe, anything to add? It's, it's lack of education is, it's just, and that's where a diagnosis is really helpful, but for the people that don't have a diagnosis, it's, it's really, really difficult. I think, you know, for, for us, I would go into the appointments with like information on D-H-D-D-S because we'd go, we'd see a clinician, like the community pediatrics team, they would never have heard of it. They dunno anything about it. So we felt our role was really to educate the clinicians when we see them in an appointment. Yeah. But I appreciate for someone that hasn't got a diagnosis, that's really, really difficult.'cause you haven't got a specific answer to give. Yeah.
Speaker 8:All right, McKinsey, next question. Awesome. So next question is, could the panel please provide some ideas on how we can encourage collaborations between organizations that represent a broader group of rare disorders, but encompass the same, you know, therapeutic area, but maybe they are not ready to collaborate with others? How do we encourage better, better communication?
Speaker 4:I think this is difficult. I know, I guess with our disease, we have a few different options, right? With lysosomal disorders and with epilepsy, and then movement disorders. And I think there are obviously organizations for those things as well. And so. Sort of attending those things or joining those conferences as well and kind of getting out there and speaking to some of those people that, that speak during those events. You know, I think that can help bridge some gaps. But yeah, I, I, I think that's kind of what we've had to do right now. It's just like we, we kind of have to look at the symptoms and then see if there's other existing organizations for like each one and try to kind of, you know, advocate for your disease and make sure that they're aware of you
Speaker 5:Yeah. Within, within the umbrella organizations. And I think there's real strength in that. And, you know, we are looking at repurposing with our collaboration with the lysosomal, storage diseases. We are looking at repurposing drugs from their community for, for D-H-D-D-S. So, so sort of we hope with. The rise in whole genome sequencing where you've got all these, you know, very rare, new diagnosis coming out, that there is more opportunity for sort of basket trials where if they, they follow a similar pathway or the, the, the, the endpoint is the same, you know, for us, like the, the accumulation cholesterol accumulation, you know, you can hop on drugs from these bigger disease groups that have already had, you know, rigorous safety testing and have shown efficacy. So I think there's, there's real opportunity in, in, in joining, you know, any umbrella organizations that, that, that fit with your, that fit specifically, that fit with your disease as well.
Speaker 6:Thank you so much, Mel. And we have time for one last question.
Speaker 8:Mel, you talked a lot about reaching out to researchers, and I think a lot of other people here would love to know. What kind of advice would you give to maybe newcomers who. Have not reached out to researchers and what, what language works best when communicating with scientists because, you know, it's a, a different level than, than maybe we use in everyday language.
Speaker 5:I think, I think they appreciate it if you've read their papers and the, the work that that, that they've done. And I think they also, the, the value that we bring as a patient community is that we've got the lived in experience of the, of the disease and we're connected with that, that you, with, with the patient community. So I think if you, you try and make yourself, as appealing as it is to the scientists, that's what we've sort of tried to do through our charity by bringing the patients together, by having some fundraising so that we've got some fundraising to, to maybe start preliminary research so that they could then maybe hopefully apply for a grant for the next round of research. I think also asking them, yeah, asking them directly like what could, what can we do to help promote research? What, what, what, what are you missing that we could, we could maybe provide? I think having an sort of an, an open dialogue like that seems to, seems to work well so that they know that you want to bring something else to the, to the table as well, to further research and, and, you know, further the therapies really for, for the disease.
Speaker 6:Yeah. Mel, your answer really I think reflects that you, you come to people bringing value to them and or recognizing that you guys both have something to offer each other in the communication. So I'm sure that comes across in, in your, in your communication when you reach out.
Speaker 5:Yeah, and it's taken me a while to realize that, that we do actually have value. I was so grateful if anyone would get back to me before, because you'd send a lot of emails before anyone would get back, but actually when you start to realize the value, you can sort of. Sell yourself a bit better and your charity and your disease and, and try and make yourself, your disease area more, more appealing.
Speaker 6:Yeah. Great. Wonderful. Well, I'm gonna turn it over to Daniel, who I think is gonna move us into closing out this portion and moving into our breakout sessions.
Speaker 3:Yes. Thank you Kara and Mel and Zoe. Again, thank you to all these great sponsors that made this possible for us.
All right, we will wrap up there. I didn't wanna just dump y'all off at the end. I wanted to say a quick closing and in the live version we went out into breakout rooms. Obviously we're not doing that here in the podcast version, and I thought, you know what? So now it's a good time to say, hey. Don't be a stranger. Thanks for being part of this community, and I would implore you to consider saying hi. An easy way to do this is using the text feature of a show where you can literally click it like you're texting somebody and literally just write, hi. I mean, I do think it would be more fun if you wrote a little bit more than that, but, tell me where you're from. if you're new, if you're old, what you like, what you want different. I'd love to hear any of that. And since you're already clicking, maybe you could even like click a few more buttons and leave a rating and review. The reason as podcasters beg everyone to do this is because it tells the algorithms that you like listening to the show and you think others should too. Therefore they should show it to other people. So that's why it's really helpful to us so that we can. Have all the effort that we put into these shows be shared for those that would benefit. Okay? With that, we will see you on the next episode.