Episode 8: Hope, Awareness and the Future

This is the last episode of the podcast, where I reflect on our journey through the series and share some thoughts about the stories and perspectives that we listened to throughout this period of time.   

We spoke to patients, their families, researchers and healthcare professionals, and in each episode, we gained a new perspective on living with and treating the Alström syndrome.   

In this last episode of the series, we will remember some of the most memorable moments and listen to the final message that our guests have for us as members of the Alström syndrome community  

Most importantly, this episode looks towards the future, the importance of continued research, greater awareness, stronger support and making sure that the voices of people living with Alström syndrome continue to be heard.  

Thank you for joining me on this journey and for taking the time to listen to the stories of the Alström community.  

To learn more about Alström syndrome and the support available, visit Alström Syndrome UK: https://www.alstrom.org.uk/  

Disclaimer  

The views and experiences shared by guests are their own and are intended for awareness and educational purposes. This podcast is not a substitute for professional medical advice. If you have concerns about your health, please consult a qualified healthcare professional.  

Music  

Music by Scott Buckley  released under CC BY 4.0. https://www.scottbuckley.com.au/  

Transcript

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SPEAKER_01 0:14

Hello and welcome to Living with Elstrom Stories, Challenges and Hope. My name is Abdullah Jawad and I am a master's student in media production at Birmingham City University. I also live with Elstom Syndrome. Through this podcast series, I'm sharing the experience of people living with Elstom Syndrome alongside the voices of families, healthcare professionals and researchers to help raise awareness and improve understanding of this rare condition. Over the past seven episodes, we have explored many different perspectives from clinical care and research to family support, lived experience and the importance of community. Today is an opportunity to look back on everything we have learned together and to think about what hope, awareness and the future really means for the Elstorm community. Thank you for joining me on this journey. Throughout this series, we have had many powerful conversations. Let's take a moment to revisit some of those voices.

SPEAKER_06 1:21

The first part of people thing is as a find a buddy in the community. Join Elstorm Syndrome UK, go to the community event coming up, and meet some friends within the community to provide some peer support across. I think that's the first aspect I think that would be helpful. Secondly, make sure that uh if it's a child they're getting all the appropriate help in school that they need, or a young person all the appropriate help in college. And again, Arsenal UK or the medical teams can help uh with advice about how to get that sort of help altogether as as well. And thirdly, there are some really inspiring stories of people with Oldstrom who've done some remarkable things despite their condition. And I think the attitude from them is that they live life to the full despite Alstrom, and they're not ruled by the condition altogether. And I think that's a really inspiring story that some people have that they're able to do that.

SPEAKER_03 2:15

I think I would say that there there is genuine reason for hope. Research, as I said, it does take a really long time, especially for rare diseases, that we we're seeing, as I said, incredible progress in um, for example, treatments for cystic fibrosis, where decades of research eventually have led to like life-changing treatments. So I think it is important there is a reason for hope, but it is also understanding that we are slowly moving forward. You know, for me especially, it's important that researchers uh internationally were sharing knowledge with each other and we're starting to come together. So although this isn't something that we will necessarily find treatment for immediately, I think there is a genuine reason for hope.

SPEAKER_12 2:54

I think that if it's their first time coming to clinic, I try and stress that it is really full on. It's really busy and it can be really overwhelming. But if they are getting to a point where it's too much, then they can just say, Do you know what? I just need time. I just need 10 minutes just to get myself together before we go into the next test or the next consultation. And that's what I would say is when you're coming to clinic, we know that it is going to be really full on, but it's for you, so take your time.

SPEAKER_11 3:29

And if there is something that you find difficult or uncomfortable, please say the team wouldn't want you to be uncomfortable, unsure. If it's you're a parent and it's your child, especially younger children, you know, the team are not necessarily going to expect that they're gonna tolerate all the tests, and yeah, you know, there's there'll be the opportunity the next year, or they can follow up things locally, so try not to worry too much, and because we know families do worry, they're fine. And it is okay to say no. No, yeah.

SPEAKER_12 4:09

It is absolutely okay to say that's not going to happen today. You know, if there's a blood test, for example, and the child's just not having it, as we know some some people don't like them. That's absolutely fine. If it's not gonna happen, it's not gonna happen. Of course, the clinicians would love it to happen, so they'll give it a go. But as a parent, you can say, no, that's they're tired, that's enough.

SPEAKER_13 4:30

I think sometimes people read about Alstrom and think it is so complex and it is difficult to live with sometimes. But what people fail to see sometimes is to look beyond the condition, because my son is very clear that his condition will not define who he is as a person. It's something he's had to learn to live with, and but he was still adamant he was going to live his life and that nothing was gonna stop him doing the things that he wanted to do. So I think sometimes we need to have that ambition, we need to have that high expectations. We just need to make sure that we're putting that support, that scaffolding, that that support around families and individuals and to enable them to be the people that they want to be and to do the things that they want to do. So I think it's about seeing that strength, seeing that resilience and trying to change the way that that services and support is delivered because sometimes we just need those adaptations to be able to make sure that we can thrive and our children can thrive in the same way, and we should have the same expectations as we do for anybody else who's not living with a rare and complex condition.

SPEAKER_07 5:36

I'd say um anyone who's newly diagnosed is get that mindset of it's for a younger person, it's a lot more challenging because you don't know much information. Uh you're reliant on the hospital, you're reliant on your family, and if your family don't know, then you're relying compassing on the hospital information. Or ASUK. So it's a lot of it's gonna be seeking information, you know, and just finding people to talk to. You know, if you've got if you nearly diagnosed someone's talking to someone who's gone through the condition, you know, can a mind that easy can put it make things a bit easier. Uh the biggest thing I would say is, you know, at first it's really difficult, but you know, as you learn more information, as you understand the more, you know, it becomes easier and you don't let it put you down, you know. Keep on going, keep on striving. It's easy to say, yeah, and it's difficult to do, but the more you take it in a positive manner, the more you'll keep on going and you know, you'll you'll uh learn to adapt and know how to manage your condition and still be able to go about doing all those things that you that you would want wanted to have done.

SPEAKER_02 7:03

Well, I have like my sort of what I would like, my my unrealistic hopes. My realistic hopes. So unrealistically, I'd love to write like a best-selling book that got tucked into a film franchise and then I'd be like a multimillionaire and have international success would be my unrealistic dream. But I think my my more realistic hopes and and goals for the future is at the moment it it's to be healthy. I'd really love to get my heart back to a healthy level and to to get on top of um that heart failure at the moment. I've done it before and I'm I'm really hopeful I can do it again. It's getting my chromes to leave kind of on an even keel. So it's not stopping me from going out and living the life that I want to. It's definitely being able to visit those friends, certainly in the UK that that I've made. So getting out and visiting friends and making more memories, having more fun, doing more of the things I enjoy. And I think with work, like with work, I've been so lucky that I've I've kept all of my work commitments. So I think for me it's kind of building that back up again, having more counselling clients, also raising more awareness for Ulster syndrome and helping more families go through those challenges. Um because I think that's so important having somebody there to help you through that that early stage or even the middle and the end stages is having someone to talk to. So I think my my goals for work are to keep keep working, keep doing what I'm doing, keep raising awareness, and have the life that that I enjoy, do the things I enjoy for as long as I can.

SPEAKER_08 8:46

We've been wanting to come to the festival, but we live up in Scotland. So this is the first time we've been able to make it, and we're really glad because uh being part of this community really helps support us. It's because of Elstrom being something that nobody really knows about. It's nice to be around like-minded parents, people you can chat to, who understand what you're feeling, learn new things. Best of all is all the support we get and how to handle with our children. Wow, it really it's relaxing. It's I actually feel really good being here with my family. It's just the hard work that's been put in to make us feel so welcome is just amazing. I think it's just nice if people knew more that Alstrom was out there and there if it was a syndrome. And I mean it's like especially like with Tristan, he wears glasses. And everybody comes up and goes, oh, cool shade. And you know, to try and say, well, he's got Alstrom, you know, to fix his eyes, it's just like they look at you like they don't really understand. I just wish there was some easy way to explain what Alstrom is. I think most of all, what's important is that we actually just when you have a child that God is with his Alstrom or any other special needs, that people are just caring, understanding, and not judgmental. And don't compare children because what my child experiences is very different to the next child. So I think we just need to support each other.

SPEAKER_00 10:26

It was my son Tristan, and it seemed like a good uh occasion to come to for the kids. I'm just thankful that it is around, uh especially for the support that people like Sarah give at his schools. So that's that's that's brilliant. I think we're fortunate because certainly any doctors up in Scotland and teachers, they've never heard of it. But they all make the effort to go read up about it before Tristan gets to see them. So um Yeah, I I I with Tristan at the moment, I don't think there's anything extra that could be, you know. I think people make the effort, certainly in my experience.

SPEAKER_01 11:05

Listening back to those conversations reminds me that even through everyone's experiences with Elson syndrome are differently. There are many shared themes: hope, resilience, community, support, and the desire to keep going, to improve life for future generations. I also spoke with members of the Elsom community, research and healthcare professional during the family festival. Here are some of their thoughts about hope, awareness, and the future.

SPEAKER_09 11:35

Um I was at the festival two years ago. That was really fun, and I found out a lot about Alstrom syndrome, met lots of lovely people. And when I heard that's what happened again this year, I thought I'd come and see, meet people that I've met before. So that's why I'm here today. It is really important being part of the Alstrom community. I'm one of the researchers at the University of Birmingham who's uh looking at into doing drug screening for Avstrom uh syndrome, and it is important for me to find out what the community needs so that I know how to prioritize my time and I do the things that are most important for the community. And this is a really communicative friendly community, and I find that it's actually really good to talk to them. So this is um it's a really important thing to be part of the community. That's what makes me feel actually really happy on particularly today because it's a lovely sunny day out and I'm meeting lovely people, so obviously, this is a really good way to spend a Saturday morning. When I talk about uh rare diseases in general, a lot of people say, oh, it doesn't affect many people, and therefore why should we focus on it? I think if people met people with Alstrom syndrome and other rare conditions, they might understand why we are so passionate about doing research on Alstrom syndrome.

SPEAKER_05 12:38

To be honest, we like to do all these different uh festivals and all the activities brought on because it's nice to get to know the rest of the community, get to interact with other people go into the same situation and seeing how they define how they what they find to help and respond a bit. It's hard to get him to come out, he de likes to seclude himself away a bit. So it's like these, I guess. It's nice to get out and get into interact and enjoy the things. He's he's enjoying it. I think it's just a bit too warm for him today. It's nice, just uh it actually makes you feel like one big family. Everyone's there helping, everyone's willing to give you any bit of advice and show you any way along. And it does feel like it does really feel like family since we've been in there. The first one is uh makes me feel really blessed. It's nice to know that those people out there think of helping us out. And it's nice to get a day out, as you know. A lot of people don't get chances to go out and do these things very often. It's a bit more cool because it's um such a rare condition. It's everyone's got a sort of different view on it, and like I said, I think they're still learning on the on it's a big time at the moment, so it's uh it's one of those ones that it's nice to start getting out there. But like you said, there's so many rare conditions out there, it's gonna it's gonna be really hard for them to get it all out. Back down the ways where we're from, none of the doctors know about it. I think the only ones actually know about it is the ones we've gone to see about everything actually have a researcher. So it's nice to see that there is more people getting involved in it. I think the only thing I'm gonna add everything is just be kind. Treat everyone exactly who we are. Everyone's going through their own problems, everyone's got their own issues. Just be nice.

SPEAKER_12 14:24

Well, I work with ASUK, so partly work, but partly because it is always great to get together face to face to meet with people and families and individuals, and uh I've not been to New College Worcester before, so that was a new experience for me as well, having a look here. And just yeah, just bringing people together, and it's really great for me to be able to be a part of that, which is um really enjoyable. Um I hope that being part of it I can give some support to people. I hope that I'm a good listening ear for people. Um I hope that if I don't know the answers, I can always go and try and find them. Just to really to make everyone feel a bit connected. I think with Ulstrom syndrome, it's really difficult, it's so rare, and it's not like there's going to be somebody living in the next street that's got the same that's got Ulstrom as well. So you know, you you can be feel really isolated, I think. And that to me is is trying to bring that community together and trying to get people in touch with people and connecting whether or not on Facebook or with hoping to start off the Ulstrom chats again, which was for parents, it was set up for parents of children that have been diagnosed, just to share information and advice and helpful tips and things. So I think just yeah, just sharing the knowledge and just feeling like you're not going through everything on on your own, which it can feel like a battle sometimes. So, um, so yeah, so that's what being part of the Oldstrom community means to me. Well, today is making me feel hot, but but the festival with everyone together, it makes me feel really happy, really proud of um my colleagues who've put it all together. I've literally just turned up for the day. So really proud of what we can achieve and really proud that a lot of families and individuals have come and want to spend the day with us, really. So that makes me feel really happy that I feel that we're connecting people. Well, I wish that more people knew about it to start with because it's so rare, very, very few um people do. But I think the same with any condition or disability or or whatever terminology you'd like to use. I think that I wish people would just be a lot more understanding about the fact that there's lots of different people in the world, there's lots of different needs that different people have got, and let's just all try and get along as as best we can and help and support people because you really don't know what they've got going on in their lives. And so I wish people were just a bit more understanding about things. And so, yes, but in general, I wish more people knew about Oldstrom. I think I would share that you're not alone, that there is support out there, there are resources out there, there is knowledge out there. Don't try and do everything on your own because it's exhausting and you will become burnt out. And there are people along the journey that that your life is going to take you that will support you, and they'll be a great help to you and of benefit to you. So I think I'd like to share that message. Reach out to people, you'd be surprised. Most people are nice.

SPEAKER_01 17:37

When I first started planning this podcast, I wanted to create something that allowed people to hear real stories from real people. As someone living with Elson Syndrome myself, this project has become much more than a university assignment. It has become an opportunity to learn from people who experiences are differently from my own while also being aware of the things we have in common. Speaking with Dr. Tim Barrett reminds me how important really diagnosis and specialist care can be. Listening to Leila, research showed me that there are true people working towards a better understanding of Alstom syndrome and future treatments. Sarah and Claire show how amazing practical and emotional support is for families. Carrie showed how personal experiences can inspire leadership and create lasting change for an entire community. Harris and Melissa remind me that every person's journey is different, but that resilience, keeping going and hope are qualities shared by many people living with Alstom syndrome. And also, visiting the family festival was one of the highlights of this entire project. Meeting families, talking to researchers and healthcare professionals, making new friends and trying activities I had never experienced before remind me that living with a rare condition doesn't mean facing life alone. But one thing I always remember is the feeling of belonging. That is something this community gives people. If there is one message I hope listeners take away from this series, it is this. Behind every diagnosis is a person, a family, a story, a future, and every one of those stories deserves to be heard. Before we finish the series, I asked members of the Elsom community one final question. What message would you like to leave for people listening? How can we raise awareness of Elston syndrome? What gives you hope for the future? And lastly, how can people support Alstom Syndrome UK?

SPEAKER_10 19:57

Hello, my name is Vicky. I got diagnosed with Alstom Syndrome in 2006. What I really enjoyed and loved in this podcast, learning from others about Arlstrom Syndrome. It was a great opportunity to hear different perspectives, different thoughts, which is very helpful for me to understand Arlstrom syndrome. It is a big challenge, but what I really loved in this podcast was being open about the condition and explaining how it works, how it can affect your physical, mental health, and that it's important to take care of your health. I kind of knew that already, but I still had learned a lot from this podcast. I don't think there was much that I did not like. I'd like to say it would be great if there would be more awareness about Alstom syndrome. Sometimes I feel that medical specialists that they don't even listen to my problems or to my challenges because of Arstom syndrome. It is understanding they don't have the knowledge and they do not have the tools to search it or not familiar with it. But it would be nice if doctors or medical experts would be more open and listen to my challenges. Also, I'd like to say that it would be great that I would love to do is support others who have Arsenal syndrome, listen to them, have a chat just like a basic normal chat to help one another. I think when we talk in the same kind of challenge or situation, we can learn a lot from one another. What I would love to do in the future is take part in some projects and events with Alston syndrome to be connected and keep education. Educating myself about it. My big goals are to allow my Arston syndrome to be in good condition, to be on top of it, to understand that more. I am studying computer science. I am in second year. So I hope to finish my degree and get a good job to be a software engineer. I do have a great passion called Judah, and I hope to achieve a great journey in my Judo career and to be in the Judo history one day. I know this condition can be challenging, but I try to stay positive and strong, even though some days I feel sad and lonely because I can't really connect with people, which connections with people is important, and I would love to be able to meet with others who have Arstom syndrome. And I'd like to say, even though some days are challenging and hard, I still try and take the day in a positive way and take the good energy, not the bad energy. I wish everyone all the best and keep fighting like I try to fight to be happy. All the best.

SPEAKER_02 23:16

I think it would be for there to be greater awareness and of the condition and to also have more recognition worldwide because Allstrom UK is such a small community at the moment. I think having more global awareness for the condition would be brilliant. I think there's a number of great organizations out there, like Oldstrom Syndrome International, Oldstrom Syndrome UK, Oldstrom Syndrome Europe, a new emerging organization, Oldstrom Syndrome Australia. So where we have patients is really being recognised uh globally. And I think, and I'm sure that all doctors and clinicians with expertise of Oldstrom syndrome are all pooling their resources together. But I think it would be a way that all the clinicians with the with the greatest experience of Oldstrom syndrome can pull their knowledge. And the expertise that we certainly have here in the UK kind of shared on a global platform. I think it's kind of developing awareness about the syndrome. I think it it'd be really hard to have a map of what Oldstrom syndrome looks like because it's so different for each and every person. But I think having some sort of Ulstrom markers, what people with this syndrome can expect, what looks healthy for a person with Olstrom syndrome, would be really useful. And I think globally some mental health and emotional support for all our families because it's such a complex journey. And I think the the more support people have to navigate that, the better. What can the public do to raise awareness about Ulstrom syndrome? I think it's a difficult one because unless you're impacted by it, so if you have it or you have a family member with it, or a friend or someone you work with has it, and you've got experience of it that way, I think it it's probably one of those syndromes that that people haven't heard about. So maybe it's about having a piece in like a big media outlet, like a newspaper or covered by media. I think from what I've seen, like Ulstrom UK does a great job at putting things out on social media. So they have like a Facebook page and a TikTok channel, and we put videos up on YouTube and things like that. And I think that's a great way of raising awareness. And I think it's, I suppose you could call them Ulstrom allies. I suppose it's about Ulstrom allies sharing information and updates so other people in society can can start learning about the condition. And again, how can we support Ulstrom UK, the charity and the oldstrom community? Again, I think it's about allies sharing posts, sharing those updates, getting getting Oldstrom syndrome more widely known. It is a rare genetic condition, but I think it's about raising Oldstrom's profile, maybe getting the public to be more aware of of what the symptoms of Oldstrom syndrome are. And I suppose it's ways of getting more people tested for the syndrome and looking at at doing that over time so we can build up a larger community.

SPEAKER_04 26:32

Hello, my name is Jamie Seeger, and I am 47 years old and have Alstrom syndrome. I live across the pond, as the Brits would say it, in Pennsylvania, about an hour outside the city of Philadelphia. I have gone to university and graduated with a degree in political science with honors and have taught other and defined individual computer skills and braille, which has worked into becoming certified as a braille proofreader, proofreading books for the National Library service for the blind and print disabled for three individual Brown producing companies here in the United States. One thing I would like to say is we are resilient. But what helps me the most is playing the piano and I would advise if families or anyone out there suffering from a condition, find something you love and do it so you can rebound from the down times. In the future, I hope that we can find more breakthroughs so people don't have to suffer with much of the disease or even a cure. Also, I hope things can become more accessible for not only the vibe but also the deathbed. I like to say some lyrics from a song written by Anthony Fedorov, season four finalists of American Idol. When days grow long, when nights grow longer, all sea lost, there's always hope. It's never over.

SPEAKER_07 29:23

Thank you. I think when they listened through the podcast, you probably heard a range of different opinions and different views from across the board, from the clinicians, from the research, from people live with Alstrom syndrome. And I think the most important message that I would give with the podcast is that it doesn't matter what of difficulty or challenge you're facing, whether it's big or small. It you know it's easier said than done. But it is just to keep on going, be resilient, and you know, don't let your challenges stop you and what you want to achieve, because you have so much great potential. And a strong community is what all spam have. And that's something that can really benefit you, you know, if you are struggling with anything. A lot of it is about word of mouth, talking to people, whether that's through events, whether that's through the podcast, the website, social media, uh referring to people, uh any other sort of organizations, getting in touch, creating partnerships. Whether that's locally or nationally or even internationally, in a collaboration, it goes a long way. I can really sort of make a difference with the information that's raised about Alstrum and other conditions. My personal hopes and goals for the future is that I see a lot of people with visual impairments or different disabilities. They face a lot of challenges and I want to be involved in work that can be that can make a valuable contribution and that can help sort of make those barriers less for people with different conditions or with ulstrom. I want to be able to participate in different training and research programs and sort of work with different groups to help, whether that's eye health, which is quite important for a lot of people with ulstrum, whether there's any treatment that I can be involved in making a positive impact for people with the vision loss, whether it's heart difficulties, those aspects. People can support Oldstrom Syndrome UK through the community work that we do, whether that's through breaking down barriers, helping us find other organizations to partner with, uh, whether that's helping us build and connect with communities across the globe internationally. We can build on our partnerships already that we have, whether it's participating in the board of trustees, because they have a very uh diverse skill set uh of people that are working on research and providing services to Oldstrom Syndrome in the UK and other sort of panels, you know, there's Equality, Diversity, Inclusion Panel, there's young children's diabetes panels. So there's there's lots of different ways, you know, whether it's fun helping ASUK with fundraising, donations, you know, there's so many different ways you can get involved to support um the work of ASUK.

SPEAKER_01 32:54

Listening to everyone's conversation throughout this series has reminded me that awareness begins with listening. The more we listen to one another, the better we understand each other's experiences. I hope this podcast has helped people living with Also syndrome feel unseen. I hope families feel less alone. I hope healthcare professionals have gained a deeper understanding of what life is really like beyond the clinic. And I hope anyone who don't know about Also's syndrome before listening now understand why raising awareness matters. Thank you so much for joining me throughout Living with Alson stories, challenges and hope. To everyone who shared their experiences, thank you for trusting me with your stories. To everyone who listened, thank you for taking the time to learn more about Also Syndrome. If you would like to support Elstom community or learning more about their condition, please visit Alstom Syndrome UK or speak with your healthcare team. Also, this is the end of this podcast series. I hope it is only the beginning of more conversation, great understanding, and increased awareness. This series has been created with honesty, hope, and the belief that every story deserves to be heard. Thank you for listening.