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3.5 million people in the UK live with a rare disease, so while each disease is individually rare, together rare diseases are common. Hear interviews with patients, clinicians, advocates, students and researchers focusing on rare disease in clinical medicine.
This podcast is brought to you by Medics for Rare Disease. Podcast distributors create their own transcripts and M4RD doesn’t take responsibility for them
93 Episodes
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Let us know what you think of this episode! We read every comment we receive. In this episode, we hear from the brilliant Dr. Lisa Kaufman, a Consultant Community Paediatrician, Associate Medical Director, and Communication Skills Trainer with Manchester Local Care Organisation (yes, she wears many hats!). Lisa shared her insights during her talk at our last unusual suspects event. The talk, 'Core Communication Skills' unpacks what it really means to listen well, how we can improve unde...
Let us know what you think of this episode! We read every comment we receive. For today's episode of the podcast Lucy speaks with Charlotte Chapman Hart, who has just completed her first year of her two year ambassador program with us. Charlotte also works as a project manager for an NHS trust and recently won the individual of the year award which recognises an individual who skills and actions have gone above and beyond to deliver excellence in their roles and, and really contribute ...
Let us know what you think of this episode! We read every comment we receive. For today's episode of the podcast, Lucy chats to Beth and Katie about a recent report that was published between the Youth Forum and the charity Barnardos called the Healthcare Transition Report 2024 to 2025. Beth and Katie are both part of the Youth forum and they tell Lucy what it's all about. The Youth Forum will soon be called the 'NHS Young Researchers.' and will consist of a group of young people aged 1...
Let us know what you think of this episode! We read every comment we receive. In this episode, Lucy sits down with Dr Claire Ashley, author of The Burnout Doctor, to explore what burnout really means, why it happens, and how we can begin to heal from it. Claire shares her personal journey of recovery and the inspiration behind her book. Whether you’re feeling overwhelmed, exhausted, or just curious about how to protect your mental health, this is a conversation you won’t want to miss. Y...
Let us know what you think of this episode! We read every comment we receive. For this episode of the podcast Lucy speaks with our new Research Project Manager Megan all about the RDI Lancet Commission on rare disease. Views, ideas and opinions expressed in this podcast are personal to the individual and Medics4RareDiseases does not accept responsibility for those expressed by guests. M4RD receives funding from commercial companies which it works independently from. M4RD's Partners and Funde...
Let us know what you think of this episode! We read every comment we receive. For this week's episode of the podcast, Lucy talks all about the Role of PAG's in New Born Screening which includes a talk that includes all of the ways that patient advocacy groups have been involved in the UK and globally. Views, ideas and opinions expressed in this podcast are personal to the individual and Medics4RareDiseases does not accept responsibility for those expressed by guests. M4RD receives funding fr...
Let us know what you think of this episode! We read every comment we receive. For this week's episode of the podcast, Lucy chats to Abbie and her Father Steve. Whilst at primary school, Abbie was diagnosed with a very rare brain tumour during the COVID pandemic. Abbie shares her experiences along with Steve about her tumour. Views, ideas and opinions expressed in this podcast are personal to the individual and Medics4RareDiseases does not accept responsibility for those expressed by guests. ...
Let us know what you think of this episode! We read every comment we receive. For this episode of The Rare Disease Podcast for Medics, we're sharing a powerful presentation delivered by Lucy at the SOFT UK conference. Lucy introduces the work of Medics for Rare Disease and explores how healthcare professionals can make a real difference to people living with rare conditions. She discusses the importance of embedding rare disease education into medical training, the need for timely and accurat...
Let us know what you think of this episode! We read every comment we receive. *Please be aware that this episode contains conversations about child loss.* For this week's episode of the podcast, Lucy chats with Nikki Speed from SUDC UK. SUDC UK are a national charity for Sudden Unexplained Death in Childhood, which is a rare category of death which remains unexplained despite a thorough investigation. They help raise awareness of SUDC and help support families affected by it. To find ou...
Let us know what you think of this episode! We read every comment we receive. For this week's episode of the podcast, Lucy speaks to Elle Daniel who is waiting to be the donor of some of her liver to her daughter who is 19 months old. Elle's daughter has a very rare version of a rare condition called Congenital Disorders of Glycosylation (CDG). To find out more about Go Rare, mentioned in the podcast, go to https://www.goraredisease.org You can find out more about CDG here https://cdg-uk.org/...
Let us know what you think of this episode! We read every comment we receive. For this week's episode of the podcast Lucy chats to Isobel, Philandra and Vicki who are from the GMSA (Genomics Medicine Service Alliance). They are putting on a fantastic online event alongside the University Hospital Birmingham all about genomics in primary care and would love as many of you to sign up as possible! Lucy our host of the podcast will also be speaking at the event which takes place on the 12th of Ju...
Let us know what you think of this episode! We read every comment we receive. For this week's episode of the podcast Lucy shares how iconic RuPaul quotes straight from his book have helped guide her through life both inside and outside of the medical world. Views, ideas and opinions expressed in this podcast are personal to the individual and Medics4RareDiseases does not accept responsibility for those expressed by guests. M4RD receives funding from commercial companies which it works indepe...
Let us know what you think of this episode! We read every comment we receive. For this week's episode of the podcast, Lucy chats to one of our new trustees Sheela Upadhyaya. Sheela is also a rare disease expert and life sciences consultant with over 25 years of healthcare experience. Views, ideas and opinions expressed in this podcast are personal to the individual and Medics4RareDiseases does not accept responsibility for those expressed by guests. M4RD receives funding from commercial comp...
Let us know what you think of this episode! We read every comment we receive. For this week's episode of the podcast, Lucy chats to our new trustee Emma Macleod all about her new role and the new project they are doing on behalf of the Department of Health and Social Care. Views, ideas and opinions expressed in this podcast are personal to the individual and Medics4RareDiseases does not accept responsibility for those expressed by guests. M4RD receives funding from commercial companies which...
Let us know what you think of this episode! We read every comment we receive. For this week's episode of the podcast, Lucy has Emily back on to chat about the documentary 'It's Not Yet Dark'. 'It's Not Yet Dark' is about the story of Simon Fitzmaurice, a young filmmaker who becomes completely paralysed from Motor Neuron disease but goes on to direct an award-winning feature film through the use of his eyes. The documentary is available to watch on Apple TV and Amazon Prime. Views, ideas and o...
Let us know what you think of this episode! We read every comment we receive. For this week's episode of the podcast, Lucy speaks with Dr Hannah Brew who is a Portfolio GP. Hannah speaks about all the many things she does that are hugely valuable to the NHS and health. Hannah also lives with Myasthenia gravis which is a chronic autoimmune disorder causing muscle weakness. Views, ideas and opinions expressed in this podcast are personal to the individual and Medics4RareDiseases does not ...
Let us know what you think of this episode! We read every comment we receive. Lexi Breen found out that she was intersex when she was an adult. Lexi has a condition that means she has three sex chromosomes (XXY) which causes many different health problems, in addition to variations of sexual characteristics. In this episode she shares her experiences of living with gender incongruence - a mismatch between a person's internal sense of gender and the sex they were assigned at birth. And how she...
Let us know what you think of this episode! We read every comment we receive. Welcome back to the Rare Disease Podcast! We can't believe we're now on Season 8! For the first episode of the new season, Lucy covers our new branding, how Rare Disease Day went for the Medics for Rare Disease team and the recent news about NHS England. Views, ideas and opinions expressed in this podcast are personal to the individual and Medics4RareDiseases does not accept responsibility for those expr...
Let us know what you think of this episode! We read every comment we receive. Before we jump in to a new season of the podcast, we have a special episode with Emma and Lucy which covers all the ways you can get involved with Rare Disease Day 2025! Every year for Rare Disease Day, Medics For Rare Disease run our own #ShowYourStripes campaign where you can raise awareness by putting on your best pair of stripey socks and sharing them on social media tagging @MedicsForRare with the hashtag #Sho...
Let us know what you think of this episode! We read every comment we receive. For this week's episode of the podcast, Lucy invites the M4RD team on with her to discuss this year's highlights for the charity and the exciting plans we have for 2025! We would like to take the opportunity to say a massive thank you to all of our listeners. Our podcast has grown so much over this past year and it's only because of you! From everyone at M4RD, we wish you a very Merry Christmas and a Happy New Year...
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