The Rare Disease Podcast

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, &apos...

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 act...

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 For...

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 curi...

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 receive...

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...

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...

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...

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 inve...

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 i...

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 possibl...

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...

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 doe...

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 accep...

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-winn...

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 op...

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...

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...

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 pai...

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 an...

Let us know what you think of this episode! We read every comment we receive. For this week's episode of the podcast, Lucy and our ambassador Maddy speak to the author James Melville Ross all about his book 'Two for Joy'. 'Two for Joy' is the heart-warming true story of disabled twins Thomas and Alice, and their desperate fight for life after being born four months prematu...

Let us know what you think of this episode! We read every comment we receive. For this week's episode of the podcast, Lucy reviews the documentary Bombardier Blood with our trustee Dan and our ambassador Emily. Bombardier Blood is all about a man called Chris Bombardier who is on a mission to become the first person with severe haemophilia to climb the Seven Summits, the highest mountain on e...

Let us know what you think of this episode! We read every comment we receive. For this week's episode of the podcast, we need YOU to listen to find out why you should take part in a very important survey! Lucy and Emma will be discussing The Rare Disease Quality Statements Survey. The aim of the survey is to develop a set of quality statements for what good care looks like in rare diseases. T...

Let us know what you think of this episode! We read every comment we receive. For this week's episode of the podcast, Helen our training programme manager takes over as host to speak with Mariette Kono, who is a medically retired occupational therapist who lives with Stiff Person Syndrome. Mariette talks all about her experiences about being diagnosed from the perspective of someone with a he...

Let us know what you think of this episode! We read every comment we receive. This week's episode of the podcast is a slightly shorter one, and this time, Lucy is the guest along with Dr Agatha, one of M4RD's ambassador's and a recent graduate from the University of Glasgow as well as being an academic foundation doctor in Newcastle. They are both being interviewed by Y2 medical stu...