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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
84 Episodes
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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...
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 prematurely. James Melville-Ross, their father, tells of how the twins not only survived - despite being given the last rites as...
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 each continent. He has completed five of the climbs already, but the next faces the big one: Everest.&...
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. The survey is open to anyone who has a rare disease, is a family member or carer of someone with a r...
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 healthcare background. Views, ideas and opinions expressed in this podcast are personal to the individu...
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 students from The University of Glasgow all about how they both got involved in their work and how people can help...
Let us know what you think of this episode! We read every comment we receive. For this week's episode of the podcast Lucy welcomes back our ambassador Daval Amratlal to review the book Flowers for Algernon by Daniel Keyes. Algernon is a laboratory mouse who has undergone surgery to increase his intelligence. The story is told by a series of progress reports written by Charlie Gordon, the first human subject for the surgery, and it touches on ethical and moral themes such as the treatment of ...
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 Malone Mukwende who is the founder of the platform BlackandBrownSkin. After his arrival at medical school, Malone became acutely aware of the lack of clinical teaching provided about conditions as they appear on patients with darker skin. This lead him to write the handbook 'Mind the Gap', a clinical handbook of signs and symptoms in Black and Brown skin. L...
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 Grace Knight, who is one of our ambassadors working as a junior doctor and is back for her second podcast with us. She got involved with M4RD when her brother was diagnosed with a rare disease, which changed her perspective of diagnosis and patient experience. Lucy and Grace talk through the NICE (National Institute of Clinical Excellence) guidelines and disc...
Let us know what you think of this episode! We read every comment we receive. For this week's episode of the podcast, and to highlight Mental Health Awareness Day, our guest is Kym Winter, the CEO from Rareminds. Rareminds is the first specialist, non profit, rare disease counselling and psychotherapy service in the UK (and possibly globally). The team has been providing online counselling and wellbeing services for rare disease charities since 2014. Kym and Lucy chat about mental health an...
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