Shows
The Rare Disease PodcastNot Just Words: Dr. Lisa Kaufman on Core Communication from the RSMLet 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 understanding across roles, and why simple communication habits can make all the difference in complex healthcare settings.
2025-08-1434 minThe Rare Disease PodcastAmbassadors for a Reason: What Medics for Rare Disease Gets RightLet 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 meaningfully.Views, ideas and opinions expressed in this p...
2025-08-071h 06The Rare Disease PodcastIs the NHS Listening to Its Young Patients?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 16 to 25 who work with NHS England to m...
2025-07-3147 minThe Rare Disease PodcastWarning Signs You’re Burning Out! (And What to Do Next) with Dr Claire AshleyLet 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.You can buy Claire's book at WHSmi...
2025-07-241h 01The Rare Disease PodcastWhy Is Being Rare Still a Struggle for Justice?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 Funders do not accept responsibility for any views expressed in this podcast.
2025-07-1752 minThe Rare Disease PodcastHidden Clues at Birth: Are PAGS the Missing Link?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 from commercial companies which it works independently from...
2025-07-1049 minThe Rare Disease PodcastWe Thought It Was Just SeizuresLet 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.M4RD receives funding from commercial companies which it...
2025-07-0345 minThe Rare Disease PodcastWhy excellent care shouldn’t depend on how common a condition isLet 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 accurate diagnosis, and why excellent care shouldn’t depend on how common a condition is.
2025-06-2636 minThe Rare Disease PodcastWhat To Do When A Child Unexpectedly DiesLet 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 out more about SUDC UK, head to their website h...
2025-06-1946 minThe Rare Disease PodcastThe Organ My Baby Needs Is Inside MeLet 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.orgYou can find out more about CDG herehttps://cdg-uk.org/
2025-06-121h 03The Rare Disease PodcastGenomics in Primary Care: Why Your Role Matters More Than Ever!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 June, online.You can...
2025-06-0553 minThe Rare Disease PodcastCan I Get An Amen?! How Drag Race Quotes Became my MantraLet 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 independently from. M4RD's Partners and Funders do not accept responsibility for...
2025-05-2942 minThe Rare Disease PodcastWhy using the word "cure" isn't the way forwardLet 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 companies which it works independently from. M4RD's Partners and Funders do not...
2025-05-2250 minThe Rare Disease PodcastHow can the NHS better serve you?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 it works independently from. M4RD's Partners and...
2025-05-1543 minThe Rare Disease PodcastWhat does it mean to live fully, even when your body fails you? A review of 'It's not yet dark'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 opinions expressed in...
2025-05-0840 minThe Rare Disease PodcastExperiences as a GP with Myasthenia Gravis with Dr Hannah BrewLet 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 accept responsibility for those expressed by guests.M...
2025-05-0152 minThe Rare Disease PodcastI found out I was intersex as an adult - Special guest episode with LexiLet 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 felt when she "accidentally" find out she is in fact XXY.
2025-04-2444 minThe Rare Disease PodcastNew look, New Era: NHS England moves and rare disease momentsLet 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 expressed by guests.M4RD receives funding from co...
2025-04-1746 minThe Rare Disease PodcastHow YOU can get involved with Rare Disease Day 2025!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 #ShowYourStripes.To find all the...
2025-01-3122 minThe Rare Disease PodcastLooking back, Moving Forward: The Medics for Rare Disease highlights of 2024Let 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...
2024-12-2017 minThe Rare Disease PodcastWhy you should read 'Two for Joy' - the true story of one families journey to happiness with severely disabled twinsLet 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 babies - but also thrived.If...
2024-12-0558 minThe Rare Disease PodcastBombardier Blood: The man with Haemophilia who climbed the seven summits!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. If you would like to watch the f...
2024-11-2832 minThe Rare Disease PodcastRare Disease Needs YOU! Want to know why? Listen to find out...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...
2024-11-2232 minThe Rare Disease Podcast"Celine Dion spoke candidly and openly about Stiff Person Syndrome, but no-one picked up on that"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 individual and Medics4RareDiseases does not accept responsibility for those expressed by guests.
2024-11-1431 minThe Rare Disease PodcastWhat misconceptions are there about rare disease?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 raise awareness about rare diseases.
2024-11-0724 minThe Rare Disease PodcastThe shocking parallels between Flowers for Algernon and those living with rare diseasesLet 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 people with mental disabilities.Daval and Lucy...
2024-10-3132 minThe Rare Disease Podcast“That's not a Black disease” - Malone Mukwende talks about stigma and exclusionLet 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.Listen to what Malone had to say about his...
2024-10-2454 minThe Rare Disease PodcastHow guidelines have the potential to confuse people, and why!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 discuss what has already been changed and what could be...
2024-10-1735 minThe Rare Disease PodcastMental health and victim blaming at workLet 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 and victim blaming at work. To take part in the Rare Disease...
2024-10-1033 minThe Rare Disease PodcastShe said I had Becker Muscular Dystrophy - it was like a grenade going offLet 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 our ambassador Dr Beth Meek and singer/songwriter David Hick who were both recently featured with M4RD in The British Medical Association’s magazine ‘The Doctor’.You can listen to David’s track ‘The Light’ featuring his friend Jo Logue, who also has Becker MD, at the end of the podcast. Or to hear more from David, search ‘David & the Devil’ on Spotify.Read the full article discussed...
2024-10-0333 minThe Rare Disease Podcast"I want the world to be kind to James" our thoughts on the new Colin Farrell interviewLet us know what you think of this episode! We read every comment we receive.For this week's episode of the podcast, Lucy chats with Emma all about why Disneyland is more inclusive than society and Colin Farrell's recent interview where he talks about his son's rare condition Angelman Syndrome.Angelman Syndrome is a rare genetic condition that effects the nervous system and causes severe physical and learning disabilities.To find out more, visit https://www.angelmanuk.org/ and to watch the full interview with Colin Farrell, head to YouTube https://www.youtube...
2024-09-2640 minThe Rare Disease Podcast'I am: Celine Dion' - how relatable (and unrelatable) is it?Let us know what you think of this episode! We read every comment we receive.Celine Dion was diagnosed with Stiff Person Syndrome in 2020. Lucy chats with our trustee Dan Jeffries and our amabassador Emily Livesey to discuss their thoughts on her new docufilm and discuss how relatable (and unrelatable) Celine Dion's experiences are.You can watch 'I am: Celine Dion' on Amazon Prime.Views, ideas and opinions expressed in this podcast are personal to the individual and Medics4RareDiseases does not accept responsibility for those expressed by guests....
2024-09-2041 minThe Rare Disease PodcastBlind skiing and expressive artLet us know what you think of this episode! We read every comment we receive.For this week's episode of the podcast, Lucy speak's with Indy about skiing, art and disability. Indy is one the teachers at Stagecoach, who put on performing arts workshops for children.She lives with a condition called Oculofacialcardiodental Syndrome and is registered blind. Indy and Lucy discuss the therapeutic power of art as Indy shares how her degree in Creative Expressive Art helped her grieve the loss of her vision last year.Lucy was lucky to catch Indy...
2024-09-1234 minThe Rare Disease PodcastWill we need a Paralympic Games in the future?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 two-time Paralympian and M4RD ambassador Kim Daybell all about his thoughts on the Olympics, Paralympics and Disability in Society.Kim has a rare disease called Poland Syndrome and is also an ambassador for PIP UK.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...
2024-09-0550 minThe Rare Disease PodcastHow do you grow as a rare disease charity?Let us know what you think of this episode! We read every comment we receive.Welcome to the new season of The Rare Disease Podcast for Medics!We're on season 7 now, how did that happen?!For the first in the new series, our CEO Lucy and comms manager Emma chat about M4RD's upcoming plans for our Rare Disease Day sock campaign and reminisce over their time at medical school. Views, ideas and opinions expressed in this podcast are personal to the individual and Medics4RareDiseases does not accept responsibility for t...
2024-08-2932 minThe Rare Disease PodcastPsychosocial Care - Enhancing Medical Care to be Psychologically InformedLet us know what you think of this episode! We read every comment we receive.In anticipation of the 2024 ECRD conference in Brussels, our CEO Lucy McKay and CEO of RareMindsUK Kim Winter took part in this podcast to spark your curiosity and deepen your understanding of the topics that will be explored during their panel 'No Health Without Mental Health! Let's co-create a mentally healthy toolkit.'This week is European Mental Health Week and this session will start a co-creation process to develop a new Mentally Healthy Toolkit for the rare disease community...
2024-05-1335 minThe Rare Disease PodcastLet's talk medical communications! with EmotiveLet us know what you think of this episode! We read every comment we receive.For this week's podcast, our communications lead Emma Huskinson hosts a one-off episode with Emma Macleod and Charlotte Roe who work for our communications agency Emotive.They chat all about why they made the move to medical communications, what it means to be involved for them and what Emotive are here to do. If you would like to learn more about Emotive, visit their website. Views, ideas and opinions expressed in this podcast are personal to t...
2024-04-2532 minThe Rare Disease PodcastRare Disease 101 with Lucy McKay from the RSM 2024Let us know what you think of this episode! We read every comment we receive.3.5 million people in the UK live with a rare condition, which is a global point prevalence of 3.5 to 5.9%. In the UK that number equates to approximately the number of adults living with asthma.For this week's episode of the podcast we listen back to Lucy's Rare Disease 101 talk from the RSM in February 2024.Views, ideas and opinions expressed in this podcast are personal to the individual and Medics4RareDiseases does not accept responsibility for those expressed by guests.
2024-04-1834 minThe Rare Disease PodcastThink Ammonia with Metabolic Support UKLet 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 Jonathan Gibson who works as the Policy and Public Affairs Officer for Metabolic Support UK. His background is in genetics and global health and he’s also worked for the NHS within a busy biomedical science laboratory for over four years undertaking the analysis of samples to ensure you receive the right treatment and diagnosis.Within MS UK activist and key partner with...
2024-04-1159 minThe Rare Disease PodcastM4RD x Big Bang Theory with our Patient Ambassador DavalLet us know what you think of this episode! We read every comment we receive.For this week's episode of the podcast, Lucy is joined by Daval Amratlal, who is one of our patient ambassadors and has a rare skin condition called Autosomal Recessive Epidermolysis Bullosa Simplex. EBS is a rare skin condition where blistering is caused by trauma to the skin. Daval graduated in 2021 with a BSc in physics with space science and started an MSc in Planetary Science in September 2023 at UCL. With a passion for science communication, making science more accessible to t...
2024-04-0451 minThe Rare Disease PodcastWords Matter with Jono Lancaster from The Unusual Suspects 2024Let us know what you think of this episode! We read every comment we receive.It's been 10 years since Medics4RareDiseases first hosted The Unusual Suspects at The Royal Society of Medicine in association with the Medical Genetics section. It's amazing to see how far we have come over the years!This year, we had a varied line-up of speakers that gave thought provoking talks throughout the afternoon and one of them was public speaker and author Jono Lancaster, who has Treacher Collins Syndrome and recently sold out Waterstones Picadilly with his book 'Not All...
2024-03-2820 minThe Rare Disease PodcastMy son with PTEN with Kelly Kearley from PTEN UKILet us know what you think of this episode! We read every comment we receive.For this week's episode of the podcast, Lucy chats with Kelly Kearley who is the charity manager for PTEN UKI.Kelly's son Austin was diagnosed with P10 harmatoma tumour syndrome. Hamatoma Tumor Syndrome, or often shortened to P10, is a rare genetic condition. And it causes multiple cancers in adulthood and autism in childhood.You can find out more about PTEN UKI by visiting their website https://ptenuki.org/More information about Cerebra, also mentioned in t...
2024-03-211h 10The Rare Disease PodcastThink Rare, Think Genetics with Bonnie JacksonLet 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 Bonnie Jackson who is the London Regional Coordinator at Annabelle’s Challenge Vascular EDS Charity, who are the leading charity for Vascular Ehlers-Danlos syndrome in the UK.Her daughter Mia was diagnosed with Vascular EDS in August 2021 after 7 years. Mia is now 9 years old and in 18 months both her and the charity have raised over £62,000.00 for Vascular EDS research and support, with lots more events in the pip...
2024-03-1450 minThe Rare Disease PodcastBaroness Nicola Blackwood on Politics and Patient CareLet us know what you think of this episode! We read every comment we receive.Welcome to the brand new season of the The Rare Disease Podcast for Medics! To kick off the season, we have the wonderful Baroness Nicola Blackwood who speaks to us all about Ehlers-Danlos, patient care and her work in politics.Nicola is a leader in science and entrepreneurship. She is a member of the House of Lords and Chair of Genomics England and Oxford University Innovation. Nicola is also a board member of the biotechnology company BioNTech. Nicola s...
2024-03-0752 minThe Rare Disease PodcastSpecial Episode: Hope Russell-Winter from The Voice UKLet us know what you think of this episode! We read every comment we receive.This week's episode is a special one-off episode before the launch of Season 6 this March!Lucy speaks with our ambassador Hope Russell-Winter who was a recent runner up on The Voice UK! Hope tells us all about her experience with Multiple Endocrine Neoplasia type 1, her time on the Voice UK and why she is an ambassador for M4RD.Hope will be performing at The Social in London on March 7th, please visit her social media for tickets.
2024-01-261h 05The Rare Disease PodcastHow a medical student saved my life and my experience of Addison's Disease with Corrinne HepworthLet us know what you think of this episode! We read every comment we receive.For the last podcast episode of the season and the last episode Mel will be featuring on as a host - Mel spoke with Corrinne Hepworth who is an M4RD ambassador - who was also diagnosed with Addison's disease.Addison's Disease is a rare and life threatening form of adrenal insufficiency. Corrinne's diagnosis was due to a medical student that noticed symptoms on Corrinne's body -which stresses the importance of always being rare aware!Views, ideas and o...
2023-11-0945 minThe Rare Disease PodcastWhat exactly is Newborn Screening?Let us know what you think of this episode! We read every comment we receive.For this year's episode of the podcast Lucy speaks with a panel at this years Rare Summit all about The NHS Newborn Screening Programme - what is it and how is it evolving?Joining Lucy is Dr David Elliman, the Clinical Advisor for the Newborn Screening Commitee and the Blood Spot Task Group, Giles Lomax, CEO of SMA UK and Nick Mead, Director for Policy at Genetic Alliance.Views, ideas and opinions expressed in this podcast...
2023-10-3039 minThe Rare Disease PodcastThe Rare Youth Monologues - USA EditionLet us know what you think of this episode! We read every comment we receive.For this week's episode of the podcast, we hear from Courtney, Evan and Jessie as they give their Rare Youth Monologues with Lucy. Hear their inspiring stories and listen afterwards to a great discussion about the process with our host Lucy McKay.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 w...
2023-10-2554 minThe Rare Disease PodcastWhat's it like working for a rare disease charity? with Rick ThompsonLet 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 Rick Thompson who is the CEO of the charity Beacon for Rare Diseases.He was the charity's third member of staff until he was promoted in 2017 and has written articles, given talks and provided training across the European rare disease community.Beacon also works together with Medics4RareDiseases on the Student Voice Prize which is open for entries until November 15th 2023. Rick chats to Lucy about the history...
2023-10-111h 03The Rare Disease PodcastMPS Hunter Syndrome with Daniella VandepeerLet us know what you think of this episode! We read every comment we receive.For this week's episode of the podcast, we're joined by Daniella Vandepeer, who is a mother to Caleb who has a diagnosis of MPS II Hunter Syndrome. Daniella is also currently busy furthering her career and studying nursing and midwifery. She has a wealth of experience and expertise and has also previously worked in HIV advocacy and has served as a trustee for the MPS Society.Views, ideas and opinions expressed in this podcast are personal to...
2023-10-0530 minThe Rare Disease PodcastALK-Positive Lung Cancer and Me with Debra MontagueLet us know what you think of this episode! We read every comment we receive.For this episode of the podcast, Melissa spoke with Debra Montague, founder of the ALK Positive UK charity.Deborah is also a survivor of ALK Positive lung cancer and spoke with Melissa about the misconceptions surrounding it and her experiences.ALK Positive lung cancer is a rare lung cancer and the majority of people who are diagnosed with it are non-smokers. Half of them are also under the age of 50.Views, ideas and...
2023-09-2845 minThe Rare Disease PodcastYoung-Onset Parkinson's - a laughing matter?Let us know what you think of this episode! We read every comment we receive.You gotta fight for your right to PARKY!Phil is an amateur stand-up comedian from Birmingham who was diagnosed with Young Onset Parkinson’s Disease at the age of 36. Phil shares the lighter and more ridiculous parts of his condition through his comedy and regularly performs gigs around the country.Phil chats to Lucy about his diagnosis, what it's like to have Young-Onset Parkinson's and his passion for comedy.Views, ideas and opinions expressed in this po...
2023-09-2150 minThe Rare Disease PodcastMelbourne to Manchester - a clinical trial storyLet us know what you think of this episode! We read every comment we receive. Today's episode of the podcast is a special one as Lucy is joined by an old friend of hers, Xanthe Whittaker. Xanthe is a university lecturer and Mum to Jackson who passed away in May, 2014. They came into each other's lives when Lucy was a teenager through her son Jackson, who lived with a rare metabolic condition called MPS II or Hunter Syndrome. Xanthe and Jackson's story of how they came to be in the UK is extraordinary and really exemplifies the s...
2023-09-1452 minThe Rare Disease PodcastIn the shoes of a Clinical Nurse Specialist with Tanya GillLet us know what you think of this episode! We read every comment we receive.For this week's episode Lucy is speaking with Tanya Gill, who has just started a new role as a pediatric matron for surgical services at a hospital in London. However, her majority of experience has been as a clinical nurse specialist in a metabolic service for children. Tanya is passionate about breaking down the barriers in the medical world, so has a lot in common with Medics 4 Rare Diseases.We discover more about her experience over the years and w...
2023-09-071h 07The Rare Disease PodcastRareminds – Let's talk about mental health with Kym WinterLet us know what you think of this episode! We read every comment we receive.Melissa is joined by Kym Winters, the founder of charity organisation Rareminds and psychotherapist, to discuss the impact rare disease has on mental health and what support for mental health can look like for individuals, families and medics. Rareminds is a not-for-profit Community Interest Company (CIC) and the organisation has been providing online counselling, therapy and wellbeing services for rare disease charities since 2014. They do amazing work and they support professionals and patient leaders in making mental health integral to rare disease...
2023-05-0451 minThe Rare Disease PodcastDiamond-Blackfan Anemia with Angela CornwallLet us know what you think of this episode! We read every comment we receive.For this week's podcast, Melissa speaks with Angela Cornwall who is a parent carer for her daughter Natalie, who lives with a rare condition called Diamond-Blackfan Anemia. Angela has used her experiences and wealth of information to create solutions to not only help her own family, but as many people as possible.Diamond-Blackfan Anemia is a rare condition that primarily affects the bone marrow, but people with this condition can also have other physical abnormalities affecting various parts of the...
2023-04-2842 minThe Rare Disease PodcastThe importance of research in verbal dyspraxia care with Pam SlaterLet us know what you think of this episode! We read every comment we receive.For our next guest on the podcast, Melissa speaks to Pam Slater who is a devoted rare parent and verbal dyspraxia advocate.Pam became involved with the rare disease community because she has a daughter who was diagnosed with FOXP2 which is a condition that affects the development of speech and language.As Pam learnt more about the condition and how to support her, she also became more involved in raising awareness about the condition.Hear...
2023-04-2032 minThe Rare Disease PodcastFacial Differences and Finding Self-Love with Jono LancasterLet us know what you think of this episode! We read every comment we receive.For this week's guest, Lucy interviews Jono Lancaster, who is an author and public speaker who has a condition called Treacher Collins Syndrome. It is a rare congenital condition that causes facial bones to develop asymmetrically. Having struck up a relationship with Fearne Cotton, Jono has been featured on her Happy Place podcast, which has led to the idea to publish his own book, 'Not all Heroes Wear Capes' released later this year, all about finding self-love and accepting yourself.
2023-04-131h 09The Rare Disease PodcastMy Journey with Superficial SiderosisLet us know what you think of this episode! We read every comment we receive.For this week's episode of the podcast Lucy talks to Deborah Hatch who has Superficial Siderosis, which is a rare chronic progressive neurological dysfunction characterised by a classical triad of symptoms consisting of sensorineural hearing loss, cerebellar ataxia, and myelopathy.She had a deformity on her spinal cord and was operated on at the age of three and is still looking for answers about her condition now.Hear Debs' story and learn more about this very...
2023-04-111h 06The Rare Disease PodcastM4RD Returns to Barts for Together Caring for Rare DiseaseLet us know what you think of this episode! We read every comment we receive.A few months ago, Medics4RareDiseases partnered with Medscape Education, a global education website for medics, to produce a film with ITN. The programme, that was released on Rare Disease Day (28th February), focusing on the importance of rare disease education. It outlines M4RD and Medscape Education’s joint vision for a ‘one discipline’ approach to rare disease education, that is currently absent from most medical curriculums. Filming took place at Barts and The London School of Medicine and Dentistr...
2023-03-3043 minThe Rare Disease PodcastThe Rare Youth Monalogues at RareFest 2022Let us know what you think of this episode! We read every comment we receive.During Rare Fest 2022, Chelsea Wong, Katie Callaghan and Eddie Bartlett, presented three thought provoking monologues which highlighted their experiences living with a rare disease. Facilitated by Lucy McKay, we hear each of their stories and learn more about how they felt presenting and sharing their stories in front of a live audience. You can learn more about the festival via the website here https://www.camraredisease.orgViews, ideas and opinions expressed in this po...
2023-03-2344 minThe Rare Disease PodcastLiving with an Undiagnosed Condition with Tilly RoseLet us know what you think of this episode! We read every comment we receive.Our first guest for Season 4 of The Rare Disease Podcast for Medics is Tilly Rose, who studied English at Jesus College, Oxford. She started a free platform called that Oxford Girl and published a book of the same name, all centering on facilitating greater access to Oxford University.Tilly achieved all this while living with a chronic, undiagnosed condition, which turned out to be active tuberculosis. In 2022, through her social media activism, she documented her time in...
2023-03-161h 12The Rare Disease PodcastM4RD Beyond Borders – Rare Disease Awareness in ZimbabweLet us know what you think of this episode! We read every comment we receive.In this episode, Zimbabwean Medical Students dive deep into diseases that are rare and neglected in their communities. Listen as they share stories from individuals living with rare diseases and hope that through their lives we can all better understand these diseases and how it affects them. Their aim is that through their stories, we can better understand how we can help individuals socially, mentally, and economically. They are involved with Child and Youth Care Zimbabwe which are a registered Z...
2022-12-2028 minThe Rare Disease PodcastNot your usual Dermatologist - a DM with Dr BarlowLet us know what you think of this episode! We read every comment we receive.Lucy has a deep and meaningful with Dr Rich Barlow, Dermatology Registrar in the West Midlands and Chair of Trustees for Action for XP. Rich also lives with XP and shares his experiences living with the disease. From universal teenage angst to the incredible challenge of living everyday keeping himself shielded from any UV light. It's a good ol' heart to heart. People who have XP (xeroderma pigmentosum) must take extreme measures to protect their skin from ultraviolet (UV) light...
2022-12-151h 05The Rare Disease PodcastTAPS Twins - The patient the placenta and the passion for rareLet us know what you think of this episode! We read every comment we receive.This week Melissa speaks to Stephanie Ernst from the organization Taps Support, who has done an absolutely incredible job in getting medics to dare to think rare and to consider TAPS as a potential diagnosis in twin pregnancies. Listen how Melissa and Stephanie explore all things TAPS related and twin related and how parents and clinicians alike can work together to ensure quality care is upheld.Stephanie is a writer, speaker, and advocate for change in how monochorionic twin pregnancies...
2022-12-0554 minThe Rare Disease PodcastGive Blood Spread Love (Sickle Cell Part 2)Let us know what you think of this episode! We read every comment we receive.The second part of Lucy's interview with columnist and advocate, Dunstan Nicol-Wilson. The continue to discuss parallels between Dunstan's experiences and the findings of the No One's Listening Report. And also how Dunstan's column for Sickle Cell Disease News drove him into raising awareness for the Give Blood Spread Love campaign. Plus mush more!About Sickle Cell from The Sickle Cell SocietyGive Blood Spread Love donor registration formThe
2022-11-2843 minThe Rare Disease PodcastA brain tumour that isn’t a brain tumourLet us know what you think of this episode! We read every comment we receive.Melissa speaks with Ailsa Crowe, a content producer at Cavernoma Alliance UK. Ailsa has a symptomatic cavernoma in her right thalamus that cannot be operated on or removed. Ailsa knows first hand what it's like to be diagnosed with a rare disease and to have to work through the many challenges and obstacles that this brings. In this episode we explore when an individual is told that they have a rare condition such as a cavernoma, it can be a l...
2022-11-241h 06The Rare Disease PodcastHuntington's In MindLet us know what you think of this episode! We read every comment we receive.Lucy speaks to Professor Ed Wild, Consultant Neurologist at Queen's Square in London, and Associate Director of UCL Huntingtons Disease Centre. With a short cameo from Jordan at the Huntingtons Disease Association."It may be an incurable disease but it's not an untreatable disease""people living with HD can be helped in many, many ways but really all that is needed is to be there for them and to be willing to listen to what problems people are...
2022-11-1745 minThe Rare Disease PodcastListening to the Sickle Cell community Part 1Let us know what you think of this episode! We read every comment we receive.Dunstan Nicol-Wilson joins Lucy to discuss all things sickle cell and many things apparently unrelated.About Sickle Cell from The Sickle Cell SocietyThe ‘No One’s Listening’ report, which is based on the inquiry’s findings, was jointly published by the APPG on Sickle Cell and Thalassaemia and the Sickle Cell Society, a national charity that supports and represents people affected by sickle cell disorders. Findings discussed in this episode...
2022-11-0347 minThe Rare Disease PodcastEmbracing uncertainty when expecting a baby with a genetic conditionLet us know what you think of this episode! We read every comment we receive.**** Trigger warning: Baby loss *****Melissa is joined by Sonia Sankoli from SOFT UK - a support organisation for two chromosomal disorders: Trisomy 13 and Trisomy 18 (also known as Edward's Syndrome and Patau's Syndrome). One size doesn't fit all for families affected by these two conditions.LinksSOFT UK Healthcare Professionals Resources by SOFT UK Antenatal Results and Choices (ARC) is a charity th...
2022-10-2737 minThe Rare Disease PodcastDr Grace, brother Eddie, Addison's Disease and EDLet us know what you think of this episode! We read every comment we receive.Eddie was diagnosed with Addison's Disease during the pandemic, while his older sister was studying medicine. Dr Grace and Eddie join Lucy to talk about Addison's Disease and how a different approach is needed for young people with rare and invisible conditions. Thank you to our 2022 Partners: Alexion, Amicus Therapeutics, Biomarin, Bionical Emas, Healx, Kyowa Kirin, Orchard Therapeutics, PTC Therapeutics and Sobi.Medics4RareDiseases is a charity registered in England and Wales (1183996). The charity is financially...
2022-10-2058 minThe Rare Disease PodcastMedics in research, advocacy and winning prizes (Student Voice Prize 2022) ft Phil from Beacon and Meagan from CureGRINLet us know what you think of this episode! We read every comment we receive.Guest host alert! Phil from Beacon joins Lucy to discuss The Student Voice Prize (and so much more) with Meagan Collins, 2nd year medical student in Buffalo, USA. Meagan was runner up of The Student Voice Prize in 2021, winning in the research question category. The essay competition is OPEN NOW so find out why should enter. The Student Voice Prize - find the questions and submitBeacon for Rare Diseases (formerly known as Findacure) is a UK-based charity that i...
2022-10-131h 05The Rare Disease PodcastEpisode 0: What's coming up in season 3?Let us know what you think of this episode! We read every comment we receive.Lucy introduces the newest season of The Rare Disease Podcast 4 Medics with the help of Melissa. We give some teasers about interviews that will be coming to you this season including episodes about supportive care for newborns, mental wellbeing in sickle cell disease, misconceptions in Huntington's disease and a pair of siblings talking about Addison's disease.Thank you to our 2022 Partners: Alexion, Amicus Therapeutics, Biomarin, Bionical Emas, Healx, Kyowa Kirin, Orchard Therapeutics, PTC Therapeutics and Sobi....
2022-10-0623 minThe Rare Disease PodcastNot just hypermobilityLet us know what you think of this episode! We read every comment we receive.Vascular Ehlers Danlos Syndrome (Vascular EDS/VEDS) is just one of 13 sub-types of a group of connective tissue disorders called Ehlers Danlos. Due to a deficiency in collagen the walls of blood vessels are prone to dissection, rupture or aneurysm with potentially fatal consequences. However considering the serious complications of vascular EDS its presentation can be subtle and hard to spot. Clare, Jared and Dr Paddy Coughlin explain how patients with vascular EDS may present and what challenges they face. Trigger warning...
2022-05-1649 minThe Rare Disease PodcastClinical Trials and Early Access Programmes with Bionical EmasLet us know what you think of this episode! We read every comment we receive.This episode is brought to you by Bionical Emas and M4RD. Naomi from Bionical Emas talks about how her sister received an investigational medicine as a child and how this inspired Naomi to become a Clinical Research Nurse. She now works as Global Advocacy Lead for Bionical Emas - a Clinical Research Organisation (CRO) which combines Clinical Development, Early Access Program (EAP) and Clinical Trial Supply (CTS) services to deliver a unique, seamless approach to bring life-changing medicines around the world.
2022-05-1238 minThe Rare Disease PodcastWhat is a genetic counsellor? And some special guests!Let us know what you think of this episode! We read every comment we receive.Lucy and Melissa record live from emotive agency offices in London! Joined by two special guests, Jason and Kelly from the Chinese University of Hong Kong, who have taken a break in the medical studies to see how rare disease education and advocacy is approached in other countries.Part One: Melissa Clasen, Education and Training Officer for M4RD, talks about what a genetic counsellor does as well as who can access this service and how to make...
2022-05-0547 minThe Rare Disease PodcastParamedic to patientLet us know what you think of this episode! We read every comment we receive.Melissa from M4RD interviews Marie who was a healthy and active paramedic until one shift when she suddenly started experiencing pain in her left side (left upper quadrant pain). As a healthcare professional Marie knew likely causes for the sudden pain and knew how to treat it. However the wasn't musculoskeletal or costochondritis or even cholesystitis. It was in fact caused by compression of the duodenum by two arteries. A condition known as Superior Mesenteric Artery Syndrome (SMA - but not...
2022-04-2849 minThe Rare Disease PodcastThe Unusual Suspects Live Recording Part 2Let us know what you think of this episode! We read every comment we receive.This is Part 2 of a live recording of The Unusual Suspects: Rare disease in everyday medicine which was hosted by M4RD and The Medical Genetics Section of The Royal Society of Medicine in February 2022. The Royal Society of Medicine event page for The Unusual Suspects 2022In this second part you will hear about:The role of genomics in achieving health equityDr Denise Williams, Consultant Clinical Geneticist, Birmingham Women's and Children's NHS Foundation Trust
2022-04-211h 09The Rare Disease PodcastThe Unusual Suspects Live Recording Part 1Let us know what you think of this episode! We read every comment we receive.This is Part 1 of a live recording of The Unusual Suspects: Rare disease in everyday medicine which was hosted by M4RD and The Medical Genetics Section of The Royal Society of Medicine in February 2022.In this first part you will hear from Dr Lucy McKay on Rare Disease 101 and Aisha Seedat on The UK Rare Disease's Framework. Aisha lives with mucopolysaccharidosis type IV (Morquio Syndrome) and she reflects on what she would like to see from the Framework.
2022-04-1639 minThe Rare Disease PodcastLifelines in Leukodystrophy - a supportive GP and peer supportLet us know what you think of this episode! We read every comment we receive.Aged six Alexander developed a squint and hearing loss which didn't cause too much alarm until he started displaying strange behaviours akin to dementia such forgetting where his bedroom was. Despite concerns from Alex's parents, school and grandparents these symptoms were initially dismissed by the local GP. Sadly Alexander was not seen urgently for what would turn out to be a progressive condition that could only be mitigated by timely treatment with a bone marrow transplant.Aged six both Alex a...
2022-04-0758 minThe Rare Disease PodcastAssumptions, amputations and coordinated careLet us know what you think of this episode! We read every comment we receive.Lucy is joined by Helena Baker who was born with a congenital limb defect, worked as a nurse and is the outgoing CEO of Rare Disease Nurse Network.Helena was born with fibular hemimelia - a disorder of limb budding results in a congenital limb malformation characterized by complete or partial absence of the fibula bone combined with dysplasia and hypoplasia of the tibia and dysplasia, hypoplasia or aplasia of parts of the foot (Orphanet).Despite having 100s...
2022-03-3151 minThe Rare Disease PodcastNot your usual diabetesLet us know what you think of this episode! We read every comment we receive.Do you know what DIDMOAD stands for? Get your medical dictionary ready...diabetes insipidus, diabetes mellitus, optic atrophy and deafness aka Wolfram Syndrome. This week Lucy is joined by Abby who is a young person living with Wolfram Syndrome, Tracy whose daughter has WS leading her to found Wolfram Syndrome UK with her husband and finally prof Tim Barrett from Birmingham Women's and Children's Hospital who is a Children's Diabetes and Endocrine Consultant.We explore the issues of diagnosis, variability...
2022-03-241h 00The Rare Disease PodcastWelcome back!Let us know what you think of this episode! We read every comment we receive.Lucy welcomes you back to The Rare Disease Podcast 4 Medics for season 2! Yay! This episode explains what M4RD has been up to this year so far and some plans for the future.The Unusual Suspects: Rare disease in everyday medicine was on 9th Feb. Soon you will be able to catch up on all the talks via the M4RD Video Library. Make sure you're on our our mailing list so you don't miss out.The winner...
2022-03-1711 minThe Rare Disease PodcastEpisode 9: The Miller family on XP and Xmas (including a quiz!)Let us know what you think of this episode! We read every comment we receive.Eddison is almost 11 and lives with a rare genetics disorder called Xeroderma Pigmentosum. He and his brother talk about growing up in the rare disease community and how they manage to completely avoid the sun and other UV radiation in order to prevent irreversible damage to Eddison. Raife and I touch on "sibling status" and the rather unique position this puts you in. Nicola (Miller of Rare Revolution fame and also mum to these brilliant boys) also joins to give her perspective.
2021-12-1637 min
The Rare Disease PodcastEpisode 8: Dr Sondra Butterworth on InclusivityLet us know what you think of this episode! We read every comment we receive.Dr Sondra Butterworth is from a rare disease family, a carrier of a rare disease and her PhD focused on the quality of life and social support of people living with rare diseases. She talks to Lucy about what it's like to come from a poor, black, rare disease family in Cardiff and how she's turning both her personal and professional experiences into real change for rare disease communities. Sondra is the founder of RareQoL and the Whose Voice is it Anyway c...
2021-12-091h 01
The Rare Disease PodcastEpisode 7: Top tips for rare disease in GPLet us know what you think of this episode! We read every comment we receive.Lucy takes you through her top 11 tips for suspecting and managing rare disease in a primary care setting. If you're a GP this episode is for you and after listening you can find all the helpful links and more information in Rare Disease 101.Thank you to Dr Will Evans and Dr Gareth Baynam and the whole rare disease community who have contributed to or inspired this list over the years.Perhaps one day we can get some NICE...
2021-12-0232 min
The Rare Disease PodcastEpisode 6: Dr Shanali on identityLet us know what you think of this episode! We read every comment we receive.Dr Shanali Perera is a contemporary artist, educator, writer and retired clinician. She lives with a rare condition called vasculitis - a rheumatological condition that first presented when Shanali, herself, was training as a Rheumatologist.In this episode we discuss identity. How our different identities interplay with each other in different environments. How Shanali felt as a patient, rather than a doctor in her speciality and what he learned from this experience. How our identities are affected by illness and...
2021-11-2553 min
The Rare Disease PodcastEpisode 5: Diagnosed during an OSCELet us know what you think of this episode! We read every comment we receive.Dan Jeffries was born with a rare condition called Wyburn-Mason syndrome that has left him blind in one eye since birth. It was thanks to this condition he was invited to volunteer as a model patient for an Observed Structured Clinical Examination (OSCE) for ophthalmology trainees. Only one trainee correctly identified the aterio-venous malformation in his eye but all six diagnosed him with an entirely new condition....Dan is an author, musician and Head of Online Learning at a veterinary...
2021-11-1853 minThe Rare Disease PodcastEpisode 4: Growing up with an undiagnosed conditionLet us know what you think of this episode! We read every comment we receive.Sarah Lippett spent eleven years suffering with symptoms from an unknown condition, until she was diagnosed with the rare disease, Moyamoya, at the age of 17. In November 2019 she published her beautiful graphic memoir, A Puff of Smoke, which tells her story using the power of the sequential narrative. Here's a throwback to Lucy's interview with her ahead of the launch. Once you've finished listening watch the follow up video 'Living With It' about what life is like after diagnosis. Sarah s...
2021-11-1136 minThe Rare Disease PodcastEpisode 3: Doctors are patients tooLet us know what you think of this episode! We read every comment we receive.When Dr Genevieve noticed some problems with her grip and speech she put it down to stress. GP is a high pressured environment and like many doctors, she had a tendency to not worry too much about her own health. She was the first in her family to be diagnosed with myotonic dystrophy, a rare genetic condition, but she wasn't the last.In this interview with Dr Lucy McKay from Medics4RareDiseases, Dr Genevieve talks about her diagnosis and how...
2021-11-0437 minThe Rare Disease PodcastEpisode 2: The Student Voice Prize 2021Let us know what you think of this episode! We read every comment we receive.The Student Voice Prize is an annual, international essay competition that raises the profile of rare disease within the medical field, particularly with medical students, nurses and scientists who may have never come across considering rare disease as one field during their training.Findacure and Medics4RareDiseases host the competition together and the winner is published in The Orphanet Journal of Rare Diseases!In this episode Lucy from M4RD...
2021-10-2858 minThe Rare Disease PodcastEpisode 1: Not your usual heart attackLet us know what you think of this episode! We read every comment we receive.Today we will be exploring how people with classic heart attack symptoms are not being recognised as having heart attacks because they don't meet the usual patient profile. I will be joined by representatives from BeatSCAD, Karen and Sarah, plus Dr Adlam, Consultant Cardiologist to raise awareness of spontaneous coronary artery dissection (SCAD) and discuss how the unmet needs in this one condition are reflective of many in the rare disease community.Please note that this interview is for awareness...
2021-10-221h 07The Rare Disease PodcastEpisode 0: An Introduction to The Rare Disease Podcast 4 MedicsLet us know what you think of this episode! We read every comment we receive.Dr Lucy McKay, CEO of Medics4RareDisease, provides some background into the world of rare disease and some info one what you can expect from this podcast.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 Funders do not accept responsibility for any views expressed in...
2021-10-2112 min
SjukvårdspoddenSällsynta diagnoserAtt ställa diagnos kan vara en extra stor utmaning när vi pratar om ovanliga sjukdomar -där kunskapen är begränsad. Det finns över 7000 olika ovanliga diagnoser och mellan ca 2-500 000 personer i Sverige är drabbade. Lyssna till Maria Montefusco, ordförande för Riksförbundet för Sällsynta diagnoser & Thomas Sejersen, överläkare och professor vid Barnneurologen vid Karolinska Universitetssjukhuset i Solna. Ett internationellt perspektiv ger Dr Lucy McKay, vd Medics4RareDiseases i Storbritannien. Vidare ger Ann Nordgren, adjungerad professor i klinisk genetik, Karolinska institutet en spaning. God lyssning!
2020-12-2329 min