Explore every episode of the podcast 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, '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.

Whether you're a medical student, clinician, or just passionate about improving patient care, this episode will leave you reflecting on how you connect, speak, and really hear the people you work with.

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 meaningfully.

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 make sure that young voices are heard. 

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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.

You can buy Claire's book at WHSmiths, Waterstones or on Amazon.

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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. M4RD's Partners and Funders do not accept responsibility for any views expressed in this podcast. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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.

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 accurate diagnosis, and why excellent care shouldn’t depend on how common a condition is. 

You can learn more about Rare Diseases by taking our Rare Disease 101 module online now via https://learn.m4rd.org/

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 out more about SUDC UK, head to their website https://sudc.org.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 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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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/

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 sign up to the GMSA event here https://www.tickettailor.com/events/nhscentralandsouthgenomics/1676787

You can sign up to the recommendations workshop Lucy mentions at the start here: https://www.m4rd.org/event/recommendation-writing-workshop/

You can visit Central and South Genomics’ website here: https://centralsouthgenomics.nhs.uk/

Sign up to their mailing list here: https://mailchi.mp/a683c3c0bfe6/nhs-central-and-south-genomics-mailing-list

To view all their platforms, including their events, click here: https://linktr.ee/centralsouthgenomics

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 independently from. M4RD's Partners and Funders do not accept responsibility for any views expressed in this podcast. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 companies which it works independently from. M4RD's Partners and Funders do not accept responsibility for any views expressed in this podcast. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 Funders do not accept responsibility for any views expressed in this podcast. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 felt when she "accidentally" find out she is in fact XXY. 

Please note that this episode was recorded before the UK Supreme Court ruling on the meaning of 'sex' in the Equality Act of 2010. We hope to speak to Lexi again later in the season to discuss her thoughts on this ruling. 

To find out more about the organisations mentioned in the podcast, please head to the links below. If you would like to leave comments please be polite and respectful to the lived experiences of the people featured in this episode.

Interconnected UK

Klinefelter's Syndrome Association

Turner Syndrome Support Society 

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 campaign materials for Rare Disease Day 2025, just head to the link below where you will find everything you need to get going!

https://www.m4rd.org/rarediseaseday2025/

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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! 

We will be back for a few exclusive episodes in January 2025, with our new season officially starting in February 2025.

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 babies - but also thrived.

If you would like to read the book you can do so here https://www.awesomebooks.com/book/9781786060105/two-for-joy/used?gad_source=1&gbraid=0AAAAADocATC_xLpb1kozsBtATtfdVV_kN&gclid=CjwKCAiAmMC6BhA6EiwAdN5iLb0OIxe4YI-6LcGdqksxE86nl1RGJmynVelGqXqwD9GgZ2MX4qJDBRoCcrMQAvD_BwE

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 film, you can watch on Amazon or for free on YouTube.

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 rare disease, including charities and health professionals. Please bear in mind, the survey is to be completed by over 18s – if you are under 18, you must ask a parent or carer to complete the survey on your behalf.

To take part in the survey head to https://www.research.net/r/RPBN59Y now.

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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.

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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.

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 people with mental disabilities.

Daval and Lucy the parallels between the book and those living with rare diseases.

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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.

Listen to what Malone had to say about his journey so far and how he feels about his work being picked up by the likes of Sky News and the Washington Post.

To download 'Mind the Gap' visit the website here.

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 changed.

If you would like to listen to Grace's original episode, search 'Dr Grace, brother Eddie, Addison's Disease and ED'.

If you would like to download the handbook 'Mind the Gap - A handbook of clinical signs in Black and Brown skin', you can do so here https://www.blackandbrownskin.co.uk/mindthegap 

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 and victim blaming at work.

To take part in the Rare Disease and Mental Health module mentioned in the podcast, head to M4RD Learn.

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 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 in this episode here 

https://thedoctor.bma.org.uk/articles/health-society/finding-the-zebra/

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 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.com/watch?v=JDiD8Z3lWQk&t=74s

Read the GeNotes on Angelman Syndrome here https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/angelman-syndrome/

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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.

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

Let 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 before she headed to Whistler for a ski season with The Whistler Adaptive Ski and Snowboard Program. Indy will be training the trainers in assisting visually impaired skiers.

Listen out for the tiny voice of Lucy's daughter :)

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

Let 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, by exploring the existing best practices and tools that can be drawn on and scaled to form the basis for a new Toolkit. As well as providing concrete policy solutions that can support the implementation of the UN commitment into national healthcare systems.

Lucy will be speaking at the Opening Plenary at 8.30am (BST) and again for her mental health panel at 1pm (BST)

ECRD takes place between the 15-16th of May 2024. All tickets for the event are sold out in person, but you can buy tickets to watch online here - https://www.rare-diseases.eu/register/

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

Let 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 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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

Let 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.

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 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 communities to elicit change, utilising policy, data and research to develop creative campaigns with measurable goals to ensure action is taken to improve the lives of people living with inherited metabolic disorders.

If you would like to find out more about Metabolic Support UK, check out their website https://metabolicsupportuk.org/who-we-are/

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

Let 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 the general public, Daval has joined Medics for Rare Diseases as an ambassador to raise awareness of EBS, not just in the medical field, but also in the general public. Lucy and Daval discuss what happened to Pluto, best quotes from Jurassic Park and rare skin disorders.

Daval works with the charity, DEBRA UK, in an effort to improve the quality of life of not just patients with EB, but also people living with other rare conditions.

If you would like to learn more about DEBRA UK, you can visit their website here

https://www.debra.org.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 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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

Let 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 Heroes Wear Capes'.

Listen back to Jono's inspirational talk now.

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 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 this podcast can be found here https://cerebra.org.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 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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 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 pipeline. 

Bonnie shares her journey so far and how she has been supported by Annabelle's Challenge Vascular EDS Charity.

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

Let 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 served as Minister for Innovation in the Department of Health and Social Care under two prime ministers, where she led on life sciences, NHS data and digital transformation, and global health security.

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

Let 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.

https://www.instagram.com/hopewintermusic/?hl=en-gb

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

Let 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 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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

Let 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 works independently from. M4RD's Partners and Funders do not accept responsibility for any views expressed in this podcast. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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 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 behind Beacon, what its like working for a rare disease charity and what drives him to work for the charity.

You can find out more about Beacon by visiting their website at https://www.rarebeacon.org/

Find out more about The Student Voice Prize by visiting https://www.rarebeacon.org/student-voice-prizes/the-student-voice-prize-2023/

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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

Let 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 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. 

M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare