The Rare Disease Podcast
3.5 million people in the UK live with a rare disease, so while each disease is individually rare, together rare diseases are common. Hear interviews with patients, clinicians, advocates, students and researchers focusing on rare disease in clinical medicine. This podcast is brought to you by Medics for Rare Disease. Podcast distributors create their own transcripts and M4RD doesn’t take responsibility for them
Light in the Silence: A review of the documentary 'It's not yet dark'
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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...
The GP with MG: Experiences as a Doctor with Myasthenia gravis with Dr Hannah Brew
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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.
M4R...
I found out I was intersex as an adult - Special guest episode with Lexi
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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.
New look, New Era: NHS England moves and rare disease moments
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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...
How YOU can get involved with Rare Disease Day 2025!
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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...
Looking back, Moving Forward: The Medics for Rare Disease highlights of 2024
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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...
Why you should read 'Two for Joy' - the true story of one families journey to happiness with severely disabled twins
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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...
Bombardier Blood: The man with Haemophilia who climbed the seven summits!
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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...
Rare Disease Needs YOU! Want to know why? Listen to find out...
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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...
"Celine Dion spoke candidly and openly about Stiff Person Syndrome, but no-one picked up on that"
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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.
<...
What misconceptions are there about rare disease?
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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.<...
The shocking parallels between Flowers for Algernon and those living with rare diseases
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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...
“That's not a Black disease” - Malone Mukwende talks about stigma and exclusion
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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...
How guidelines have the potential to confuse people, and why!
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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...
Mental health and victim blaming at work
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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...
She said I had Becker Muscular Dystrophy - it was like a grenade going off
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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...
"I want the world to be kind to James" our thoughts on the new Colin Farrell interview
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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...
'I am: Celine Dion' - how relatable (and unrelatable) is it?
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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.
...
Blind skiing and expressive art
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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...
Will we need a Paralympic Games in the future?
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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...
How do you grow as a rare disease charity?
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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...
Psychosocial Care - Enhancing Medical Care to be Psychologically Informed
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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...
Let's talk medical communications! with Emotive
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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...
Rare Disease 101 with Lucy McKay from the RSM 2024
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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.<...
Think Ammonia with Metabolic Support UK
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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...
M4RD x Big Bang Theory with our Patient Ambassador Daval
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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...
Words Matter with Jono Lancaster from The Unusual Suspects 2024
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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...
My son with PTEN with Kelly Kearley from PTEN UKI
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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...
Think Rare, Think Genetics with Bonnie Jackson
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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...
Baroness Nicola Blackwood on Politics and Patient Care
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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...
Special Episode: Hope Russell-Winter from The Voice UK
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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.
How a medical student saved my life and my experience of Addison's Disease with Corrinne Hepworth
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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...
What exactly is Newborn Screening?
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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...
The Rare Youth Monologues - USA Edition
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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...
What's it like working for a rare disease charity? with Rick Thompson
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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...
MPS Hunter Syndrome with Daniella Vandepeer
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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...
ALK-Positive Lung Cancer and Me with Debra Montague
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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...
Young-Onset Parkinson's - a laughing matter?
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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...
Melbourne to Manchester - a clinical trial story
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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...
In the shoes of a Clinical Nurse Specialist with Tanya Gill
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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...
