Dive into the complete episode list for The Rare Disease Podcast . Each episode is cataloged with detailed descriptions, making it easy to find and explore specific topics. Keep track of all episodes from your favorite podcast and never miss a moment of insightful content.
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 in Wolfram Syndrome, living with complex needs and an invisible condition as well as research in rare disease. We really packed it into this episode!
This activity is partially funded by: Alexion Therapeutics, Amicus Therapeutics UK Ltd, BioMarin, Bionical Emas, Healx, Kyowa Kirin and SOBI. Sponsorship does not equate to endorsement of any company or its products Go here to find out more about how M4RD works with sponsors. Companies have no editorial control over any of M4RD's activities or content of 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 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
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 of The Student Voice Prize 2021 was announced in February. Congratulations to the winner and runners up. Check out their essays here and if you didn't take part in this essay competition in 2021, 2022 can be your year. Check it out in October.
The Guardian Rare Disease Day pullout. Find M4RD and Medscape on page 8 'Rare disease education is key to enabling medics to achieve the best for their patients'. You can check out Medscape's Pathways in Rare Disease here.
Co-ordinated care for people affected by rare diseases: the CONCORD mixed-methods study published today!
And Lucy thanks M4RD's sponsors of their 2022 activities: Alexion Therapeutics, Amicus Therapeutics UK Ltd, BioMarin, Bionical Emas, Healx, Kyowa Kirin and SOBI. Sponsorship does not equate to endorsement of any company or its products Go here to find out more about how M4RD works with sponsors. Companies have not editorial control over any activities or content of 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 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
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 of operations and having a fairly classical presentation of this condition Helena did not know her diagnosis until aged 49.5 years. Despite the name of the condition not changing her management it meant a lot to her family to be able to understand that nobody was to blame for what Helena had endured her whole life. And not long after Helena had to come to terms with the requirement to amputate her "little foot".
In this episode Lucy and Helena talk openly about how an assumption of knowledge left her in the dark about her diagnosis, what it's like to say goodbye to your own limb and how coordination of care and better communication could make all the difference to people like Helena. Which is why she is passionate that RDNN become the Macmillan equivalent for rare disease.
Sponsorship Notice This podcast is brought to you by Medics4RareDiseases. M4RD receives sponsorship from commercial companies. In 2022 this includes:
Alexion Therapeutics, Amicus Therapeutics UK Ltd, BioMarin, Bionical Emas, Healx, Kyowa Kirin and SOBI.
These companies have no editorial control over this or any other M4RD content. Sponsorship does not equate to endorsement of companies or products. Views expressed during this podcast are personal and don't reflect those of M4RD sponsors.
Go here to find out more about how M4RD works with sponsors. Companies have no editorial control over any of M4RD's activities or content of 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 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
07 Apr 2022
Lifelines in Leukodystrophy - a supportive GP and peer support
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 and his twin brother, Cameron, were diagnosed with the devastating condition, cerebral leukodystrophy. This is an x-linked condition that they had inherited through their mum, Karen, who was 40 weeks pregnant with her third son at the time.
The following events are unimaginable for anyone who's not lived through it and, Karen says, looking back she also finds it hard to believe what happened. Karen and her husband were given Alexander's diagnosis on a Friday afternoon and received no support or follow up over the longest weekend of their lives. But their GP stepped up and literally turned up at their house to say he and his colleagues would be there for whatever they needed.
This one small act set the tone for a supportive relationship from then on, putting the diagnostic odyssey behind them, and looking to the future as a partnership in the family's holistic care. This plus peer support through Alex The Leukodystrophy Charity were lifelines and continue to be lifelines for Karen and her family.
Sponsorship Notice This podcast is brought to you by Medics4RareDiseases. M4RD receives sponsorship from commercial companies. In 2022 this includes:
Alexion Therapeutics, Amicus Therapeutics UK Ltd, BioMarin, Bionical Emas, Healx, Kyowa Kirin, Novartis, Orchard Therapeutics and SOBI.
These companies have no editorial control over this or any other M4RD content. Sponsorship does not equate to endorsement of companies or products. Views expressed during this podcast are personal and don't reflect those of M4RD sponsors.
Go here to find out more about how M4RD works with sponsors. Companies have no editorial control over any of M4RD's activities or content of 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 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
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.
M4RD was able to produce this event thanks to sponsorship by by Alexion Therapeutics and SOBI. Neither company has any editorial control over content and sponsorship does not equate to endorsement. Views expressed in this episode are personal and do not reflect those of the companies involved.
Declaration Dr Lucy McKay is on the Faculty Steering Committee for Medscape's Pathways for Rare Disease. She has received an honorarium in order to guide and develop this resource.
Sponsorship Notice This podcast is brought to you by Medics4RareDiseases. M4RD receives sponsorship from commercial companies. In 2022 this includes:
Alexion Therapeutics, Amicus Therapeutics UK Ltd, BioMarin, Bionical Emas, Healx, Kyowa Kirin, Orchard Therapeutics and SOBI.
These companies have no editorial control over this or any other M4RD content. Sponsorship does not equate to endorsement of companies or products. Views expressed during this podcast are personal and don't reflect those of M4RD sponsors.
Go here to find out more about how M4RD works with sponsors. Companies have no editorial control over any of M4RD's activities or content of 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 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
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 2022
In this second part you will hear about: The role of genomics in achieving health equity Dr Denise Williams, Consultant Clinical Geneticist, Birmingham Women's and Children's NHS Foundation Trust
Narrative based medicine and intersectionality Dr Sondra Butterworth, Community Psychologist, RareQoL Listen to Sondra talking about inclusivity in Season 1 of the podcast here The Whose Voice is it Anyway report that was produced by RareQoL , M4RD & NHS England.
Improving knowledge and understanding of rare disease: Lessons learned from an an unusual heart attack Dr David Adlam, Associate Professor of Acute and Interventional Cardiology, University of Leicester Listen to the episode featuring Dave and BeatSCAD called Not your usual heart attack here
Putting the ‘I’ in Intersectionality: the unspoken pandemic Miss Zainab Alani, Medical Student, University of Glasgow & The Student Voice Prize 2021 winner Learn more about Myasthenia Gravis through myaware and Orphanet
Sponsorship Notice M4RD was able to produce this event thanks to sponsorship by by Alexion Therapeutics and SOBI. Neither company has any editorial control over content and sponsorship does not equate to endorsement. Views expressed in this episode are personal and do not reflect those of the companies involved.
This podcast is brought to you by Medics4RareDiseases. M4RD receives sponsorship from commercial companies. In 2022 this includes:
Alexion Therapeutics, Amicus Therapeutics UK Ltd, BioMarin, Bionical Emas, Healx, Kyowa Kirin, Orchard Therapeutics and SOBI.
These companies have no editorial control over this or any other M4RD content. Sponsorship does not equate to endorsement of companies or products. Views expressed during this podcast are personal and don't reflect those of M4RD sponsors.
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
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 spinal muscular atrophy!!)
Marie talks about the pursuit of a diagnosis. What it did and didn't give her. How her mental health has been negatively impacted by the "rollercoaster" she has been on and how her family have been affected.
As an HCP herself, Marie is pragmatic about the challenges faced by her peers in the NHS and reflects on what she has learned from her own experiences. Which she uses in her role as Teaching Fellow in paramedic Practice at Oxford Brookes University. Find out more about the course here.
Renal Nutcracker Syndrome on Orphanet - a related compression syndrome of the left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta
Nicolette Baker suffered from SMA Syndrome for years causing her nausea and she was unable to eat. She went undiagnosed for years and was going for surgical treatment in Germany before she sadly died.
Sponsorship Notice This podcast is brought to you by Medics4RareDiseases. M4RD receives sponsorship from commercial companies. In 2022 this includes:
Alexion Therapeutics, Amicus Therapeutics UK Ltd, BioMarin, Bionical Emas, Healx, Kyowa Kirin, Orchard Therapeutics and SOBI.
These companies have no editorial control over this or any other M4RD content. Sponsorship does not equate to endorsement of companies or products. Views expressed during this podcast are personal and don't reflect those of M4RD sponsors.
Go here to find out more about how M4RD works with sponsors. Companies have no editorial control over any of M4RD's activities or content of 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 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
05 May 2022
What is a genetic counsellor? And some special guests!
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 that happen. Melissa trained in genetic counselling in South Africa and moved to the UK 4 years ago. Before joining M4RD, Melissa worked at Great Ormond Street Hospital in London. Part Two: Jason and Kelly introduce themselves, what they've been learning, what medical school is like in Hong Kong.
Sponsorship Notice This podcast is brought to you by Medics4RareDiseases. M4RD receives sponsorship from commercial companies. In 2022 this includes:
Alexion Therapeutics, Amicus Therapeutics UK Ltd, BioMarin, Bionical Emas, Healx, Kyowa Kirin, Orchard Therapeutics and SOBI.
These companies have no editorial control over this or any other M4RD content. Sponsorship does not equate to endorsement of companies or products. Views expressed during this podcast are personal and don't reflect those of M4RD sponsors. Novartis support M4RD's Mystery Monday.
Go here to find out more about how M4RD works with sponsors. Companies have no editorial control over any of M4RD's activities or content of 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 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
12 May 2022
Clinical Trials and Early Access Programmes with Bionical Emas
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.
Naomi co-authored a new mini-module on M4RD Learn about clinical trials and early access programmes and if you haven't checked it out already, you will want to after this podcast: learn.m4rd.org
Bionical Emas is a sponsor of M4RD in 2022 and this episode and the mini-module were funded by Bionical Emas.
To find out how M4RD works with sponsors please visit www.m4rd.org/sponsors
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
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 - descriptions of vascular events and bleeding.
And here endeth Season 2! Join us in September for the next Season!
Links Accompanying blog with images about vascular EDS. Annabelle’s Challenge aims to promote awareness and medical research into the rare, life-threatening and incurable genetic condition Vascular Ehlers-Danlos Syndrome (Vascular EDS). It was founded in 2013 by Jared and Sarah Griffin, after their daughter Annabelle was diagnosed with Vascular EDS at the age of 3.
Please watch this short video where you can see Jared and Sarah talk about Annabelle's diagnosis. As well as hear other families share their stories.
Ehlers Danlos Support UK (EDS UK) was set up in 1987 to support, advise and inform those living with the Ehlers-Danlos syndromes. The charity represents and supports people with all types of EDS.
Loeys-Dietz is another connective tissue disorder that Paddy mentioned. Loyes-Dietz also causes aneurysms as well as other features.
Von Willebrand Disorder (VWD) is a common misdiagnosis given to people with vascular EDS. VWD is a clotting disorder unlike vascular EDS which is a connective tissue disorder. People with VWD have low levels of a protein involved in blood clotting, von Willebrand Factor (VWF) in their blood, or their VWF is dysfunctional, so it takes longer for the clotting process to work and for bleeding to stop.
Sponsorship Notice This podcast is brought to you by Medics4RareDiseases. M4RD receives sponsorship from commercial companies. In 2022 this includes:
Alexion Therapeutics, Amicus Therapeutics UK Ltd, BioMarin, Bionical Emas, Healx, Kyowa Kirin, Orchard Therapeutics and SOBI.
These companies have no editorial control over this or any other M4RD content. Sponsorship does not equate to endorsement of companies or products. Views expressed during this podcast are personal and don't reflect those of
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
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 having, try to figure out what the cause of those problems might be and then try to figure out ways in which you can deal with the causes of their problems."
Links Huntington's Disease Association https://www.hda.org.uk/
Huntington's in Mind case studies https://www.hda.org.uk/huntingtonsinmind Resources for professionals https://www.hda.org.uk/professionals
National Genomic Test Directory If you ever want to see what genetic and genomic testing is available on the NHS and who can request it check this directory out https://www.england.nhs.uk/publication/national-genomic-test-directories/
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 supported by commercial partners. Some of these companies are pharmaceutical companies. The charity works independently from these companies who have no editorial control over this content or any of the charity's activities. Learn more.
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
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 long wait for further input from other specialists. Just because someone has received a diagnosis does not mean that the journey ends there and individuals may require frequent input and coordinated care depending on their unique situation. Primary healthcare providers can always be a point of support for their patients at all time points in the care pathway and should consider the long term impact of a diagnosis such as this.
Thank you so much Ailsa for your time and for sharing your story and your expertise to encourage all healthcare professionals to #DareToThinkRare
Links Cavernoma Alliance UK https://cavernoma.org.uk/
Care Guidelines by Cavernoma Alliance UK https://cavernoma.org.uk/professionals/
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 supported by commercial partners. Some of these companies are pharmaceutical companies. The charity works independently from these companies who have no editorial control over this content or any of the charity's activities. Learn more.
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
27 Oct 2022
Embracing uncertainty when expecting a baby with a genetic condition
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.
Antenatal Results and Choices (ARC) is a charity that provides non-directive information and support before, during and after antenatal screening. As well as training and support to help healthcare professionals to provide the best possible care to every parent who faces a suspected or diagnosed foetal anomaly.
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 supported by commercial partners. Some of these companies are pharmaceutical companies. The charity works independently from these companies who have no editorial control over this content or any of the charity's activities. Learn more.
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
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.
Medics4RareDiseases is a charity registered in England and Wales (1183996). The charity is financially supported by commercial partners. Some of these companies are pharmaceutical companies. The charity works independently from these companies who have no editorial control over this content or any of the charity's activities. Learn more.
The Student Voice Prize is open for submissions! Until 16th November. Check out the three questions now and if you need a patient advocate to speak to make sure you apply to patient group pairing scheme.
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
13 Oct 2022
Medics in research, advocacy and winning prizes (Student Voice Prize 2022) ft Phil from Beacon and Meagan from CureGRIN
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 submit Beacon for Rare Diseases (formerly known as Findacure) is a UK-based charity that is building a united rare disease community with patient groups at its heart. CureGRIN Foundation website Rare Disease 101 - learn the basics about 7000 rare diseases without learning about a single rare disease. Free. Authored by the rare disease community. For you. Genomics England's 100K Genomes Project
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 supported by commercial partners. Some of these companies are pharmaceutical companies. The charity works independently from these companies who have no editorial control over this content or any of the charity's activities. Learn more.
The Student Voice Prize is open for submissions! Until 16th November. Check out the three questions now and if you need a patient advocate to speak to make sure you apply to patient group pairing scheme.
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
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 supported by commercial partners. Some of these companies are pharmaceutical companies. The charity works independently from these companies who have no editorial control over this content or any of the charity's activities. Learn more.
The Student Voice Prize is open for submissions! Until 16th November. Check out the three questions now and if you need a patient advocate to speak to make sure you apply to patient group pairing scheme.
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
The ‘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 from the enquiry are taken directly from this report.
Sickle Cell Sagasby Dunstan Nicol-Wilson for Sickle Cell Disease News
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 supported by commercial partners. Some of these companies are pharmaceutical companies. The charity works independently from these companies who have no editorial control over this content or any of the charity's activities. Learn more.
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
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!
The ‘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 from the enquiry are taken directly from this report.
Sickle Cell Sagasby Dunstan Nicol-Wilson for Sickle Cell Disease News
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 supported by commercial partners. Some of these companies are pharmaceutical companies. The charity works independently from these companies who have no editorial control over this content or any of the charity's activities. Learn more.
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
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
05 Dec 2022
TAPS Twins - The patient the placenta and the passion for rare
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 are diagnosed and treated. As a founder of the TAPS Support Foundation, Stephanie’s passion is raising awareness about twin complications. Twin Anemia Polycythemia Sequence, or TAPS as it’s better known, is a rare disease affecting twins sharing a placenta. TAPS in twins has many complications, including a high chance of neurodevelopmental impairment in donor twins, as well as deafness. There is also the potential for death and injury to babies from TAPS that is not diagnosed before birth.
Thank you to Stephanie - an 'ervaringsdeskundige’ (expert by 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
15 Dec 2022
Not your usual Dermatologist - a DM with Dr Barlow
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. This includes anything that emits UV light, like the sun and some lightbulbs which can damage their skin.
Dr Rich and Lucy get into the nitty gritty of how the ubiquitous worries of life intersect with the extraordinary challenges of living with a rare condition.
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
20 Dec 2022
M4RD Beyond Borders – Rare Disease Awareness in Zimbabwe
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 Zimbabwean-based non-profit organisation focused on improving the quality of life of families living with a rare disease. To make this change possible they mobilise resources to support service delivery for people living with rare diseases. Check out their Rare Zim blog 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
16 Mar 2023
Living with an Undiagnosed Condition with Tilly Rose
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 hospital and shone the light on the reality of the diagnostic odyssey. Thanks to her sharing personal and raw details of her story, she's gained a following of over 50,000 people who now better understand this phenomenon that is the foundation of most rare disease journeys today.
Last year, she signed with the soho agency for her memoir ‘Be Patient’ a warm Darkly comic account of her lifetime behind the hospital curtain.
Tilly chats to Lucy about her rare disease journey so far.
Find Tilly Rose on instagram @thattillyrose
Or read her blog at https://www.thatoxfordgirl.com/
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
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.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
30 Mar 2023
M4RD Returns to Barts for Together Caring for Rare Disease
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 Dentistry, QMUL, where M4RD first started as a student society and features interviews with our very own Dr Lucy McKay, CEO of M4RD, and Christy Rohani-Montez, PhD, Medscape’s Education Global Director of Clinical Strategy. Dan Jeffries, M4RD Trustee, author (and proud owner of two rare conditions) also featured and provided invaluable patient perspective.
The film also includes an interview with Sir Professor Mark Caulfield, who heads up the Queen Mary University of London’s Medical School. Sir Professor Caulfield is a long-standing advocate of rare disease research and education and has supported M4RD right from the start.
On the day, Lucy interviewed Sir Professor Mark Caulfield, Dr Alexandra Downes and Dr. Melita Irving which are featured in this podcast, along with the audio recording of the ITN film, broadcast on Rare Disease Day 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
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 classicaltriad 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 rare condition.
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
13 Apr 2023
Facial Differences and Finding Self-Love with Jono Lancaster
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.
Through his work, Jono has been encouraging others to love themselves too by looking after their own mental health and is the co-founder of charity Love Me Love My Face, which supports those with Treacher Collins Syndrome and other craniofacial conditions.
Jono speaks to Lucy all about his experiences with Treacher Collins Syndrome and what he's learnt over the years.
Jono can also be contacted on his instagram @jonolanc
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
20 Apr 2023
The importance of research in verbal dyspraxia care with Pam Slater
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 what Pam had to say to Melissa in this week's podcast.
If you would like to access the resource mentioned in the podcast you can do so 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
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 body.
If you would like to find out more about Diamond-Blackfan Anemia you can find useful information here http://diamondblackfan.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
04 May 2023
Rareminds – Let's talk about mental health with Kym Winter
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 patient care.
In this episode we explore why mental health should be at the centre of patient care and how medics can open conversations on mental health, how to signpost and access further support an how medics can take care of their own mental health so that you can continue to offer great care and support in the clinic.
Find out more about Rareminds and what they do here: www.rareminds.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
07 Sep 2023
In the shoes of a Clinical Nurse Specialist with Tanya Gill
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 what expected of a Clinical Nurse Specialist.
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
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
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 strength and courage and tenacity of families who live with rare conditions.
This particular episode of the podcast is dedicated to the memories of Jackson Whitaker and Professor Ed Wraith. Both of them were unique and wonderful characters and inspired much of the work at Medics4RareDiseases.
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
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 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
28 Sep 2023
ALK-Positive Lung Cancer and Me with Debra Montague
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 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
11 Oct 2023
What's it like working for a rare disease charity? with Rick Thompson
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.
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
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
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
09 Nov 2023
How a medical student saved my life and my experience of Addison's Disease with Corrinne Hepworth
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
26 Jan 2024
Special Episode: Hope Russell-Winter from The Voice UK
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.
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
07 Mar 2024
Baroness Nicola Blackwood on Politics and Patient Care
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
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
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
28 Mar 2024
Words Matter with Jono Lancaster from The Unusual Suspects 2024
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
04 Apr 2024
M4RD x Big Bang Theory with our Patient Ambassador Daval
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
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
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.
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
18 Apr 2024
Rare Disease 101 with Lucy McKay from the RSM 2024
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
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
13 May 2024
Psychosocial Care - Enhancing Medical Care to be Psychologically Informed
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
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
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
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
20 Sep 2024
'I am: Celine Dion' - how relatable (and unrelatable) is it?
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.
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
26 Sep 2024
"I want the world to be kind to James" our thoughts on the new Colin Farrell interview
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.
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
03 Oct 2024
She said I had Becker Muscular Dystrophy - it was like a grenade going off
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
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
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
17 Oct 2024
How guidelines have the potential to confuse people, and why!
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'.
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
24 Oct 2024
“That's not a Black disease” - Malone Mukwende talks about stigma and exclusion
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
31 Oct 2024
The shocking parallels between Flowers for Algernon and those living with rare diseases
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
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
14 Nov 2024
"Celine Dion spoke candidly and openly about Stiff Person Syndrome, but no-one picked up on that"
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
22 Nov 2024
Rare Disease Needs YOU! Want to know why? Listen to find out...
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.
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
28 Nov 2024
Bombardier Blood: The man with Haemophilia who climbed the seven summits!
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
05 Dec 2024
Why you should read 'Two for Joy' - the true story of one families journey to happiness with severely disabled twins
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.
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
20 Dec 2024
Looking back, Moving Forward: The Medics for Rare Disease highlights of 2024
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
31 Jan 2025
How YOU can get involved with Rare Disease Day 2025!
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!
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
17 Apr 2025
New look, New Era: NHS England moves and rare disease moments
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
24 Apr 2025
I found out I was intersex as an adult - Special guest episode with Lexi
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.
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
21 Oct 2021
Episode 0: An Introduction to The Rare Disease Podcast 4 Medics
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 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
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 driving only. M4RD has commercial sponsors that have not editorial control over this or any of its activities. Find out more at www.m4rd.org/sponsors
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
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.
In this episode Lucy from M4RD and Philippa from Findacure talk to one of last year's winners - Caitlyn Taylor, 5th year medical student at The University of Edinburgh. We discuss why she entered, her essay and a recent remake of a Rembrandt painting she posed for...
The Student Voice Prize - submit your essay before 17th November! https://www.findacure.org.uk/student-voice-prize/
The Rembrandt painting - https://www.blog-lwinram.com/2020/09/23/edinburgh-seven/
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
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 it has impacted her as a patient and as a doctor.
She has learned a lot and we can all learn a lot from her.
This interview was recorded to mark the first ever International Myotonic Dystrophy Awareness Day. Learn more here: www.myotonic.org.uk
This interview is for driving awareness. It is not for formal education or medical consultation purposes. Find out more about the awareness raising efforts of M4RD, including who our commercial sponsors are at www.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
11 Nov 2021
Episode 4: Growing up with an undiagnosed condition
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 spoke to Lucy while shielding in her flat in Edinburgh during the first UK lockdown. She talks about the pandemic and her kidney disease relapse. https://www.youtube.com/watch?v=6m-vSThMtjk&t=1s
Sarah's website: http://www.crayonlegs.com/ When Lucy and Sarah were featured on Woman's Hour: https://www.bbc.co.uk/food/programmes/m000b4wh
Thank you Sarah for being interviewed and Kate Allnutt for doing the editing of my very first interview - Lucy xox
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
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 education company. He also has two rare conditions and is a Trustee for Medics4RareDiseases. Creator of Rare Disease 101 and generally very useful and great person to know.
Rare Disease 101: Everything you need to know about rare disease learn.m4rd.org
Me, Myself and Eye book: https://memyselfandeye.co.uk/
The Pituitary Foundation: https://www.pituitary.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
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 how the little ways we express ourselves help us hold on to who we are during turbulent times.
There is a lot to learn from Shanali and this episode just scratches the surface.
Shanali's website in which you can see her art: www.changinglanes.me
See Me Hear Me campaign by Vasculitis UK: https://www.vasculitis.org.uk/news/see-me-hear-me
Digital booklet about ANCA-associated vasculitis: https://online.flippingbook.com/view/730582/
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
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 guidelines or RCGP guidelines for rare disease in general...
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
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 campaign - started because some groups within the rare community feel that their voices go unheard #whosevoice
Also some RuPaul's Drag Race chat. RuPaul...if you're listening, we're your biggest fans.
RareQoL: https://rareqol.co.uk/ #WhoseVoice report: https://www.m4rd.org/2021/10/26/whose-voice/ Narrative Based Medicine review: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5851389/ Rita Charon's Tedx on Narrative Based Medicine: https://www.youtube.com/watch?v=7Uc0jmUkA3E No-one's Listening report on Sickle Cell Society's website: https://www.sicklecellsociety.org/no-ones-listening/ Kimberlé Crenshaw's talk on intersectionality: https://www.ted.com/talks/kimberle_crenshaw_the_urgency_of_intersectionality?language=en
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
16 Dec 2021
Episode 9: The Miller family on XP and Xmas (including a quiz!)
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.
Raife and Eddison then quiz the M4RD staff team in a Genetics Xmas quiz!!
To see Raife and Eddison in action check then out at RareFEST 2019 organised by Cambridge Rare Diseases Network (CRDN): https://www.youtube.com/watch?v=z0E-poOBKtI&t=390s
Watch Nicola's presentation on the efforts she had to go to in order to get Eddison's diagnosis: https://www.m4rd.org/videos/do-you-hear-me-a-parents-perspective-on-rare-disease/
Learn more about Xeroderma Pigmentosum: https://www.teddingtontrust.com/
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
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