The Rare Disease Podcast 4 Medics

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! LinksAccompanying 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.Ehlers Danlos GP Toolkit Orphanet's description of Vascular Ehlers DanlosLoeys-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 NoticeThis 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.

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.orgBionical 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

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.LinksNHS information on genetic counsellingBritish Society of Genetic MedicineGenomics Education ProgrammeRare Disease Hong KongUnique - information for families and professionals about rare chromosomal conditionsSponsorship NoticeThis 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.

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.LinksRead our latest blog A REAL rollercoaster - from paramedic to patientMore info on Superior Mesenteric Artery Syndrome from NORDRenal Nutcracker Syndrome on Orphanet - a related compression syndrome of the left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aortaNicolette 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 NoticeThis 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.

This is Part 2 of a live recording of The Unusual Suspects: Rare disease in everyday medicine which was hosted by M4RD and The Medical Genetics Section of The Royal Society of Medicine in February 2022. The Royal Society of Medicine event page for The Unusual Suspects 2022In this second part you will hear about:The role of genomics in achieving health equityDr Denise Williams, Consultant Clinical Geneticist, Birmingham Women's and Children's NHS Foundation TrustEnhanced Genetics Services Evaluation ReportGenome UK: The future of healthcareReading recommendation!! The Immortal Life of Henrietta LacksNarrative based medicine and intersectionalityDr Sondra Butterworth, Community Psychologist, RareQoLListen to Sondra talking about inclusivity in Season 1 of the podcast hereThe 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 attackDr David Adlam, Associate Professor of Acute and Interventional Cardiology, University of LeicesterListen to the episode featuring Dave and BeatSCAD called Not your usual heart attack herePutting the ‘I' in Intersectionality: the unspoken pandemicMiss Zainab Alani, Medical Student, University of Glasgow & The Student Voice Prize 2021 winner Learn more about Myasthenia Gravis through myaware and OrphanetSponsorship NoticeM4RD 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.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.

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. LinksThe Royal Society of Medicine event page for The Unusual Suspects 2022The UK MPS SocietyThe Whose Voice is it Anyway report that Aisha contributed to.The Sickle Cell Society and the APPG's No-One's Listening Report  published following inquiry into avoidable deaths and failures of care for sickle cell patients.DeclarationDr 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 NoticeThis 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.

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.Links  The Alex Leukodystrophy Charity (Alex TLC)Improving clinical care by learning about lived experience - a talk by Karen Harrison and Dr Alexandra Downes.Sponsorship NoticeThis 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.

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 NoticeThis 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.

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!Wolfram Syndrome UKDiabetes GenesOrphanetGene ReviewsClinical trials.govThis 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.

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.

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=390sWatch 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/Browse Rare Revolution Magazine: https://rarerevolutionmagazine.com/

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 #whosevoiceAlso 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=7Uc0jmUkA3ENo-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

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...ReferencesWhelan AJ, Ball S, Best L, Best RG, Echiverri SC, Ganschow P, Hopkin RJ, Mayefsky J, Stallworth J. Genetic red flags: clues to thinking genetically in primary care practice. Prim Care. 2004 Sep;31(3):497-508, viii. doi: 10.1016/j.pop.2004.04.010. PMID: 15331244. Do You hear Me - by Nicola MillerFind Zebra - search engine for rare disease diagnoses Orphanet  - high-quality information on rare diseasesRare Disease UKGene PeopleUniqueSWAN UK - support for this with undiagnosed conditionsEuropean Reference Networks for rare disease (ERNs)

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.meSee Me Hear Me campaign by Vasculitis UK: https://www.vasculitis.org.uk/news/see-me-hear-meDigital booklet about ANCA-associated vasculitis: https://online.flippingbook.com/view/730582/

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.orgMe, Myself and Eye book: https://memyselfandeye.co.uk/Acrotales podcast: https://acrotales.com/episodes/The Pituitary Foundation: https://www.pituitary.org.uk/

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=1sSarah's website: http://www.crayonlegs.com/When Lucy and Sarah were featured on Woman's Hour: https://www.bbc.co.uk/food/programmes/m000b4whThank you Sarah for being interviewed and Kate Allnutt for doing the editing of my very first interview - Lucy xox

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.ukThis 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

The Student Voice Prize is an annual, international essay competition that raises the profile of rare disease within the medical field, particularly with medical students, nurses and scientists who may have never come across considering rare disease as one field during their training.Findacure and Medics4RareDiseases host the competition together and the winner is published in The Orphanet Journal of Rare Diseases!In this episode Lucy from M4RD 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/Caitlyn's essay - https://www.findacure.org.uk/wp-content/uploads/2021/03/Caitlyn-Taylor-Essay.pdfThe Rembrandt painting - https://www.blog-lwinram.com/2020/09/23/edinburgh-seven/

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

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.