The Rare Disease Podcast

Let us know what you think of this episode! We read every comment we receive. Lucy and Melissa record live from emotive agency offices in London! Joined by two special guests, Jason and Kelly from the Chinese University of Hong Kong, who have taken a break in the medical studies to see how rare disease education and advocacy is approached in other countries. Part One: Melissa Clasen, Education and...

Let us know what you think of this episode! We read every comment we receive. Melissa from M4RD interviews Marie who was a healthy and active paramedic until one shift when she suddenly started experiencing pain in her left side (left upper quadrant pain). As a healthcare professional Marie knew likely causes for the sudden pain and knew how to treat it. However the wasn't musculoskeletal or...

Let us know what you think of this episode! We read every comment we receive. This is Part 2 of a live recording of The Unusual Suspects: Rare disease in everyday medicine which was hosted by M4RD and The Medical Genetics Section of The Royal Society of Medicine in February 2022. The Royal Society of Medicine event page for The Unusual Suspects 2022 In this second part you will hear about: The rol...

Let us know what you think of this episode! We read every comment we receive. This is Part 1 of a live recording of The Unusual Suspects: Rare disease in everyday medicine which was hosted by M4RD and The Medical Genetics Section of The Royal Society of Medicine in February 2022. In this first part you will hear from Dr Lucy McKay on Rare Disease 101 and Aisha Seedat on The UK Rare Disease's...

Let us know what you think of this episode! We read every comment we receive. Aged six Alexander developed a squint and hearing loss which didn't cause too much alarm until he started displaying strange behaviours akin to dementia such forgetting where his bedroom was.  Despite concerns from Alex's parents, school and grandparents these symptoms were initially dismissed by the local GP....

Let us know what you think of this episode! We read every comment we receive. Lucy is joined by Helena Baker who was born with a congenital limb defect, worked as a nurse and is the outgoing CEO of Rare Disease Nurse Network. Helena was born with fibular hemimelia - a disorder of limb budding results in a congenital limb malformation characterized by complete or partial absence of the fibula bone...

Let us know what you think of this episode! We read every comment we receive. Do you know what DIDMOAD stands for? Get your medical dictionary ready...diabetes insipidus, diabetes mellitus, optic atrophy and deafness aka Wolfram Syndrome. This week Lucy is joined by Abby who is a young person living with Wolfram Syndrome, Tracy whose daughter has WS leading her to found Wolfram Syndrome UK with he...

Let us know what you think of this episode! We read every comment we receive. Lucy welcomes you back to The Rare Disease Podcast 4 Medics for season 2! Yay! This episode explains what M4RD has been up to this year so far and some plans for the future. The Unusual Suspects: Rare disease in everyday medicine was on 9th Feb. Soon you will be able to catch up on all the talks via the M4RD Video Librar...

Let us know what you think of this episode! We read every comment we receive. Eddison is almost 11 and lives with a rare genetics disorder called Xeroderma Pigmentosum. He and his brother talk about growing up in the rare disease community and how they manage to completely avoid the sun and other UV radiation in order to prevent irreversible damage to Eddison. Raife and I touch on "sibling st...

Let us know what you think of this episode! We read every comment we receive. Dr Sondra Butterworth is from a rare disease family, a carrier of a rare disease and her PhD focused on the quality of life and social support of people living with rare diseases. She talks to Lucy about what it's like to come from a poor, black, rare disease family in Cardiff and how she's turning both her per...

Let us know what you think of this episode! We read every comment we receive. Lucy takes you through her top 11 tips for suspecting and managing rare disease in a primary care setting. If you're a GP this episode is for you and after listening you can find all the helpful links and more information in Rare Disease 101 . Thank you to Dr Will Evans and Dr Gareth Baynam and the whole rare diseas...

Let us know what you think of this episode! We read every comment we receive. Dr Shanali Perera is a contemporary artist, educator, writer and retired clinician. She lives with a rare condition called vasculitis - a rheumatological condition that first presented when Shanali, herself, was training as a Rheumatologist. In this episode we discuss identity. How our different identities interplay with...

Let us know what you think of this episode! We read every comment we receive. Dan Jeffries was born with a rare condition called Wyburn-Mason syndrome that has left him blind in one eye since birth. It was thanks to this condition he was invited to volunteer as a model patient for an Observed Structured Clinical Examination (OSCE) for ophthalmology trainees. Only one trainee correctly identified t...

Let us know what you think of this episode! We read every comment we receive. Sarah Lippett spent eleven years suffering with symptoms from an unknown condition, until she was diagnosed with the rare disease, Moyamoya, at the age of 17. In November 2019 she published her beautiful graphic memoir, A Puff of Smoke, which tells her story using the power of the sequential narrative. Here's a thro...

Let us know what you think of this episode! We read every comment we receive. When Dr Genevieve noticed some problems with her grip and speech she put it down to stress. GP is a high pressured environment and like many doctors, she had a tendency to not worry too much about her own health. She was the first in her family to be diagnosed with myotonic dystrophy, a rare genetic condition, but she wa...

Let us know what you think of this episode! We read every comment we receive. The Student Voice Prize is an annual, international essay competition that raises the profile of rare disease within the medical field, particularly with medical students, nurses and scientists who may have never come across considering rare disease as one field during their training. Findacure and Medics4RareDiseases ho...

Let us know what you think of this episode! We read every comment we receive. Today we will be exploring how people with classic heart attack symptoms are not being recognised as having heart attacks because they don't meet the usual patient profile. I will be joined by representatives from BeatSCAD, Karen and Sarah, plus Dr Adlam, Consultant Cardiologist to raise awareness of spontaneous cor...

Let us know what you think of this episode! We read every comment we receive. Dr Lucy McKay, CEO of Medics4RareDisease, provides some background into the world of rare disease and some info one what you can expect from this podcast. Views, ideas and opinions expressed in this podcast are personal to the individual and Medics4RareDiseases does not accept responsibility for those expressed by guests...