Let us know what you think of this episode! We read every comment we receive.

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.

Addisons Self-Help Group
M4RD Ambassadors
Grace's blog about rare disease and the emergency department 

Views, ideas and opinions expressed in this podcast are personal to the individual and Medics4RareDiseases does not accept responsibility for those expressed by guests.

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

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

Let us know what you think of this episode! We read every comment we receive.

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

Let us know what you think of this episode! We read every comment we receive.

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.

Links
The Association of the British Pharmaceutical Industry
The ABPI Code of Practice
RAREFest 2022 come watch the Rare Monologues
Grace's blog about rare disease and the emergency department
Give Blood, Spread Love, England
Huntington's in Mind

Views, ideas and opinions expressed in this podcast are personal to the individual and Medics4RareDiseases does not accept responsibility for those expressed by guests.

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

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

Let us know what you think of this episode! We read every comment we receive.

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.

Ehlers Danlos GP Toolkit
 
Orphanet's description of Vascular Ehlers Danlos

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

Let us know what you think of this episode! We read every comment we receive.

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

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 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.

Links
NHS information on genetic counselling
British Society of Genetic Medicine
Genomics Education Programme

Rare Disease Hong Kong
Unique - information for families and professionals about rare chromosomal conditions

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

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 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.

Links
Read our latest blog A REAL rollercoaster - from paramedic to patient

More info on Superior Mesenteric Artery Syndrome from NORD

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

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 role of genomics in achieving health equity
Dr Denise Williams, Consultant Clinical Geneticist, Birmingham Women's and Children's NHS Foundation Trust

Enhanced Genetics Services Evaluation Report

Genome UK: The future of healthcare

Reading recommendation!! The Immortal Life of Henrietta Lacks

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

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 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.

Links
The Royal Society of Medicine event page for The Unusual Suspects 2022
The UK MPS Society
The 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.

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

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. 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 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