The Rare Disease Podcast

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

Let us know what you think of this episode! We read every comment we receive. You gotta fight for your right to PARKY! Phil is an amateur stand-up comedian from Birmingham who was diagnosed with Young Onset Parkinson’s Disease at the age of 36. Phil shares the lighter and more ridiculous parts of his condition through his comedy and regularly performs gigs around the country. Phil chats to Lucy ab...

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

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

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

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

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

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

Let us know what you think of this episode! We read every comment we receive. 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 classical triad of symptoms consisting of sensorineural hearing loss, cerebellar ataxia, and myelopathy. She had a deformity on her spinal...

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

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

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

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

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

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

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

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

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

Let us know what you think of this episode! We read every comment we receive. Dunstan Nicol-Wilson joins Lucy to discuss all things sickle cell and many things apparently unrelated. About Sickle Cell from The Sickle Cell Society 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,...

Let us know what you think of this episode! We read every comment we receive. **** Trigger warning: Baby loss ***** 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. Links SOFT...

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 T...

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 en...

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 pa...

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 compl...

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) wh...