Signalise: a Dazzle4Rare Podcast

On this episode of Signalise: a Dazzle4Rare podcast, we’re helping you get ready for Rare Disease Day 2023 with events, news, and guest Lauren McDermott.  According to RareDiseaseDay.org, you can contribute to this global action and awareness day are, “By Sharing your colours via social media, events, illuminating buildings, monuments and homes, by sharing experiences online and with friends, by c...

On this Valentine’s episode of Signalise: a #Dazzle4Rare podcast, we’ve got news for Amazon Smile charities, we’ve got a lot of awareness days in the diary, and we’ve got your love letters.  If you don't have pen and paper handy, not to worry! All the dates mentioned are in the #Dazzle4Rare International Awareness Days calendar .    Links Mentioned:  Genetic and Rare Diseases (GARD) - Marfan Syndr...

On today’s episode of Signalise: a Dazzle4Rare podcast, we’re joined by Dr Sondra Butterworth PhD, a community health psychologist and so much more. Since discovering she was a carrier of a rare gene, she began to examine the patient journey and how patient narratives can impact the diagnostic journey. Through her work with RareQol they released Whose Voice is it Anyway, a rare community networkin...

If there is something you are curious about, passionate about, or angry about, there’s a platform for that. Platforms engulfed in negativity aren't great but these platforms have also given a louder voice to rare and associated communities that exist online.  In this episode, Kimberly discusses how rare disease communities have thrived on social media platforms. She contrasts the past and present...

Welcome to this final full-length episode of Signalise: a #Dazzle4Rare podcast, in 2022. In this episode, Kimberly recalls the start of #Dazzle4Rare and the wonderful folks who helped make that first year happen. She also shares festive holiday tips for enjoying this season in the ways that are most accessible to you, talks about Tiny Tim's medical condition, drops a few silly festive jokes, and m...

Content Warning: Some parts of this discussion may be distressing or trigger difficult thoughts and feelings for some listeners. If you are experiencing grief, sadness, or struggling to cope, help is available. Please reach out to a medical or mental health provider or speak to someone by phone by dialling at 116 123 for the Samaritans UK or dialling 988 in the US mental health support. --- Daniel...

Sean Gordon is the Founder and Chief Volunteer Officer of RareFundingTeam . Sean was diagnosed with an adult onset condition, Adult Polygulcosan Body Disease . After this life-changing rare disease diagnosis, Sean founded Rare Funding Team with the goal of bringing together communications professionals and rare disease organizations on a pro-bono basis.  Sean has been developing a concept around a...

David Ross is a patient advocate for Rare Disease Mental Health, a virtual chat support group for men with rare conditions to talk about their mental health. This is a safe space for men to talk about their ups and downs and support one another.   David's social media:  LinkedIn - https://www.linkedin.com/in/david-ross-844965171/   --- Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️S...

Now that we are in our second month of Signalise: a Dazzle4Rare podcast and a few episodes under our belt, we will be moving to a bi-monthly schedule. This means today’s episode is short, and our next episode will be a full-length one starting . Join the rare disease men's mental health virtual meetings with it David Ross. For details connect with him on LinkedIn or Twitter at MaleZebra2020.  Lear...

We're entering the month of November with seven rare disease awareness days. In this episode, we're also calling back to our conversation with Lee Reavey of NCBRS on the topic of morphology , or in a medical context, the study of features in genetic conditions. In the context of our discussion, morphology or the physical examination of features led the two visiting consultants at Great Ormond Stre...

This episode is rated G for all the ghouls and goblins! Finally! If you’re like me, you love Spooky Season! Whether its the pumpkin spice lattes (and everything else), the fun decorations, (or as I say in our home “year-round décor”), or the chance to dress up; it’s a great time to express your creativity.  In this episode of Signalise: a #Dazzle4Rare podcast,  we’re going to cover a few subjects:...

Lee Reavey is the Co-Founder and CEO of the NCBRS Worldwide Foundation . He co-founded NCBRS Parent Support Group in May 2010. Lee’s son received a diagnosis Nicolaides-Baraitser Syndrome as only the seventh known case of NCBRS in the world. At that time, there was very little, if any, information available online.  NCBRS is related to a gene variant of SMARCA2 but more research is needed.  ⬇️⬇️ N...

David shares a little about his conditions,  Occipital Horn syndrome  and  Postural Orthostatic Tachycardia Syndrome (PoTS) . He shares the early historical link between  Ehlers-Danlos syndromes  and Occipital Horn in the link to connective tissue and iron storage disorders. We also dive into condition overlap, rare and not-so-rare conditions, and more. Also, can rare and comorbid conditions work...

Welcome to Signalise: a Dazzle4Rare podcast. Here, we signal-boost undiagnosed and rare stories, turning up the volume on their life-changing stories.  For our inaugural guest episode, we're glad to welcome friend, advocate, and parent, Sam Fillingham. Sam is the Founder of Poland Syndrome Support UK . According to their website pip-uk.org, " many children are born in the UK and across the world w...

Welcome to Signalise: a Dazzle4Rare podcast. Here, we signal-boost undiagnosed and rare stories, turning up the volume on their life-changing stories.    This episode introduces your host, Kimberly, and her mission to signal-boost undiagnosed and rare stories.    Kimberly touches on her own experience with Ehlers-Danlos syndrome in this episode, find out more about the Ehlers-Danlos syndromes here...

Welcome to Signalise: a podcast from Dazzle4Rare.    Here, we signal-boost undiagnosed and rare stories, turning up the volume on their life-changing stories.  In this brief trailer, Kimberly talks about what you can expect from Signalise. You'll also hear why Signalise, and Dazzle4Rare, have been life-changing for Kimberly and many others Worldwide.  To learn more about the Ehlers-Danlos syndrome...