Signalise: a Dazzle4Rare Podcast: Recent Episodes
Kimberly Thomas-Tague
Welcome to the first 2024 episode of Signalise: a Dazzle4Rare podcast! Remember, we're now airing on Fridays. In this episode, we reflect on 2023's significant rare disease developments and look forward to more progress in 2024.
Most Read Rare Disease News of 2023
- FDA's first gene therapy approval for DMD.
- Promising treatments for idiopathic pulmonary fibrosis and hemolytic disease of the fetus and newborn.
- Risks of colitis in MS patients using ocrelizumab and rituximab.
Sources:
AJMC's Top 5 Rare Disease Articles of 2023
https://www.ajmc.com/view/top-5-most-read-rare-disease-articles-of-2023
The 10 Biggest Stories in Rare Disease for 2023
https://www.rarediseaseadvisor.com/features/the-10-biggest-stories-in-rare-disease-for-2023/#:~:text=The%20US%20Food%20and%20Drug,and%20still%20able%20to%20walk
New York Times - Family in ‘Take Care of Maya’ Documentary
https://www.nytimes.com/2023/11/10/us/take-care-of-maya-trial-damages-kowalski.htmlResearching Reform - What Happened to Maya
https://researchingreform.net/2022/10/20/what-happened-to-maya-when-professional-arrogance-and-ignorance-collide/
Family in ‘Take Care of Maya’ Documentary Is Awarded $261 Million
https://www.nytimes.com/2023/11/10/us/take-care-of-maya-trial-damages-kowalski.html
What did Gypsy Rose Blanchard do? What to know about the case as she is released from jail
https://www.nbcchicago.com/news/local/what-did-gypsy-rose-blanchard-do-what-to-know-about-the-case-as-she-is-released-from-jail/3315071/
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find us on LinkedIn as well at Dazzle4Rare.
A quick "bonus" episode to drop to let you know that we'll be making some scheduling changes and 2024 will hopefully fingers crossed be a year of positive changes. But first, a big thanks to our faithful listeners for tuning in today and to this bi-monthly podcast. From this month, January 2024, we're shifting our podcast schedule to Fridays, keeping the podcast bi-monthly.
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host us on LinkedIn as well at Dazzle4Rare.
In this festive episode, Kimberly shares a little holiday spirit by with heart-warming stories of children with rare conditions and their families finding hope. She also shares International Universal Health Coverage Day brought to our community's attention by Dr. Eleonora Passeri of Rare Special Powers (IT).
- International Universal Health Coverage Day: https://www.un.org/en/observances/universal-health-coverage-day
- Emma's Dravet Syndrome Story:
https://www.cbsnews.com/philadelphia/news/dravet-syndrome-rare-disease-emma-watson
-
George's Lung Condition: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1403838
-
George's Christmas Celebration:
https://www.coventrytelegraph.net/news/real-life/rugby-boys-first-christmas-without-28203691
-
Poppy's Musical Tribute: https://www.thetelegraphandargus.co.uk/news/23958762.bradford-teen-re-releases-song-memory-young-relatives
-
Buy a Copy of the Song: https://beyondrecords.uk/
-
Cure 4 The Kids' Challenge:
https://nevadabusiness.com/2023/11/celebrities-come-together-to-support-the-happy-xmas-shout-out-challenge
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host us on LinkedIn as well at Dazzle4Rare.
Please note there are audio issues with this episode. I'll be working to upload an improved version later on release date.
In this, Kimberly shares a range of awareness events including International Epilepsy Awareness Day and World Pneumonia Day. A reminder for listeners that events like Bio-IT World Europe event are coming up and can be found on the Events Calendar. Be sure to check out conferences and events ahead of time so you don't miss out on tickets or early-bird discounts.
Also, for those interested in industry and clinical trials specifically, an e-book from Applied Clinical Trials has been published focusing on the challenges and opportunities in rare disease clinical research. She also summaries a significant lawsuit against the U.S. Department of Health and Human Services and provides a bittersweet update on the Netflix documentary "Take Care of Maya," shedding light on the unique struggles of rare disease families and providing care for sick children.
Finally, Kimberly touches on the story of Derya and it's paralells to Maya Kowalski's story. Themes such as forced hospitalization and navigating the healthcare system with a sick child are touched on so listener discretion is advised.
Johns Hopkins Medical page on pneumonia https://www.hopkinsmedicine.org/health/conditions-and-diseases/pneumonia
Going the Distance: Insights into Rare Disease Clinical Studies, Trial Retention & Patient Experience
https://www.appliedclinicaltrialsonline.com/view/going-the-distance-insights-into-rare-disease-clinical-studies-trial-retention-patient-experience?utm_source=sfmc&utm_medium=email&utm_campaign=mktg_ebook
Global Genes Resources Guide
https://globalgenes.org/know-your-family-history/?utm_campaign=Nov-QNL&utm_medium=email&_hsmi=282849305&_hsenc=p2ANqtz--IM7dHCwVZkl2UEhckEJR3jg3xyfXGcqzphukDkbgeTF6X4EKnt9WX9qPFT6AHF8qg9sWiThjLTSR7fvipPAzwGc6sKA&utm_source=hubspot
HIV+Hepatitis Policy Institute Press Release
https://hivhep.org/wp-content/uploads/2023/02/HIV-Hep-DLC-DPAC-Litigation-Amicus-Briefs-press-release-2.10.23.pdf
Affordable Care Act Information
https://www.healthcare.gov/where-can-i-read-the-affordable-care-act
Take Care of Maya on Netflix
https://www.netflix.com/gb/title/81349305
[New York Times article on Take Care of Maya
https://www.nytimes.com/2023/11/10/us/take-care-of-maya-trial-damages-kowalski.html
Derya's Story
http://www.freederya.info/deryas-story/
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host us on LinkedIn as well at Dazzle4Rare.
In this episode, Kimberly shares several important awareness events happening in November, such as International Epilepsy Awareness Month, National CRPS Awareness Month, and Colour the World Orange Day for Complex Regional Pain Syndrome. It also highlights days like World NET Cancer Day, International 15q Day, and Smith-Magenis Syndrome Awareness Day, among others.
The podcast touches on news from Medics4Rare survey aiming to increase healthcare professional awareness of rare diseases. Dr. Lucy McKay's article in The Guardian addressing the need for improved approaches to rare diseases in healthcare education is also mentioned. Also discussed, the ERN ReConnect's efforts to translate clinical patient management flyer and much more.
Links mentioned in the episode are below:
- Epilepsy Sparks Insights podcast
- The Disorder Channel website
- NFED Advocacy Day
- ERN Re-Connect
- Rare Revolution Magazine interview with ERN Re-Connect
- NIHR study ideas
Education and Cognitive Development study
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host us on LinkedIn as well at Dazzle4Rare.
Hold on to your pointy hats! In this episode, we share many more celebrities with rare or less commonly understood conditions in sci-fi and horror media. The discussion begins with Bruce Willis, who has recently been diagnosed with a rare form of dementia. The conversation extends to other celebrities and their amazing careers in entertainment over the years.
We break up some serious and inspiring stories with some original (bad) jokes by Kimberly based on The Shinning and more.
We cap things off with three fictional rare conditions from days of yore and spooky lore, some based in real science!
References:
- Staying In with Emily & Kumail:
https://podcasts.apple.com/gb/podcast/staying-in-with-emily-kumail/id1503412182
-
Jeffrey Aronson: When I use a word… Lupus: https://blogs.bmj.com/bmj/2019/03/15/jeffrey-aronson-when-i-use-a-word-lupus/
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The truth about how infections spread:
https://health.clevelandclinic.org/zombie-virus/#:~:text=After%20COVID-19%2C%20the%20thought,truth%20about%20how%20infections%20spread.
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host us on LinkedIn as well at Dazzle4Rare.
In the latest episode of Signalise, Kimberly performs a speedrun of your Rare and Relevant TL;DR and happy news stories from our D4R community.
We've also added new awareness events for October, including the National Disability Employment Awareness Month, and share some exciting news from our friends at GOPI3KS.
Resources
-
October is National Disability Employment Awareness Month
[More info: DOl.gov] -
Genomics England has added a list of rare conditions for inclusion in their research study.
[www.genomicsengland.co.uk/news/genomics-england-announces-list-of-rare-conditions-to-be-included-in-world-leading-research-study] -
Lauren Pires from Mississauga is the first-ever Canadian recipient of the Invisible Disabilities Association’s “But You LOOK Good” Inspiration Award.
[https://www.modernmississauga.com/main/2023/9/27/mississauga-woman-named-first-ever-canadian-recipient-of-invisible-disabilities-association-award]
- Danielle from Daniellevates Instagram account
[https://www.instagram.com/p/Cx-lrE6sZs7]
- The Ehlers-Danlos Society announces its first cohort of the Centers & Networks of Excellence Program.
[www.ehlers-danlos.com/centers-networks-of-excellence-first-cohort-announced/]
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Lafora Disease now has unique ICD-10 Diagnostic Codes effective from October 1, 2023. [chelseashope.org/announcing-icd-10-codes-for-lafora-disease/]
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A study reveals that £60mn of public money was wasted on lost SEND tribunals in 2021-22. [Study: probonoeconomics.com/wasting-money-…]
-
ACMCRN, LunaPBC, and Genetic Alliance
[www.acmcrn.org/patient-registry] -
NIHR publishes its new Outcomes Framework.
[www.nihr.ac.uk/about-us/our-impact/outcomes-framework.htm]
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host us on LinkedIn as well at Dazzle4Rare.
In this episode of Signalise, we dive into the world of rare and relevant events. From September's Mitochondrial Disease Awareness Month to October's myriad of awareness campaigns, we've got your calendar covered.
But that's not all!
Stay tuned as we feature a special guest, Daniel De Fabio from The Disorder Channel, who shares insights from Rare Week in San Diego. We had a long chat so only a small portion is featured in this week's episode. Stay tuned and subscribe to Signalise: a Dazzle4Rare podcast to hear more from our chat with Daniel.
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host us on LinkedIn as well at Dazzle4Rare.
In this rare and relevant episode Kimberly delves into various awareness days and months in September. We also talk about upcoming webinars and conferences, share industry resources, and highlight the inspiring "Life After Diagnosis Day" follow-up available on The Disorder Channel.
Stay tuned for voicemails from our listeners, news about Weill Cornell Medicine and New York-Presbyterian Weill Cornell Medical Center, and San Diego-based Crinetics Pharmaceuticals' promising results in the development of an oral medication for acromegaly. So much to hear in one episode!
Links ⬇️
http://dazzle4rare.net/awareness_days](http://dazzle4rare.net/awareness_days https://www.hopeforhh.org/get-involved/](https://www.hopeforhh.org/get-involved https://rarediseases.org/rare-diseases/usher-syndrom](https://rarediseases.org/rare-diseases/usher-syndrome https://www.childrenshospital.org/conditions/microvillus-inclusion-disease
https://rarediseases.org/event/nfed-advocacy-day/](https://rarediseases.org/event/nfed-advocacy-day https://globalgenes.org/event/rare-health-equity-forum/](https://globalgenes.org/event/rare-health-equity-forum
https://www.hlth.com/2023event https://mmpharmasciences.pathfactory.com/l/integrated-perspectives
https://news.weill.cornell.edu/news/2023/09/national-organization-for-rare-disorders-designates-weill-cornell-medicine-and-newyork
Reach Daniel De Fabio at daniel@rarediseasefilmfestival.com
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host us on LinkedIn as well at Dazzle4Rare.
In this episode, Kimberly discusses various awareness months and initiatives in the global rare community, beginning with a recap of International Ataxia Awareness Day and a message from Alan Thomas, a rare disease advocate, emphasizing the importance of collaboration and amplifying the rare disease voice.
We highlight awareness months in September, including International Autoinflammatory Awareness Month, Spinal Muscular Atrophy Awareness Month, Craniofacial Acceptance Month, International Hypothalamic Hamartoma Awareness Month, Leukodystrophy Awareness Month, National Immune Thrombocytopenic Purpura (ITP) Awareness Month, Newborn Screening Month, Pulmonary Fibrosis Awareness Month, STXBP1 Awareness Month, and Thyroid Cancer Awareness Month. The podcast also covers news related to rare diseases, such as investments in rare disease research, personal experiences of patients, updates in disability assistance, and medical advancements like early Alzheimer's diagnosis.
Resource Links:
- Awareness Days Calendar
- https://autoinflammatorymonth.org/
- alexTLC The Leukodystrophy Charity - Light Up Blue
- EP22 with Dr. Nicholas Garnier
- Pulmonary Fibrosis Awareness Month
- STXBP1 Awareness Month
- Thyroid Cancer NHS Connect
- How to subscribe to a Dazzle4Rare calendar page
- Article about Josiah and Makenzie Cabrera
- NCBRS 5k Virtual Run
- NCBRS Scientific Advisory Board LinkedIn
- CRDN RareSumitt2023
- PIP Disability assistance changes UK
- Youngest Alzheimer's Case
- CRISPR gene editing for EU crops (Nature article)
- EU proposal on CRISPR-edited crops is welcome — but not enough (article reprint)
- CNN AI article
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host us on LinkedIn as well at Dazzle4Rare.
In this episode, Kimberly takes a closer look at the journey we’ve taken together over the last seven years with #Dazzle4Rare. From grassroots, this annual event has been a spark of hope uniting us across multiple continents over the years.
It sure has been a journey in all senses of the word. From hearing people greet each other in various languages in the past to seeing people participate from various countries around the world. It’s been really enlightening.
So let’s chat about some insights I’ve collected, scattered as they may be, over the last seven years.
Event Summary from 2016 to 2023 with insights and data from events
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host Kimberly on LinkedIn at @kattague.
Welcome to Signalise: a Dazzle4Rare podcast guest-hosted by Sam Fillingham, CEO of PIP-UK the Poland Syndrome Charity and Torie Robinson of the Epilepsy Sparks podcast.
In this episode, we Sam and Torie share events and news relevant to July 2023. We start with Fragile X Syndrome Awareness Month, Sarcoma Awareness Month, Glioblastoma Awareness Day, World Castleman Disease Day, World Sjogren's Day, CTNNB1 Awareness, Legg-Calve-Perthes Awareness Day, and Jansen's Disease Awareness Day.
This month also marks Acute Necrotizing Encephalopathy (A.N.E) Awareness Day, a condition affecting young children, and the efforts of ANE International to support affected families.
On the non-rare front, we discuss Chronic Disease Day, advocating for better healthcare and healthier communities worldwide. In conferences, we remind listeners about the Health Union Annual Social Health Connexion Conference, a virtual event connecting global healthcare advocates on July 25-26, 2023.
We also share news about the Rare Youth Revolution's project "My Life, My Genetics," making genetic information accessible for young people. This project is driven by individuals living with various rare conditions, aiming to educate others about genetics and relationships.
Stay informed and engaged with these crucial events, conferences, and more in our global rare and associated communities. Many thanks to both Sam and Torie for helping with this week's episode.
Kimberly will be back for episode 28 as we get closer to Dazzle4Rare 2023!
What About Poland Syndrome?
Epilepsy Sparks
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host Kimberly on LinkedIn at @kattague.
In this episode, we dive into a range of events, discussing various awareness days taking place in July, and highlighting opportunities that focus on patient-centered initiatives for rare diseases.
We also discuss various awareness days in July, including Chronic Disease Day, Glioblastoma Awareness Day, World Castleman Disease Day, World Sjögren's Day, #CTNNB1 Awareness, Legg-Calve-Perthes Awareness Day, Jansen’s Disease Awareness Day, and Acute Necrotizing Encephalopathy (ANE) Awareness Day. We highlight the finalists for the Social Health Awards and provide updates on the Xcelerate RARE challenge, Well-CAST Caregiver Support program, and Patient Office Hours.
Source links:
- Fragile X Syndrome: fragilex.org
- CDC Mental Health Awareness: cdc.gov
- Sarcoma Awareness: surgicaloncology.co.uk
- Chronic Disease Day: aha.org, ec.europa.eu
- Glioblastoma Awareness: glioblastomafoundation.org
- World Castleman Disease Day: castleman.org
- Jansen’s Disease Awareness Day: thejansensfoundation.org
- Rare Disease Clinical Trial Network: https://twitter.com/rare_trial
- Social Health Awards Finalists: wegohealth.com
- Well-CAST Caregiver Support: kelleherlab.weebly.com
- Patient Office Hours: rarecommunity.org
- Patient-Centricity in Clinical Trials: PMLive website, Nature journal website
- Conferences: Social Health Network/Health Union Conexxion Conference, health-union.com
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host Kimberly on LinkedIn at @kattague.
Welcome to this week’s episode of Signalise: a Dazzle4Rare podcast. Bringing you the TL;DR on the the latest in the world of rare and associated conditions. This week, we'll be discussing what's happening in the realm of awareness, highlighting both rare and non-rare awareness events, spotlighting upcoming conferences in July, and a quick-fire roundup of global news in the rare and associated communities around the world. Let’s not forget your Dazzle4Rare 2023 info!
Strap in with your favourite beverage or snack and let’s do the darn thing!
‐--
Links to Come
⬇️
Happy Pride Month!
Hey, welcome to another episode of Signalise and happy Pride Month 2023! In today's episode, we'll be giving you the rare and relevant TL;DR and LGBTQ+ Price as it intersects with the URCIID or undiagnosed, rare, chronically and invisibly ill, and Disability communities. We acknowledge that people hold a range of beliefs and ideologies, including those shaped by religion or political affiliations. Our intention is to create a safe and inclusive space for open dialogue and understanding, regardless of these affiliations, understanding everyone has unique and diverse beliefs. We invite everyone to join us on this journey of learning, empathy, and celebration of the rich diversity that makes our space so special.
Pride Month is celebrated globally in June, honoring the LGBTQ+ community's history, milestones, and ongoing quest for equality in our global society. Later in the podcdast, we'll talk about how individuals with rare diseases navigate their diverse identities, find support within the LGBTQ+ community, and overcome unique challenges.
Join the celebration of experiences, resilience, and history but first, grab your beverage of choice and check out this episodes Rare and Relevant, your TL;DR for our global space!
Links Mentioned:
- Dr. Nicholas Garnier https://www.podbean.com/eas/pb-wyvsv-1414f86
- https://www.dazzle4rare.net/add-calendar/
- Intrahepatic Cholestasis of Pregnancy (ICP) Awareness Month - https://icpcare.org/
- neonatalscreeningday.org
- https://www.worldwithoutdisease.com/
- https://globalmeet.webcasts.com/starthere.jsp?ei%3D1619066%26tp_key%3D3051ea4f62%26sti%3Dmjhemail&sa=D&source=calendar&usd=2&usg=AOvVaw28fJ5K5yn6puTyjRGp7fVh
- https://mcri.zoom.us/webinar/register/7616855842897/WN_Fwaw6T_sTOCknWCfgT89VQ
- www.gov.uk/government/news
- https://www.swissinfo.ch/eng/multimedia/swiss-research-helps-paralysed-man-walk-again-using-implants-that-read-brainwaves/48561514#:~:text=A Dutch man who was,spinal cord to activate muscles
- https://rightasrain.uwmedicine.org/well/health/early-MS-symptoms
- https://globalgenes.org/event/rare-health-equity-forum/
- https://globalgenes.org/event/rare-advocacy-summit/
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host Kimberly on LinkedIn at @kattague.
Welcome to this bonus episode of Rare and Relevant TL;DR!
Our regular episode this week, the week of the 24th of May 2023 features a chat with Dr. Nicola Garnier of Screen4Care. Go check that episode out to hear our discussion about new-born screening.
Now, whether this is your first or fifth episode, thanks for being here! It means a lot to me and the folks whose news, events, and guest appearances are featured in this podcast. If you’d like to share something with us or share a voice message, check the show notes for details on how to make contact.
Below are links to the information mentioned in this episode.
For folks who would like to check out Kimberly's Social Health Awards profile page, you can do so here:
https://www.wegohealth.com/KimberlyT11.
- PKU Info
- 2022 Canadian ALS Awareness
- Beacon for Rare Events
- Lee Reavey & Taylor Kane interview with Pam Cusick of RPV
- CamRare Fun Run
- Social Health Award Nominees
- Rare Disease in America Survey
- Hanson-Wade Conferences in June
- Duchenne Care Conference (Online)
- World without Disease tickets
- 4 Year-Old Paxton Participates in Dravet Drug Trial
- FNIH Accelerates Medicines Partnership
- The Death of a Metaverse
- There are now 10k rare diseases
- Biomarkers, Wearables, and Decentralised Trials
- US Care Providers Increasingly Comfortable with D2C Genetic Tests
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host Kimberly on LinkedIn at @kattague.
Welcome to this episode of Signalise: a Dazzle4Rare podcast. In this episode, we’re joined by Dr. Nicolas Garnier (French pronunciation: [ni.ko.la]) who’ll tell us a bit about himself and his work.
We’d planned to discuss Dr. Garnier’s work in new-born screening and the topic broadly but I couldn’t help myself; I wanted to get a more full understanding on his current project, Screen4Care where he is the consortium lead.
I think of Dazzle4Rare as a community service to our rare and associated communities so I’m glad that I dug in a little bit deeper during this chat and I hope you’ll enjoy our conversation. In fact, I’d like to have him back for a future follow-up episode so if you have questions you’d like Dr. Garnier to answer, email them over!
For those hoping to hear our TL;DR segment, Rare and Relevant, there will be a bonus episode today covering those news items. I hope you’ll listen to both but if you’re looking for some R and R, head over to that episode for what’s happening in our global community.
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host Kimberly on LinkedIn at @kattague.
We're kicking off with a bang! May is jam-packed with event, awareness days, and news! Without further ado, let’s do the darn thing and get to Rare and Relevant, Your TL;DR!
First up, it's Huntington's Disease Awareness Month, Acute Disseminated Encephalomyelitis (ADEM) Awareness Month, ALS Awareness Month, Cystic Fibrosis Awareness Month, Ehlers-Danlos Syndrome and Hypermobility Syndrome Awareness Month, Ichthyosis Awareness Month, Myositis Awareness Month, Prader-Willi Syndrome Awareness Month, Progressive Supranuclear Palsy (PSP) Awareness Month, and PTEN Hamartoma Tumor Syndrome Awareness Month, all happening from May 1st to 30th.
Speaking of PTEN awareness month, back in November of 2022 I spoke with Cowden Syndrome / PTEN syndrome patient advocate and men’s mental health advocate, David Ross where he shared a little about the association between these conditions.
If you’d like to hear the rest of the episode after this one, the link will be in the show notes.
[https://signalise.podbean.com/e/ep8-david-ross/]
Stil in May, the 15th marks International Mucopolysaccharidosis Awareness Day and Tuberous Sclerosis Complex (TSC) Global Awareness Day. And don't forget CDG Awareness Day on May 16th, dedicated to raising awareness for a family of rare metabolic diseases that are often overlooked by the medical and scientific communities.
If that’s not enough awareness for you in May, we also have World Neurofibromatosis Awareness Day on May 17th, dedicated to raising awareness for this condition, causing tumors to grow on nerves throughout the body.
On May 19th, we have #Red4Veds, a social media campaign where people are encouraged to wear red and share photos on social media to raise awareness for Vascular Ehlers-Danlos Syndrome, a rare genetic disorder that affects the connective tissues in the body. vEDS carries with it a shortened life-span with most folks rarely surpassing their 40th birthday. If you have a family history of aortic dissection, tears or eruptions of other organs, please see your GP.
And for those in Wisconsin, USA mark your calendars for Rare Disease State Advocacy Day on May 17th from 3:30pm to midnight, organized by the Every Day Life Foundation. This is a day for Wisconsin residents impacted by rare diseases to come together, meet with state legislators, and share their stories to help advance the policy priorities of the rare disease community.
What about PS? PodcastDid you know that friend of the podcast and first guest, Sam Fillingham, has started a Poland Syndrome podcast alongside host Giselle Barbosa?
The podcast is called “What about PS?” and will be hosted primarily by Giselle. She is a PIP-UK ambassador, an entrepreneur, and an athlete!
According to the press release, “ (The) podcast aims to shine a light on Poland Syndrome, a rare disease, and the lived experience of the Poland Syndrome community. Each episode, Giselle will explore inclusive and varied experiences of people living with Poland Syndrome with a variety of guests, from Paralympian Kim Daybell, Former Cricketer Lewis Hatchett, Australian Gymnast Clay Mason Stephens to medical professionals, bra companies and the most amazing members of our community. With engaging interviews, thought-provoking discussions, and the inclusive experience of the Poland Syndrome Community. The What about PS? podcast promises to be a must-listen for anyone curious about Poland Syndrome. Including the Poland Syndrome community, their friends and families, medical professionals and the rare disease community.”
[Insert Whatsapp clip from Sam if she sends one]
Whether you are affected personally by Poland Syndrome or not, I have no doubt the podcast will be interesting and engaging! You can find them wherever you get your podcasts, just search “What about PS?”
Very quickly, also in Poland Syndrome news, a little boy here in the UK named Charlie hosted a fun-run for Poland Syndrome. He’s a big fan of PIP-UK and the amazing things they do for kids like him. He raised over £844, roughly 1,560 US Dollars or 87392 Indian Rupies, for PIP UK. He reached 168% percent of his goal! Well done, Charlie and to the 32 folks who donated to his fun run for Poland Syndrome Support UK. A link will be in the show notes.
[https://www.justgiving.com/page/pip-uk-poland-syndrome-charity-charliesrun]
News SegmentAll links will be in the show notes so make sure to subscribe on your podcasting app of choice or subscribe to our YouTube Podcast. You can find us by searching Dazzle4Rare on any of these platforms.
Sanford Research hosts the 13th Annual CoRDS Great Plains Rare Disease SummitFrom the 24th April press release, “Sanford Research will host the Sanford CoRDS 13th Annual Great Plains Rare Disease Summit May 11-12 in Sioux Falls. This year’s event theme is, ‘Rare Neurodevelopmental Disorders.’”
The annual summit on rare diseases aims to bring together researchers and those affected by rare diseases to collaborate and educate people on advancements in the field of pediatric neurodevelopmental disorders. The event kicks off with opening remarks from Ashish Gupta, followed by presentations from rare disease advocates Amber Freed and Allison Bones. Thursday's sessions are open to patients, families, and those in the community impacted by rare diseases.
[source: https://news.sanfordhealth.org/news-release/sanford-research-to-host-great-plains-rare-disease-summit/]
Shout-out to Allison if you’re listening!
On to topic of CoRDS and Sanford ResearchSanford Health is a non-profit health care provider in the US. They’ve created a Rare Disease Registry to gather data on rare conditions. The registry aims to improve the understanding of rare diseases and accelerate research and treatment development. The registry is open to anyone in the US with a rare condition and is free to participate in. Participants can opt to share their medical history, symptoms, and genetic information to help researchers get a better understanding of their condition. The registry also includes a biobank where participants can donate samples for further research. So far, the registry has enrolled over 2,000 participants and is actively seeking more.
What’s a biobank, you may be asking?
A biobank in rare disease is a repository that stores biological samples (such as blood, tissue, urine, or saliva) and associated data from individuals with rare diseases. The purpose of a biobank is to provide a resource for researchers to study the underlying causes of rare diseases, develop new diagnostic tools and treatments, and ultimately improve patient outcomes.
Biobanks typically collect samples from individuals with rare diseases and their family members, as well as from healthy individuals for comparison. The samples are carefully stored and labeled, and the associated data (such as medical histories, genetic information, and demographic information) are recorded in a database.
Biobanks are critical for advancing rare disease research because they provide researchers with access to a large number of rare disease samples, which would be difficult to obtain on an individual basis. They also help to standardize sample collection and data recording, which makes it easier to compare data from different studies and identify commonalities and differences between rare diseases.
We’ll drop a link in the show notes for more info.
[source: https://research.sanfordhealth.org/rare-disease-registry]
New study discovers over 800 genes causing 60 rare genetic disorders in over 5,500 individuals, highlighting need for increased research participation for underrepresented groupsThe study called Deciphering Developmental Disorders looked at 5,500 people in the UK and Ireland. They found that over 800 genes were involved in causing about 60 conditions, with three-quarters caused by spontaneous mutations. This research can help doctors make faster and more accurate diagnoses for people with these conditions.
The study also found that families of non-European ancestry had lower chances of getting a correct diagnosis, spotlighting the need for increased research participation from under-represented groups. By encouraging participation from people of diverse ethnic and economic backgrounds in research studies, scientists can gain a better understanding of how genetics and ethnicity are related, which will lead to better diagnostics and treatment options. This underscores the importance of events like EDIRA or Equality and Diversity in Research Association. Check out EP15 for more info on EDIRA.
[source one: https://www.ddduk.org/updates.html]
[source two: https://www.ndph.ox.ac.uk/news/5-550-people-diagnosed-with-rare-genetic-diseases-in-major-research-study]
AstraZeneca drops $855 million dollar drugAstraZeneca, a drug company, has abandoned a rare disease drug candidate worth $855 million after two phase 2 trials failed. The drug was originally successful in a larger phase 3 trial, but the company found out that it didn't work as well as they thought. The drug was meant to eliminate copper from the body in patients with Wilson disease, but the phase 2 trials didn't show that it did so. The company decided it would take too long to develop the drug further and decided to stop investing in it.
ConferencesAll-around likable guy, Daniel DeFabio will be at BIO Boston screening five of YOUR rare disease films at the conference. Follow Daniel on Instagram at https://www.instagram.com/disorderrarediseasefilms/.
Incidentally, BIO Boston is also on the Dazzle4Rare Community Calendar. If you’re not already subscribed to the calendar and adding YOUR community events of interest, what are you waiting for?
Visit dazzle4rare.net for the online version of the events and awareness calendars. To subscribe, email me for details.
Solve-RDThe H2020 funded flagship EU project, Solve-RD, is making strides towards solving rare disease mysteries where a molecular cause is not yet known. They’ve achieved a successful Seeding Grant project where they’ve used zebrafish to confirm AMFR as a cause for Hereditary Spastic Paraplegia. You can find this on their website.
The groundbreaking project brings all of us one step closer to finding the answers needed in rare diseases. Learn more about Solve-RD and their ongoing efforts to solve rare diseases at solve-rd.eu.
Can Gene Therapy Help Children Walk?Duchenne muscular dystrophy is a genetic disorder that leads to muscle degeneration, resulting in young patients like Conor in this story requiring full-time wheelchair use by the age of 10 years of age.
However, with a gene therapy from Pfizer due for approval from the Food and Drug Administration next month, the future is looking brighter for children with the disease. The first patient, Conner Curran, underwent the trial treatment five years ago, which triggers muscle cells to produce the dystrophin protein that is essential for muscle function, and has since been able to retain mobility. The gene therapy does not provide a cure, but it does provide a "meaningful benefit" for more than five years, giving the boys the opportunity for a better life.
I say, “boys” here beacause according to “DMD generally affects boys because the dystrophin gene is on the X chromosome. Chromosomes are the parts of your cells that contain your genes. Boys only have one X chromosome.”
[https://www.cedars-sinai.org/health-library/diseases-and-conditions---pediatrics/d/duchenne-muscular-dystrophy.html#:~:text=DMD generally affects boys because,only have one X chromosome.]
Duchenne's affects 12,000 to 15,000 children in the US and 300,000 worldwide. It is usually genetic, passed down from a mother to a son, as the gene sits on the X chromosome, which determines sex. The disease is caused by a mutation in the dystrophin gene, which leads to the inability to produce the essential protein needed for muscle function. Without dystrophin, muscles cannot repair themselves, leading to the accumulation of damage over time.
Four companies are currently developing gene therapies for Duchenne's, and Sarepta Therapeutic's drug SRP-9001 will be the first to be considered by the FDA on May 12th. Although gene therapy is exciting, long-term prognosis for patients remains uncertain as each disease requires a distinctive gene therapy and each company has a slightly different approach. While there is still more work to do, significant improvements have been made in the last eight years, with 50 treatments in the pipeline, promising hope for the future for those affected by Duchenne's.
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host Kimberly on LinkedIn at @kattague.
Welcome to Signalise: a Dazzle4Rare podcast. If this is your first or your fifth episode of Signalise, thanks for taking the time. You could be doing anything right now but you’re here and we appreciate that!
Every month is jam-packed with awareness days, events, and webinars. Wading through all the emails, alerts, and invitations from various organizations like Global Genes, Beacon, Genetic Alliance, and others can be a struggle. And let's not forget YOUR community - your wins, your good news!
We're introducing Rare and Relevant, your TL;DR for all things rare, associated, and noteworthy in a in a quick and easy format. If the term TL;DR is new to you, it stands for "Too Long; Didn't Read."
April is Sarcoidosis awareness month and there are some various national/international days as well. In this episode, Kerry Wong explains.
The Caring Hands Sarcoidosis organization is encouraging individuals to share their stories with the world by sending their pictures, names, and narratives to SarcoidNetwork1@gmail.com or sharing on social media with the hashtag #MakeItVisible.
- Esophageal Cancer Awareness Month
https://www.nhsinform.scot/illnesses-and-conditions/cancer/cancer-types-in-adults/oesophageal-cancer - KIF1A Day
http://kfi1a.org - Hydrocephalus Association Facebook "Breaking Barriers Men’s Talk"
- Hydocephalus Foundation in May "Bench to Bedside: How does a drug treatment get made?”
- United Leukodystrophy Foundation event “Caregiver Online Support Group."
- The Disability Badge Ban and Judy Dench
- CRISPR Therapy Cured a Woman's Genetic Disease
- Mom Diagnosed with End-Stage Uterine Cancer After Years of Misdiagnosis
- Sims 4 Medical Wearables for Players
- Samaritans Available 24 hoursUK Tel. 116 123
- Text SHOUT to 85258 from anywhere in the UK, anytime, about any type of crisis.
- 112 is the only number you can use to access the emergency services in all EU countries.
- If you or someone you know is in crisis in the US, call 911 or go to the nearest emergency room. You can call 1-800-273-TALK (8255) to reach a 24-hour crisis center, or text MHA to 741741 at the Crisis Text Line. US residents only.
- 112 is the only number you can use to access the emergency services in all EU countries.
---Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host Kimberly on LinkedIn at @kattague.
In today’s episode of Signalise: a Dazzle4rare Podcast, I’m taking us down a familiar path that is well-known but perhaps less traveled – creating accessible content online.
If it's not the top of your mind, it's not on the top of your list. This episode breaks down the guilt and shame we may feel when created content online that isn't always accessible, even with the bare minimums covered. No shade. No shame. Just an open, honest conversation starter about creating website content and other digital or print content that helps more people access your community, as well as the education and support you have to offer.
Below are some of the links to information mention in this week's episode.
- AbilityNet Survey
- Georgetown University statistic
- NIH statistic
- LD Online statistic
- CDC statistic
- W3C Web Content Accessibility Guidelines
- Google Lighthouse Extention
- WAVE Browser Tool
- AChecker Tool
- aXE Dev Tools for Accessibility
- Colour Contrast Analyser
Remember, while these tools can be helpful in identifying accessibility issues, they do not replace a comprehensive accessibility audit conducted by an experienced accessibility consultant.
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host Kimberly on LinkedIn at @kattague.
Welcome to this episode of Signalise: a Dazzle4Rare podcast. Today, we’re traveling the road to EDIRA.
While EDIRA may sound like a fantasy realm, a golden landscape where triumph, resilience, and hope hang in the air, it is very much real.
In the face of adversity, rare disease communities continue to perservere, despite circumstances in which their voices are not always heard or valued. Communities have been looking for a way, a place, to find Equality and Diversity in rare disease spaces with research and clinical trial participation as well as in drug development, having a place at the proverbial table. While big stakeholders across healthcare centered spaces are starting to understand the importance of patient inclusion, there is still a disparity between what is logically known about including patients versus what they are doing to ensure unique patient perspectives are included.
As Sam so aptly said during the Rare Disease Day live stream, "We are the experts in our own conditions." EDIRA is a step towards including patients as experts in their own conditions, and it is a step towards a brighter, more inclusive future.
Episode resource links:
- Spectrum 10k Consultation
- Update: Statement on NHLBI decision to resume participant enrollment in the Pilot and Feasibility Study of Hematopoietic Stem Cell Gene Transfer for Sickle Cell Disease
- Full "Road to EDIRA" Live Stream Webinar on Rare Disease Day
- EDIRA Event Brite tickets
- Sponsor: Costello Medical "Giving Back" programme
- Sponsor: COUCH Health
- Speaker: Dr. Natasha Radcliffe
- In-Conversation with Elizabeth Davenport
- In-Conversation with Hazel Kim from Chinese Autism UK
- Event Ambassador: Glenn Webbe
---Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host Kimberly on LinkedIn at @kattague.
Finally, the day many of us have been waiting for … the 28th of February. Rare Disease Day.
We all think we know all about Rare Disease Day but let’s take a trip in the Way Back Machine and look at this days modest beginnings.
NCBRS
https://www.facebook.com/ncbrsworldwidefoundation/posts/pfbid02cpbnwheAXvtAw2mjV4ffhVg6Au7ML56emwDAiSQVgSDpUV7CXsGWgPByXE6r8brMl#
Willis Family Statementhttps://www.theaftd.org/mnlstatement23/
"End of Amazon Smile [...]" Global Genes Letterhttps://globalgenes.org/blog/end-of-amazonsmile-program-impacts-non-profits/?utm_source=twitter&utm_medium=social&utm_campaign=amazonsm
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host Kimberly on LinkedIn at @kattague.
As promised in EP15 we present this full unedited audio of Kimberly's informal chat with Lauren McDermott, Stiff Person Syndrome "Lone Wolf" advocate. Preserved in this chat are moments of brainfog which we both felt was important to share with others. The chat also captures the bouncing around that can often happen with chronic illness and brainfog, revealing what chats like this can sound like without the fancy editing.
Fellow "Lone Wolf" advocate Lauren McDermott joins us to talk about her atypical SPS diagnosis and a bit about SPS.
SPS on NORD - https://www.ninds.nih.gov/health-information/disorders/stiff-person-syndrome#:~:text=Stiff-person syndrome (SPS),can set off muscle spasms
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host Kimberly on LinkedIn at @kattague
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 calling on policy makers and shining the light on people living with a rare disease, collectively we aim to change and improve lives of the 300 million people worldwide.”
We recommend reaching out to your local representative this day. You can find links to representatives and members of parliament below for North America, the UK, and India.
USA - https://www.house.gov/representatives/find-your-representative
UK - https://members.parliament.uk/FindYourMP
Canada - https://www.ourcommons.ca/members/en
India - https://www.india.gov.in/my-government/whos-who/members-parliament
To find out more about the upcoming EDIRA conference, head to http://rareqol.co.uk or follow Dr. Sondra Butterworth via Linkedin.
Kerry Wong from the US Sarcoidosis community, among others, has big news to share with all our rare communities on her Twitter or Facebook page on the 28th in time for RDD 2023.
For all the awareness days mentioned in this episode, head over to the Rare Disease Awareness Days calendar. For the events, head to the Community Events calendar. Both are available on iOS, Android, and most devices in your calendar application.
As many of you will already have heard, beloved French Canadian singer Celine Dion announced her rare disease diagnosis in December 2022. Stiff Person Syndrome (SPS) patient and "Lone Wolf" advocate Lauren McDermott joins us to talk about her atypical SPS diagnosis. To learn more about SPS, you can find detailed information on the National Institutes of Health website.
Look for a bonus episode later with Lauren where we casually chat about her diagnosis and her journey with SPS.
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host Kimberly on LinkedIn at @kattague.
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.
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 networking campaign. She has collaborated with Medics4RareDisease and participated in many rare disease consultations and other collaborative projects. You can find Dr Butterworth on LinkedIn and through the RareQol website. You can reach out to the team at RareQol at info@rareqol.co.uk. --
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host Kimberly on LinkedIn at @kattague.
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 of today's rapidly changing social media environment. How will these changes to algorithms and platform acquisitions affect #URCIID communities?
Listen to this week's episode to find out more.
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter . You can find host Kimberly on LinkedIn at @kattague.
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 more. From all of us at the Signalise family, we thank you for your support in helping us support rare disease patients and organisations by sharing their news, events, and personal stories. If you'd like to continue to support what we do, please share this episode with a family member or friend! Even better, share on your social media and tag us! ---
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host Kimberly on LinkedIn at @kattague.
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 DeFabio is a Menkes disease Dad, rare disease advocate, and Producer for DISORDER: The Rare Disease Film Festival, among so many other projects! He has a long history of engaging audiences with online content creation. In this episode, we touch on grief, its appearance in the Marvel Universe, and the art of rare disease storytelling. Signalise listeners are also treated with a big announcement for a new show launching in December 2022 on The Disorder Collection channel.
Since his entrance into rare disease life with the birth of his son in 2008, Daniel created the Rare Disease Film Festival with Bo Bigelow and co-hosts Once Upon a Gene TV with host Effie Parks and co-host Bo Bigelow. You can find more content on rare disease parenting, the loss of a child, and more below. You can learn more about Daniel and his projects on Facebook, Instagram, or find Daniel on LinkedIn.
---Blog Post:
“The evidence of my son’s impact”
Daniel's Disorder Collection Profile: https://www.thedisordercollection.com/danieldefabiospeaker
Once Upon a Gene TV EP5
https://youtu.be/7DkLH8_hu5o
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host Kimberly on LinkedIn at @kattague.
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 "Metaverse" or "Web3" and how it could benefit Rare Disease patient communities.
RRM Article
https://rarerevolutionmagazine.com/merging-the-metaverse-and-the-rare-disease-community-join-the-conversation/
Contact Sean: https://www.rarefundingteam.com/contact
Sean Gordon's social media
Linkedin - https://www.linkedin.com/in/sean-gordon-a510609/
Facebook - https://www.facebook.com/Rarefundingteam
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter . You can find host Kimberly on LinkedIn at @kattague.
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 ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook, Instagram, Twitter, and Pinterest. . You can find host Kimberly on LinkedIn at @kattague
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.
Learn about World NET Cancers this month by visiting this website.
⬇️
https://www.neuroendocrinecancer.org.uk/.
If you're interested in where rare disease communities online may be heading in the future, check out Sean Gordon's quarterly article in RareTech for Rare Revolution Magazine here.
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook, Instagram, Twitter, and Pinterest. . You can find host Kimberly on LinkedIn at @kattague
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 Street Hospital to make an NCBRS diagnosis. This type of examination has helped medical professionals identify genetic conditions for decades, if not centuries.
Disclaimer:
I am not a medical professional. Nothing discussed in this episode should be taken as definitive or comprehensive information. No content presented here is to be considered advice or diagnostic. The purpose of this episode is to open a dialog to discussion, education, and awareness. If you have any concerns about yourself or a loved one, speak to your medical practitioner immediately.
EP4 - Lee Reavey, Co-Founder and CEO of the NCBRS Worldwide Foundation https://signalise.podbean.com/e/lee-reavey-ncbrs-worldwide-foundation/
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook, Instagram, Twitter, and Pinterest. . You can find host Kimberly on LinkedIn at @kattague
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: actors with rare conditions in the sci-fi and horror genres, problematic films depicting rare conditions, some tips for your trick-or-treat journey, and some corny jokes sprinkled in!
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook, Instagram, Twitter, and Pinterest. . You can find host Kimberly on LinkedIn at @kattague
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.
⬇️⬇️
NCBRS website - https://bit.ly/3S5S8uY
NCBR patient registry - https://bit.ly/3D7FJ5g
Facebook - https://www.facebook.com/ncbrsworldwidefoundation
Twitter - https://twitter.com/ncbrsfoundation
Instagram - https://www.instagram.com/ncbrs/
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook, Instagram, Twitter, and Pinterest. . You can find host Kimberly on LinkedIn at @kattague
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 their links 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 together to help increase awareness? Listen to hear more about how social media helps make these critical connections.
Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook, Instagram, Twitter, and Pinterest. . You can find host Kimberly on LinkedIn at @kattague
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 episode, we're glad to welcome friend, advocate, and parent, Sam Fillingham. Sam is the Founder of PIP UK. According to their website pip-uk.org, "many children are born in the UK and across the world with a rare syndrome called Poland Syndrome. Very little is known about Poland Syndrome and it’s hard to find the right people in the know in the medical community."
Sam shares a bit about Poland syndrome, how they got started, and their new patient registry, changing the lives of patients far and wide.
Don't miss an episode of Signalise! Be sure to FOLLOW or SUBSCRIBE via your podcast app of choice. You can also follow Signalise news on @Dazzle4Rare on Facebook, Instagram, Twitter, and Pinterest. You can find Kimberly on LinkedIn at @kattague.
Join the community register ➡️ https://pip-uk.org/poland-syndrome-community-register Learn about the clinic ➡️ https://pip-uk.org/poland-syndrome-clinic Case study ➡️ https://bit.ly/3EmA3Wb
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: https://rarediseases.org/rare-diseases/ehlers-danlos-syndrome/
Don't miss an episode of Signalise! Be sure to FOLLOW or SUBSCRIBE via your podcast app of choice. You can also follow Signalise news on @Dazzle4Rare on Facebook, Instagram, Twitter, and Pinterest. You can find Kimberly on LinkedIn at @kattague.
____________
More about Dazzle4Rare
Dazzle4Rare is a cross-community undiagnosed and rare disease awareness week. Unlike most awareness events, this week is meant to enable rare disease communities of all sizes share messages for one another, signal boosting the messages to reach a wider audience. The base concept is simple – when you share for another community, they are able to reach your audience who may benefit from hearing their message or learning more about that. In doing so, others will share YOUR message enabling you to reach an audience you would not normally.
Official website: https://www.dazzle4rare.net/
Welcome to Signalise: The podcast from Dazzle4Rare. This is the place where we Signal boost rare stories and turn up the volume on the voices of those with rare diseases.
This is a brief trailer episode, which explains more about the content planned for the upcoming episodes. You'll hear more about Kimberly, her rare disease, and her reasons for launching Signalise.
Here's some more about Kimberly's rare condition: https://www.nhs.uk/conditions/ehlers-danlos-syndromes/
Please remember to FOLLOW or SUBSCRIBE on your podcast app, so you never miss an episode.
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More about Dazzle4Rare
Dazzle4Rare is a cross-community undiagnosed and rare disease awareness week. Unlike most awareness events, this week is meant to enable rare disease communities of all sizes share messages for one another, signal boosting the messages to reach a wider audience. The base concept is simple – when you share for another community, they are able to reach your audience who may benefit from hearing their message or learning more about that. In doing so, others will share YOUR message enabling you to reach an audience you would not normally.
Official website: https://www.dazzle4rare.net/