Signalise: a Dazzle4Rare Podcast

EP39 Rare and Relevant News Stories of 2023 TL;DR and Update

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 2023https://www.ajmc.com/view/top-5-most-read-rare-disease-articles-of-2023
The 10 Biggest Stories in Rare Disease for 2023https://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’ Documentaryhttps://www.nytimes.com/2023/11/10/us/take-care-of-maya-trial-damages-kowalski.htmlResearching Reform - What Happened to Mayahttps://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 Millionhttps://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 jailhttps://www.nbcchicago.com/news/local/what-did-gypsy-rose-blanchard-do-what-to-know-about-the-case-as-she-is-released-from-jail/3315071/
 
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Bonus: 2024 Podcast Schedule Change

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. 
 
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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.

EP37: Four Paediatric Holiday Cheer Stories and UHC Day 12th December

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).1. International Universal Health Coverage Day: https://www.un.org/en/observances/universal-health-coverage-day 2. Emma's Dravet Syndrome Story: 
https://www.cbsnews.com/philadelphia/news/dravet-syndrome-rare-disease-emma-watson
3. George's Lung Condition: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1403838
4. George's Christmas Celebration:
https://www.coventrytelegraph.net/news/real-life/rugby-boys-first-christmas-without-28203691 
5. Poppy's Musical Tribute: https://www.thetelegraphandargus.co.uk/news/23958762.bradford-teen-re-releases-song-memory-young-relatives
6. Buy a Copy of the Song: https://beyondrecords.uk/
7. Cure 4 The Kids' Challenge:
https://nevadabusiness.com/2023/11/celebrities-come-together-to-support-the-happy-xmas-shout-out-challenge
 
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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.

EP36: Rare and Relevant TL;DR and an Update on ”Take Care of Maya”

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/ 
 
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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.

EP35: November TL;DR Feat. a Message for Menkes Awareness

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
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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.

EP34: 2023 Halloween Special: Reel Struggles On and Off Screen for Rare Heros in Media, Feat. Original Spooky Jokes by Kimberly

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/
 
- The truth about how infections spread:
https://health.clevelandclinic.org/zombie-virus/#:~:text=After%20COVID-19%2C%20the%20thought,truth%20about%20how%20infections%20spread.
 
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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.

EP33: Kimberly Speedruns an October Rare and Relevant TL;DR Plus Network Good News

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/]
 
- Lafora Disease now has unique ICD-10 Diagnostic Codes effective from October 1, 2023. [chelseashope.org/announcing-icd-10-codes-for-lafora-disease/]
- 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]
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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.

EP32: September Rare and Relevant TL;DR and Returning Guest Daniel De Fabio on Global Genes Rare Week 2023

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. 
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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.

EP31: September Awareness Days, NORD Designates New Rare Disease Center, and Listener Voicemails

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
 
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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.

EP30: September’s Awareness Dates, Community Clips, and Global TL;DR News feat. Kerry Wong & Lee Reavey

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)
James Cameron on AI
CNN AI article
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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.