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/

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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.

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.

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.

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.

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.

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.

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.