David Law is an internal medicine physician and hospitalist. He is also a musician, an award-winning filmmaker, and most importantly he is a rare disease advocate in honor of his daughter, Violet, who is diagnosed with a progressive neurologic condition, GM1 Gangliosidosis. He lives in Los Angeles with his wife, Dr. Veena Sison, a developmental pediatrician.

Links
The Cure GM1 Foundation: www.CureGm1.org
A Cure for Violet Facebook Page: www.facebook.com/ACureForViolet
GoFundMe: https://www.gofundme.com/f/a-cure-for-violet

My Film page: www.3rdCallProductions.com
"Code"- our award-winning short film on burnout: https://www.youtube.com/watch?v=d9y5yvPsTYw&t=18s

David Law, Physician and rare disease advocate

Vanessa Ferreira is a patient advocate who has committed more than 14 years of professional and personal commitment to patient associations in numerous countries and areas, such as rare diseases and cancer.
She holds an MBA from Sorbonne University Paris and a Ph.D. in cell and molecular biology. She has one sister living with a rare disease called Congenital Disorders of Glycosylation (CDG).
In 2022, she co-founded Humanized Solutions, whose mission is to support different stakeholders by implementing solutions co- created with the patient voice. She is interested in fostering
sustainable collaborations and establishing patient-centricity as a norm for better health outcomes. Since 2021, she has been Chief Engagement & Alliances Officer at Buddy service App. From 2011- 2020 Vanessa worked in the pharmaceutical sector to speed up research and medicines development in coordination with patient groups.
Vanessa Ferreira founded the Portuguese Association for CDG (APCDG) in 2010. In 2016 she implemented the World CDG Awareness Day and she co-founded CDG and Allies, the sole community- centric international research network for CDG. Vanessa's rigorous structure and successful approaches allow her to actively listen to what is essential to families and professionals, ensuring that all projects are co-created with the community. She has a proven track of scientific publications (~30 articles), focused on gathering insights with and for the CDG community. Everything she does is transferable across therapeutic indications. Vanessa initiated the World CDG organization in 2020 with various partners and CDG patient associations (worldcdg.org). She has represented patients in EURORDIS since 2010. She represents CDG as a member of the Steering Committee and Single Point of Contact (SPOC) of the European Reference Network for Hereditary Metabolic Disorders (MetabERN).

Vanessa Ferreira, patient advocate.

Tim McLerran is a physician entrepreneur-turned AI software developer with a mission to bring together human and machine intelligence in day-to-day clinical practice. He co-founded Medical Intelligence One to carry out that mission, and the company is currently building technologies and services that help people obtain diagnoses for rare diseases. The beta version of their rare disease search tool is available for patients and clinicians to try for free at https://www.mi1.ai/enola.

Tim McLerran, Physician entrepreneur-turned AI software developer.

Robin Powers is an expert in Ehlers-Danlos syndrome and other rare connective tissue disorders. She is a  PCORI Ambassador, she is a seasoned advocate for rare diseases and patients with undiagnosed conditions and is also a motivational speaker. She is a researcher and biochemical pharmacologist, earning her degree at Buffalo State College in 2019.

Robin Powers, Patient Advocate.

Dr Sean Froese returns to the podcast alongside Professor Wyatt Yue to discuss cobalamin, crystallography and consuming raw liver. 

The complex machinery of human cobalamin metabolism
Thomas J. McCorvie, et al
https://doi.org/10.1002/jimd.12593

The complex machinery of cobalamin

Merel Post discusses her group's work to describe 6 individuals with MOGS-CDG and the utility of a tetrasaccharide biomarker for confirming diagnosis and possibly for treatment monitoring in future. 

MOGS-CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases
Merel A. Post, et al
https://doi.org/10.1002/jimd.12588

Shortcast: MOGS-CDG: Quantitative analysis of a diagnostic biomarker & phenotype of 6 new cases

Series premiere. On average, it takes nine to fifteen years of untreated illness to be diagnosed with and treated for a Primary Immunodeficiency. Recent studies estimate that 70 - 90% of those with PI do not yet have a diagnosis.

You’re listening to Undiagnosed – an Immune Deficiency Foundation podcast. These are the true stories of the harrowing journey to diagnosis.

Imagine an energetic young girl. As the oldest of four children under the age of five, she’s the caretaker of her siblings. She’s a bit of a teacher’s pet, and has an inquisitive mind. She does well in school despite being constantly on the move as the daughter of a Naval officer. She’s the type of child who goes ice skating in the winter and eats carrots straight from the garden. You’d likely never assume that a debilitating illness would alter every aspect of that young girl’s life – because that illness is invisible to everyone but her.

For that energetic young girl, much of the story of her life would be colored by missed opportunities for proper care… by a complex web of unrelated but entangled health issues that pointed to a larger problem no one would understand for more than six decades.

That young girl is Sandy. This journey is hers.

Your support of IDF helps to ensure that people like Sandy get the advocacy, education, and community support they deserve. To donate, volunteer, or learn more about primary immunodeficiency, visit www.primaryimmune.org.

The views and opinions expressed are not necessarily those of IDF, its donors, employees, or Board of Trustees.

Follow IDF on social media:
YouTube: https://www.youtube.com/channel/UC-e7Jua_piexR70CVoaofYw

Facebook: https://www.facebook.com/ImmuneDeficiencyFoundation/

Twitter: https://twitter.com/IDFCommunity

Instagram: https://www.instagram.com/idfcommunity/?hl=en

Undiagnosed Episode 1: "The Caretaker"

In episode 125, host Kevin Schaefer talks with Brooklyn and Keanna Nichols from Athens, Alabama. Brooklyn is a middle schooler with SMA who co-authored a children’s book called “A Do Nothing Day” with her mom’s cousin. She and her mom talk about inclusivity, living with SMA, and the origins of the book.
  
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To order a copy of the book, email Keanna at robertnkeanna@icloud.com. 

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To take part in our ongoing discussions regarding SMA, please visit http://www.smanewstoday.com/forums

#125: Brooklyn Nichols, child author with SMA, and her mother, Keanna

Dr Nour Elkhateeb describes his group's experience managing a patient with homocystinuria who developed paracetamol toxicity and was subsequently treated with N-acetylcysteine.

Paracetamol toxicity in classic homocystinuria: Effect of N-acetylcysteine on total homocysteine
Nour Elkhateeb, et al
https://doi.org/10.1002/jmd2.12363

Shortcast: Paracetamol toxicity in classic HCU: Effect of N-acetylcysteine on total homocysteine

Ramoeli was born in Lesotho, a country encircled by South Africa, and lives with Ehlers-Danlos syndromes and many other comorbid conditions. This young woman relentlessly fights for improved access to health care for rare disease patients in her home country and shares the story of her path to the diagnosis of EDS diagnosis in the context of  a place where healthcare resources cannot be taken for granted. She established an NGO to help all rare disease patients in Lesotho.

Nthabeleng Paulette Ramoeli,  Patient advocate

The Health Design Podcast brought to you by the Journal of Health Design(www.journalofhealthdesign.com). Features interviews with the world's leading health design experts including clinicians, designers, patients, authors and researchers. Better health by design.

Daily, digital coverage of the latest SMA news and perspectives.

This podcast is a service of the Immune Deficiency Foundation, or IDF, a nonprofit organization dedicated to improving the diagnosis, treatment, and quality of life of people diagnosed with primary immunodeficiency, or PI. 

"Bold Conversations" is a miniseries on The IDF Podcast that explores the harsh realities of health equity in the United States. Hosted by Dr. Nicole Rochester.

"Undiagnosed" is a narrative docuseries on The IDF Podcast that tells the true stories of PI patients and their long journeys to proper diagnosis and treatment. 

To learn more about primary immunodeficiency, the PI community, or to support IDF as a donor or volunteer, please visit the IDF website at www.primaryimmune.org. If you have any questions you would like to be answered, email us at idf@primaryimmune.org.
Special thanks to Bryson Kemp for providing the theme song for The IDF Podcast. www.brysonkempmusic.com

A fortnightly podcast from the Journal of Inherited Metabolic Disease, where authors discuss recent publications from the journal. The podcast is intended for specialists and interested clinicians but is also intended to increase the accessibility of this work for patients and families. Supported by Wiley.

New tracks tagged #Rare Disease