Annie-Danielle Grenier raises awareness and advocates for rare diseases, living with a few herself.

She mostly does this as a writer, public speaker and through her blog turned website: Ma vie de zèbre (My Zebra Life). Annie-Danielle launched Ma vie de zèbre in 2013 because she had difficulty finding information in French on hypermobile Ehlers-Danlos syndrome, her only rare diagnosis at the time, and what little she could find wasn't relatable to her province of Québec (Canada). She wanted to changed that!
 
Annie-Danielle is very active as a patient partner, involved in many management, education and research projects and doing things like shaping policies, educating future healthcare professionals, working in bioethics research, and much more.
 
Annie-Danielle was a translator and editor (in French and in English) and before that worked many years in show business (on stage but also behind the scenes). She has a bachelor's degree in psychology, but also studied in Arts and literature and in event production.
 
Annie-Danielle's atypical life experiences give her a different view on things, which she loves to share with people and, she hopes, can inspire. Her motto is that life's obstacles are not obstacles to happiness!

Business and collaboration offers can go through here: Annie-Danielle Grenier raises awareness and advocates for rare diseases, living with a few herself.
She mostly does this as a writer, public speaker and through her blog turned website: Ma vie de zèbre (My Zebra Life). Annie-Danielle launched Ma vie de zèbre in 2013 because she had difficulty finding information in French on hypermobile Ehlers-Danlos syndrome, her only rare diagnosis at the time, and what little she could find wasn't relatable to her province of Québec (Canada). She wanted to changed that!
 
Annie-Danielle is very active as a patient partner, involved in many management, education and research projects and doing things like shaping policies, educating future healthcare professionals, working in bioethics research, and much more.
 
Annie-Danielle was a translator and editor (in French and in English) and before that worked many years in show business (on stage but also behind the scenes). She has a bachelor's degree in psychology, but also studied in Arts and literature and in event production.
 
Annie-Danielle's atypical life experiences give her a different view on things, which she loves to share with people and, she hopes, can inspire. Her motto is that life's obstacles are not obstacles to happiness!

Business and collaboration offers can go through here. Annie-Danielle Grenier raises awareness and advocates for rare diseases, living with a few herself.
She mostly does this as a writer, public speaker and through her blog turned website: Ma vie de zèbre (My Zebra Life). Annie-Danielle launched Ma vie de zèbre in 2013 because she had difficulty finding information in French on hypermobile Ehlers-Danlos syndrome, her only rare diagnosis at the time, and what little she could find wasn't relatable to her province of Québec (Canada). She wanted to changed that!
 
Annie-Danielle is very active as a patient partner, involved in many management, education and research projects and doing things like shaping policies, educating future healthcare professionals, working in bioethics research, and much more.
 
Annie-Danielle was a translator and editor (in French and in English) and before that worked many years in show business (on stage but also behind the scenes). She has a bachelor's degree in psychology, but also studied in Arts and literature and in event production.
 
Annie-Danielle's atypical life experiences give her a different view on things, which she loves to share with people and, she hopes, can inspire. Her motto is that life's obstacles are not obstacles to happiness!

Business and collaboration offers can go through here: https://www.adgrenier.com/en/

Annie-Danielle Grenier, patient advocate

Sean Wachter's life is a remarkable narrative of resilience, determination, and transformation. After overcoming a life-changing accident, Sean faced a grueling health battle that led to the discovery of a golf ball-sized lesion in his cerebellum. Despite a challenging journey through misdiagnosis and the eventual confrontation with Stage 4 melanoma, including brain metastases and leptomeningeal disease, Sean's spirit remained unbroken.

An accomplished former two-sport collegiate athlete and professional football player, Sean has channeled his relentless energy into professional wrestling, turning it into a platform for raising awareness and funds for cancer research. His return to the ring is not just a personal triumph but also a powerful gesture of defiance against his medical challenges.

Beyond the ring, Sean's endeavors extend to significant charitable work. He collaborates with notable organizations like The V Foundation, the Melanoma Research Alliance, and Memorial Sloan Kettering Cancer Center, contributing to brand awareness and fundraising efforts. His journey is a poignant reminder of the power of resilience and the profound impact one can have in the face of adversity.

Sean's story, highlighted by his remarkable return to professional wrestling, is a testament to the strength of the human spirit. He embodies the essence of not just surviving but thriving, inspiring countless others with his journey.

Sean Wachter, patient advocate

When might acute liver failure have a metabolic cause? Dr Robert Hegarty tries to answer this question and more following his recent review article on Genetic aetiologies of acute liver failure.

Genetic aetiologies of acute liver failure
Robert Hegarty, Richard J. Thompson
https://doi.org/10.1002/jimd.12733

Acute liver failure? Think metabolic

Based in Colorado, Risa August is an author, Speaker, Gestalt practitioner and Patient Advocate for rare pituitary diseases. She has been sharing her story for the past five years, and more recently in her memoir The Road Unpaved – Border to Border with a Brain Tumor and a Bike. In addition to speaking at conferences for leaders in pharmaceuticals, medical professionals, and patients, her work is published on blogs and in other smaller publications. Her most popular personal essay, “Marshmallow Clouds,” has been translated into Spanish. Through her personal transformation, Risa has learned and practiced removing limiting beliefs, shifting her perspective, and embracing a full life.

Risa has a B.A. in geography, a certification in the Gestalt Coaching Method, and a certificate in mindfulness-based cognitive therapy. She has been living with a pituitary tumor and rare disease for over a decade and offering words of inspiration and information to audiences in hopes of saving others from heading down a bumpier road.

A girl with sparkles in her hair and once an Ironman athlete, Risa still has a passion for her bike and barbells. With her genuine curiosity and love for trying new (and old) things, you may find Risa taking Bollywood or hip-hop dance lessons, trying a silks aerialist or boxing class, going indoor skydiving, or guiding an inspirational workshop in creativity.

Risa August, patient advocate

Today we are bringing you a conversation between 3 experts on paroxysmal nocturnal hemoglobinuria (PNH). 

Ryan Haumschild, PharmD, MS, MBA, vice president of Pharmacy at Emory Healthcare and Winship Cancer Institute, spoke with Jamie Koprivnikar, MD, of John Theurer Cancer Center; David Dingli, MD, PhD, of Mayo Clinic; and Brian P. Mulherin, MD, of American Oncology Network.

The topics of conversation for today’s podcast include the pathophysiology of PNH, complement inhibitors, treatment strategies, and the challenges of managing this rare, life-threatening disorder.

Managed Care Cast Presents: Challenges of Diagnosing and Managing PNH

In June 2023, Teach RARE joined an event in Taiwan that brought together 30 families with the ultra-rare neurotransmitter disease AADC deficiency. In attendance was Prof. Hwu, a pediatrician and geneticist whom all the families knew very well.

Dr. Hwu led the research for a gene therapy known as Upstaza, which is currently approved in the EU and UK and, hopefully very soon, the rest of the world.

During the event, we were able to interview Prof. Hwu for a few questions regarding the past and future of AADC deficiency. Full details on the event: https://teachrare.org/prof-hwu-discusses-the-past-and-future-of-aadc-deficiency/

Interview with Prof. Hwu on The Past and Future of AADC Deficiency

Article: https://teachrare.org/canadian-mom-journey-in-the-aadc-deficiency-community/
Being part of the ultra-rare disease community of AADC deficiency, we understand the challenges of making connections. These connections become even more complex when we are scattered across the globe, with language and timezone barriers. Yet, as parents of a child with AADC deficiency, we refuse to let these obstacles hinder our connections.

Our acquaintance with Elise and her son, Malo, has been a significant part of our journey. They reside in the French-speaking region of Canada, and we relied on Google Translate for communication. There's an immediate connection with any parent of a child with AADC deficiency, but Elise's story was uniquely relatable, instantly forging a strong bond between us.

Malo - Aadc - Bridges - Over - Barriers - English - Podcast

Professor Judy Fridovich-Keil returns to the podcast to explain her work to illustrate whether the phenotype of galactosemia is related to GALT activity or galactose metabolism. Her group have been working with plant enzymes in fruit flies. 

Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT-null D. melanogaster model of classic galactosemia
Jennifer M. I. Daenzer, et al
https://doi.org/10.1002/jimd.12774

Flies, plants and classic galactosemia

Full Story: https://teachrare.org/island-hopping-for-answers-and-treatment/
A mother from the Philippines recounts her journey of traveling between islands in the Pacific in search of answers, ultimately finding treatment for her son, who suffers from a rare disease known as aromatic l-amino acid decarboxylase deficiency.

Island Hopping For Answers and Treatment Podcast

VALE Designs is at the forefront of providing practical, comfortable, and stylish clothing solutions for children with rare diseases. Their high-quality adaptive clothing addresses the unique challenges faced by these children, enhancing their quality of life and easing the burden on families and caregivers. Through their innovative approach and community involvement, VALE Designs significantly impacts the world of adaptive clothing and rare disease care.

Read the full story: https://teachrare.org/vale-designs-adaptive-clothing-rare-disease/

VALE Designs Adaptive Clothing - RARE Voice Podcast

Dr Melanie Gillingham, PhD, RD, joins the podcast to discuss eye disease in LCHADD and changes in outcomes following early or late diagnosis. 

Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy
Melanie B. Gillingham, et al
https://doi.org/10.1002/jimd.12738

Chorioretinopathy In LCHADD

Professor Carlos Ferreira joins Eva Morava to discuss the metabolic cardiovascular disease and explain why cardiac involvement is common in IMDs and when an underlying metabolic should be suspected in a cardiac presentation.

Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2020.12.290

Find IMDs associated with epilepsies at: http://www.iembase.org/gamuts/store/docs/GAMUTS_Supplemental_table%202_footprints_4_181220.pdf

Footprints of IMD: Metabolic cardiovascular disease... with Carlos Ferreira

Callie Ferguson discusses her group's care for a young woman with FBPase deficiency during pregnancy and beyond. 

Metabolic management of a successful pregnancy and postpartum complications in fructose-1,6-bisphosphatase deficiency
Callie Ferguson, Anita Madison, Ada Hamosh, Celide Koerner
https://doi.org/10.1002/jmd2.12453

Shortcast: Metabolic management of a successful pregnancy in FBPase deficiency

Dr Hannerieke van den Hout of Erasmus MC joins the podcast to discuss observations from two decades of early treated infantile onset Pompe disease and the evolving nature of the neurological phenotype.

Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning
van den Dorpel, et al
https://doi.org/10.1002/jimd.12736

Brain changes in infantile Pompe disease

In the latest podcast, Dr Lourdes Desviat provides an overview of the different RNA based therapeutic approaches including how they work and which are showing promise for the management of Urea Cycle Disorders. 

Exploring RNA therapeutics for urea cycle disorders
Eva Richard, Ainhoa Martínez-Pizarro, Lourdes R. Desviat
https://doi.org/10.1002/jimd.12807

RNA based therapies in Urea Cycle Disorders

Educational services and support for children in the rare disease, undiagnosed disease, and special needs communities.

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.

JIMD Podcasts is home to the Journal of Inherited Metabolic Disease podcast and the JIMD Shortcast. We're also proud to showcase Metabolic Mysteries and the new Footprints in IMD podcast.

New tracks tagged #Rare Disease