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

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

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

Dr Sondra Butterworth is a visionary leader and advocate for equality, diversity, and inclusion (EDI). Sondra’s work is particularly focused on inequalities within health and social care sectors for rare disease patients and communities in the global majority (ethnic minority). 
 
As a British born black black woman, with Afro-Caribbean roots tracing back to St. Kitts, Sondra's parents moved to the UK as part of the Windrush generation.  They instilled in Sondra a strong work ethic, and a sense of resilience, community empowerment, and a passion for humanitarian work.
 
As one of the very few black Community Psychologists in the UK, Sondra brings her expertise in mixed-methods research, education, and EDI to lead groundbreaking initiatives like EDIRA (Equality, Diversity, and Inclusive Research Association) EDIRA Academy: which is an online platform for learning and networking, RCNet (RareQoL Community Network) and MELD (Minority Ethnic Leadership Development). Sondra's work has impacted countless individuals by advancing initiatives to improve health equity and address barriers to inclusion. 
 
Sondra was recently recognized with the prestigious Best DEI Social Enterprise Founder 2024 (UK) title by the Global CEO Excellence Awards, solidifying her role as a trailblazer in DEI and social enterprise leadership. This award celebrates her tireless dedication to building more inclusive frameworks within research, healthcare, and social services. RareQoL Consulting offers consultancy services to not-for-profit organizations, healthcare providers, and the pharmaceutical industry. 
 
 
Celebrating the ‘Doers’ Event
 
Join Us at ‘Celebrating the Doers’ Event – November 7, 2025
Dr. Butterworth and EDIRA Partners will host the ‘Celebrating the Doers’ event on November 7, 2025, at the University of Birmingham, UK. This event, a hallmark of EDIRA's mission, shines a spotlight on individuals and organizations that are actively driving positive change in research and social care. Attendees will have the opportunity to engage with EDI professionals, policymakers, and community leaders to discuss best practices, celebrate achievements, and network with others passionate about inclusion.
 
For more information about Dr Sondra Butterworth and her groundbreaking work with RareQoL and EDIRA, or to attend the ‘Celebrating the Doers’ event, visit EDIRA. https://rareqol.com/edira-2/
 
Consultancy Services
 
Sondra’s ability to understand the complex dynamics of diversity and inclusion has made her a sought-after consultant, known for her clear, actionable strategies.
Whether your organization is looking to improve its EDI framework, engage in inclusive research, or develop leadership programs, Dr. Butterworth is ready to provide support that drives real, lasting change. Get in touch today to discover how her consultancy services can help your organization achieve its goals.
For more details on how Dr. Sondra Butterworth can support your organization, visit https://rareqol.com/rareqol-consulting/



Sondra Butterworth, CEO & Founder of RareQoL and EDIRA

Rucha Shah attained her Master of Science degree in Clinical Research Organization and Management from the Drexel University School of Medicine in Philadelphia, PA. She further completed certificate coursework in Advancing Health Equity from ECOG-ACRIN Cancer Research Group and Research Advocacy Network as well as certificate coursework in Artificial Intelligence in Pharma and Biotech from the Massachusetts Institute of Technology. Currently, Ms. Shah works as a clinical research project manager within the oncology space, an area in which she has a decade of experience. She has proven experience in managing study teams and study sites as well as working collaboratively with various functional teams to meet study deliverables.

Additionally, Ms. Shah’s passion lies in advocating for accessible healthcare and improving health outcomes for the broader patient community, especially the next generation of patients.  Currently, Ms. Shah leads an advocacy group for patients and caregivers at the Children’s Hospital of Philadelphia and the Hospital of University of Pennsylvania. She also collaborates with like-minded organizations and pharmaceutical companies on bringing forth initiatives which make meaningful connections within the disease community, improve the quality of life for patients and to increase awareness within the larger community. She strives to apply the "lessons learned" from her patient advocacy experiences to her professional work by building the trials to be more patient centric and accessible.

Recent Works: Woolford T, Andemariam B, Blaylark R, Colasanti R, Shah N, Jonassaint C, Trimnell C, Sheth S, Davis J, Gallagher E, Zaidi AU, John H, Shah R. Setting Industry Standards for Patient Engagement, Partnership and Care: The Patient Vision Project. Poster and Oral presentation at NORD. October 16, 2023. Washington DC, USA.


Rucha Shah, Clinical Research Manager & Advocate

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

Eva Hoytema van Konijnenburg and Clara van Karnebeek tell the podcast about the treatabolome an epic project to include all current IMD treatments and add them to the IEMbase. 

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!
Bibiche den Hollander, et al
https://doi.org/10.1002/jimd.12835

The Treatabolome: Don't miss the chance to treat!

In this Metabolic Mystery, Dr Eamon McCarron unravels an unexpected diagnosis in a 55-year-man with a 2-year history of dragging his legs, poor balance, and paresthesia along the outer aspect of his right thigh. He underwent various assessments and investigations over the next 3 years before a diagnosis was made. 

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.64031#

Metabolic Mysteries: New weakness, poor balance and paresthesia at 55 years of age

Dr Carole Linster and Dr Nicole van Bergen explain why metabolism isn't perfect and how disorders of enzyme repair present their own challenges. In an episode that explores Niacin and longevity, we also hear why NAXD deficiency is an important differential in acute cardiomyopathy and provides an aetiology that could be highly amenable to treatment. 

Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency
Nicole J. Van Bergen, et al
https://doi.org/10.1002/jimd.12541

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses 
Nicole J Van Bergen, et al
https://doi.org/10.1093/brain/awy310

Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma
Nicole J Van Bergen, et al
https://doi.org/10.3390/ijms24043582

NAXD deficiency

This week on 40 Years to Freedom, Brittany shares her eye-opening two days at the Nevada Legislature, fighting for policies that could change the lives of disabled and medically complex families. From giving testimony to navigating the challenges of advocacy, she takes us behind the scenes of what it takes to push for real change. Meanwhile, Jen dives into her powerful ladies’ weekend, where vision boards, faith, and intentional manifestation set the stage for a future filled with purpose. Tune in as we explore the intersection of action and belief—fighting for what matters while speaking life into the dreams we’re meant to chase.

E68 - Fighting For Change & Speaking Life Into Existence

Meet Jen & one of her long time friends, Brittany. Two hardworking mamas who have been through a little bit of a lot. 40 years to freedom is a lifestyle podcast about overcoming obstacles, owning their worth, feeling free to be who they truly are, loving themselves and those around them and rolling with the punches of day to day life. Jen navigating raising teen twin boys and doing the best for them in hopes that they will grow into even greater men. Brittany just starting this motherhood journey is ready for this new ride in life. Hoping to raise a happy, well balanced young lady in todays new world. 
Join Jen and Brittany on this new passion of podcasting. They are creating something relatable, funny, and hope to grow along the way, while making a difference or hoping someone out there listens and can feel like they understand the shoes they’ve walked in or feel like one of their friends with their different perspective of this thing called life. Join Jen and Brittany weekly as they share their experiences, have adventures, enjoy local conversation, pop around the local community, talk about things Northern Nevada related, meet new people, culture, and owning who they are while feeling free despite the curveballs life throws at them.

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