Beyond the Diagnosis: Meet the Creators Making Their Mark While Living with Organic Acidemias
From wellness entrepreneurship to artistic expression and social media storytelling, members of the organic acidemia community are using their creativity to connect with others and make a difference.
Living with an organic acidemia can present unique challenges, but a diagnosis is only one part of a person’s story. Across the rare disease community, individuals are pursuing their passions, building businesses, creating art, and sharing their experiences with the world.
For some, creating content provides an opportunity to raise awareness about their condition. For others, it is simply a way to express themselves, explore their interests, and connect with people who share their passions.
Meet a few creative individuals who are demonstrating that life with an organic acidemia encompasses much more than managing a medical condition.
Josh Mayfield:
Glutaric Acidemia Type 1 (GA-1) | Gamer, Youtuber, and Patient Advocate
Josh Mayfield is a YouTube content creator living with glutaric acidemia type 1 (GA-1). Through his YouTube channel, MayfieldTV, Josh has created a space to share videos and connect with an online audience.
“Hi! For people who don’t know me and want to know about me and my life, I’m Joshua Mayfield, and I have GA1. I have had GA1 since I was 2 years old, or 22 months old, however you want to say it. I’m not going to put the whole story here. This is about my content creation journey. Let’s start back in 1999, when I started JKMGA1STORY. I just wanted a website to get the word out about GA1, so I started researching it, and with that research, I wrote my own story. My site was on angelfire.com back then. That was my first time making any kind of content. That fast-forwarded to when I uploaded my first video to YouTube. I uploaded a video in 2015 called Josh’s First GA1 Video Blog about my life with GA1 and what I liked to do. You can find content like Glutaric Aciduria Type 1 Story Time: – Join me as I share powerful, inspiring stories about living with glutaric aciduria type 1. Our community offers support, awareness, and strength for those affected by this rare condition. App Reviews for Disabled People: Discover the latest and most accessible apps for individuals with disabilities. I take you through detailed reviews and tutorials to help you make the most of technology for improved accessibility and convenience. Let’s Plays and More: Dive into the gaming world with thrilling Let’s Play sessions and discover more engaging content to keep you entertained. Whether you’re a hardcore gamer or a casual player, there’s something here for you. Don’t forget to hit that subscribe button and ring the notification bell to stay updated with my exciting content. Your input is invaluable to me, so be sure to leave your comments and suggestions. Join me on Mayfield-Tv.com” – Josh
Josh has also been involved with the Organic Acidemia Association for many years. In a personal story previously shared on the OAA website, he described his interest in helping others with rare disorders and his involvement in advocacy efforts that helped advance newborn screening legislation in West Virginia.
Learn more about Josh: Read his OAA story
Bryan Kelly: Promoting Wellness and Mindfulness
Propionic Acidemia (PA) | Wellness Entrepreneur and Patient Advocate
For Bryan Kelly, living with propionic acidemia has helped shape his perspective on mindfulness, personal growth, and wellness.
Diagnosed with PA as an infant, Bryan experienced serious medical complications early in life, including a stroke that required him to use a wheelchair and walker during his recovery. Throughout his life, he has continued to navigate the physical and emotional challenges associated with his condition.
Bryan eventually discovered the benefits of mindfulness, meditation, yoga, and spending time in nature. His interest in these practices inspired him to establish Be Present Lifestyle, a wellness initiative focused on mindfulness and living in the moment.
Through his online presence and participation in rare disease discussions, Bryan has shared his experiences with PA while encouraging others to explore strategies for emotional well-being and personal fulfillment.
He has also appeared on the DNA Today genetics podcast, where he discussed living with propionic acidemia and the importance of connecting with the rare disease community.
Bryan’s story highlights how personal experiences can inspire new passions, entrepreneurial pursuits, and opportunities to support others.
Explore Brian’s work: Mindfulness | Poetry
Learn more about Bryan’s story: Propionic Acidemia Foundation | DNA Today podcast
Heather Matthews: Combining Cosplay, Creativity, and Rare Disease Advocacy
Glutaric Acidemia Type 1 (GA-1) | TikTok Content Creator and Patient Advocate
For Heather Matthews, social media is a platform for both creative expression and rare disease advocacy.
Living with glutaric acidemia type 1 (GA-1), Heather uses social media to share her interests and raise awareness about rare diseases. She manages two TikTok accounts, each highlighting a different side of her life.
On her advocacy account, @delmarvaadvocate, Heather focuses on raising awareness and sharing information around living with a rare disease and disability, being neurospicy, and bullying awareness and prevention. Her content provides an opportunity to educate others and connect with the broader rare disease community.
On her personal account, @heather16.mm, Heather shares content about her life and her passion for cosplay. Through costumes and creative expression, she showcases her interests and personality beyond her diagnosis. Heather has dressed as characters from movies, comics, and animation, including Jack Skellington from The Nightmare Before Christmas, Zatanna from DC Comics, Megara (Meg) from Disney’s Hercules, and an original character from The Nightmare Before Christmas: Jack Skellington and Sally’s daughter.
By maintaining two distinct accounts, Heather demonstrates that rare disease advocacy and personal creativity can coexist. Her content reminds us that individuals living with organic acidemias are more than their diagnoses, with unique hobbies, passions, and talents worth celebrating.
Follow Heather:
Rare disease advocacy Tiktok: @delmarvaadvocate
Cosplay and lifestyle Tiktok: @heather16.mm
Cosplay Instagram: @heather16.mm
Sannae: Sharing Life with MMA on Instagram
Methylmalonic Acidemia (MMA) | Social Media Creator and Patient Advocate
For Sannae, social media is a way to share her experiences, connect with others, and demonstrate that a rare disease does not have to define every aspect of someone’s identity.
Born with methylmalonic acidemia, Sannae experienced numerous health challenges throughout childhood. As a young adult, she underwent a liver transplant and faced additional medical complications during her recovery.
Today, Sannae shares her story and experiences on Instagram, offering followers a glimpse into life beyond her diagnosis.
In addition to her online presence, Sannae has participated in Rare Disease Day campaigns and spoken at events to raise awareness about metabolic disorders. Most recently, she was featured in a national Donor Conversation Week sponsored by the Dutch Transplant Foundation (NTS).
Through her public speaking, storytelling, and advocacy, she hopes to encourage others navigating similar circumstances and remind them that they are more than their medical conditions.
Follow Sannae: @sannae_.official on Instagram | Read her OAA story | Read her Metabolic Support story