Written by: mejo
When you’re living with a condition that fewer than 20 people in the world share, it can feel isolating—like carrying a secret that no one else can understand. For Jonathan, that was the reality of growing up with 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency), an ultra-rare metabolic disorder that disrupts the body’s ability to produce ketone bodies, essential for energy during fasting or illness. But while his rare disease shaped his life in many ways, it never defined his spirit.
Today, Jonathan is 25, thriving in the media and entertainment industry, and using his voice to inspire and advocate for others in the rare disease community. His story is one of resilience, family, advocacy, and the power of community.
The Day Everything Changed
Jonathan’s story begins on December 19, 2000—a date forever etched in his family’s memory. That morning, his mother found him unresponsive in bed, his face turning blue. In a frantic rush, she called 911, trying desperately to clear his airway while paramedics arrived. His blood sugar had plummeted to a life-threatening 15, and despite the medical team’s best efforts, they struggled to find a vein for an IV, ultimately resorting to a bone marrow puncture to deliver life-saving fluids.
At the hospital, Jonathan was diagnosed with hypoglycemic coma, but doctors couldn’t explain why it happened. It wasn’t until weeks later, in January 2001, that he received a diagnosis: a long-chain fatty acid oxidation disorder. For nearly two decades, Jonathan lived with this diagnosis, navigating life with uncertainty but also resilience. Then, in 2019, advanced genetic testing revealed the true cause—HMG-CoA synthase deficiency.
A Family's Fight for Change
Jonathan’s medical journey didn’t just impact his health—it ignited a movement. His mother, driven by the fear no parent should face, became a fierce advocate for newborn screening. At the time of Jonathan’s birth, Connecticut’s screening panel was limited, missing conditions like his. After reading an article on newborn screening, Jonathan’s mother sprang into action. Her brother, a state senator, helped push for legislative change. By 2002, the Connecticut Newborn Screening Law was passed, expanding the panel to include over 60 conditions today.
Her advocacy didn’t stop at the state level. Partnering with the March of Dimes and Senator Chris Dodd, Jonathan’s story helped influence the federal Newborn Screening Saves Lives Act of 2007. For Jonathan, advocacy wasn’t just something his family did—it was part of who they were.
The Challenge of Growing Up Rare
Living with a rare disease as a young adult is layered, Jonathan explains. “There’s deep gratitude for the community I’ve found, but during flare-ups, it’s hard not to feel frustrated.”
As a child, he received occupational, physical, and speech therapies, struggling with fatigue, low blood sugar, and the invisible symptoms of his condition.
“I looked typical on the outside, but my body was fighting a hidden battle.”
School was filled with small but painful reminders of his differences. From needing constant access to Gatorade for his blood sugar to explaining frequent absences, Jonathan often felt the pressure to blend in. “I’d make up excuses to avoid talking about my health. I even said I had an asthma attack—before I was ever diagnosed with asthma!” he laughs.
But college was a turning point. Surrounded by new people and perspectives, Jonathan found his voice.
“I realized my story mattered—not just to me, but to others navigating their own rare journeys.”
A Day in the Life: Managing the Unseen
Today, Jonathan’s life looks “typical” on the surface: he works full-time, lives independently, and starts each morning with a big cup of coffee and New York Times games. But beneath that routine is a carefully managed health regimen.
His condition requires strict dietary control—no more than 40 grams of fat daily, careful monitoring of blood sugar levels, and medication for related conditions like asthma and ulcerative colitis. Organizing his medications alone is a monthly marathon, sorting over ten prescriptions to manage his health.
Mental health care is just as vital. Jonathan attends therapy bi-weekly, walks daily for exercise, and even prioritizes skincare as a form of self-care. “Living with a rare disease isn’t just about physical health. Mental and emotional well-being are just as important.”
How mejo Became a Game Changer
Before discovering mejo, Jonathan relied on scattered notes and documents to track his medical information—a stressful task when juggling multiple specialists across different health systems.
“When I found mejo, it was a game-changer,” he says. “I could keep my medications, provider contacts, and health information in one place. It’s like having a personal health assistant in my pocket.”
mejo proved invaluable during a health crisis in 2023. After catching a stomach bug, Jonathan found himself in the ER, overwhelmed and frustrated as he waited hours without being seen. But when the medical staff finally needed his medication list, mejo was there—organized, accurate, and ready to share.
“It saved me from having to recall everything on the spot, which is nearly impossible when you’re not feeling well.”
Finding Purpose in the Rare Disease Community
Jonathan’s journey has come full circle—from a child hiding his rare disease to an advocate using his voice to inspire others. Through his podcast, work with the EveryLife Foundation for Rare Diseases, and advocacy efforts, he’s built a platform to share not just his story but the stories of countless others in the rare community.
“Involvement in the rare disease community isn’t one-size-fits-all,” he says. “For me, it’s storytelling. For others, it might be policy work, art, or simply supporting someone they love. Everyone has a seat at the table.”
His advice to others navigating their own rare journey? “Find your niche and embrace it. Rare diseases don’t care who you are or where you’re from, but the rare disease community will always welcome you.”
Jonathan's Favorite mejo Feature
While mejo offers many tools, Jonathan’s favorite is the medication and provider section. “It’s such a relief to have all my specialists listed with their contact info and my medications documented with dosages. Whether I’m at an appointment or need a refill, I have everything at my fingertips.”
For patients managing complex conditions, that kind of organization isn’t just convenient—it’s life-saving.
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