In Honor of JOSH on RARE DISEASE DAY
A Mother’s Story
We share Josh’s story so his life can inspire others – to support families facing Arginase 1 Deficiency, to raise awareness, and to help ensure no child loses precious time waiting for future care.
Josh was more than a diagnosis. He was our son – a tall, charming, handsome young man with a smile that could light up any room. He was also a friend, brother, uncle, and the heart of our family. His smile was infectious, drawing people in instantly. Josh had a contagious laugh, impeccable taste in music, and a way of connecting with people that made everyone feel seen. He danced to his own beat – and once you learned to listen, the music was beautiful.
From the moment he was born in 1997, Josh greeted the world with his smile. In his first three years, he was a sleepy baby, toe walker, didn’t like protein and wasn’t meeting milestones. He was full of energy, moving around like a hyperactive energizer bunny, scattering and toppling over many things in his path, with occasional tripping and falling down. We literally had to have eyes on the back of our heads! These were the early signs that something was different – and he was showing developmental delays.
Right before his third birthday, he had an onset of seizures and elevated liver enzymes, and after extensive testing, we received the diagnosis of Arginase 1 Deficiency at Boston Children’s Hospital. It was rare. It was overwhelming. And it changed the course of our lives.
At that time, newborn screening in Massachusetts did not include Arginase 1 Deficiency. Fifteen months after Josh was born, it was added to the required panel by the Massachusetts Department of Public Health. Early detection can make a difference. Awareness matters.
Every person with Arginase 1 Deficiency has a unique journey. Symptoms vary. Progression differs. Outcomes are not identical. And yet, in so many ways, families share the same experiences — the same questions, the same determination, the same fierce love for their children.
Josh’s life reflects both the individuality and the shared reality of this rare disease.
Life with Arginase 1 Deficiency
Josh was diagnosed at age 3, a time when very little medical literature existed to guide us. We were told his condition was very rare but it could be managed with a strict diet and medications. It became a learning curve navigating nutrition and various behaviors on our own. Despite what the textbooks said, Josh endured numerous hospitalizations for elevated ammonia that required special IV medication to stabilize him. We had to become pioneers in managing his care.
In those early years before diagnosis, elevated arginine had already caused irreversible brain damage — something we only came to understand later.
At age 12, he suffered a metabolic coma, which led to the placement of a G-tube (gastrostomy tube) to help prevent future crises. But even with a strict diet, G-tube, and ammonia scavenger medications weren’t enough. His disease was progressing and by age 16, his seizures returned and it was no longer safe for him to walk unassisted. Josh drifted between periods of fatigue and brain fog. He was no longer “Mr. Energizer” – he became “Mr. Mellow,” requiring a wheelchair and a constant guardian.
Josh’s life is a story of many chapters – filled with heavy challenges, but many more defined by his playful heart and mischievous spark. Between the medical hurdles, Josh celebrated life loudly, possessing a sense of humor truly unmatched.
From a young age, he had a remarkable sense of rhythm and a love for music. He lived for the holidays – especially Christmas with the magic of Santa and the music that filled the air. He never turned away from a birthday celebration, even marking his own milestone with a 22-year-old “pub crawl” – with water shots, of course! One memorable day, he came home with a temporary heart tattoo that said “MOM,” a small but perfect expression of his love. He was the king of selfies and loved slapstick humor as well as dance parties with music that made everyone groove. With a little helping hand, Josh took pride in capturing photos of the scenic places he loved most. Some of his simplest joys were his favorite snacks – McDonald’s french fries, Cheetos, and Funyuns. He welcomed every hug and adored being close to the people who loved him.
Josh was known fondly as “Cowboy,” a nickname he earned from his love of Toy Story.
The Treatment that Gave Us Hope
Unable to participate in the clinical trial, we were left searching for another path forward. In August 2022, after years of managing a disease that never truly rested, we were given an opportunity that felt like a turning point. Josh became the first person approved to receive Pegzilarginase through a single-patient Investigational New Drug (IND) pathway.
It was hope.
During the eight months he was on treatment, we saw changes we had been waiting decades to see. His energy improved, his walking became steadier, his seizures were less frequent. Most importantly, his arginine levels – numbers that had defined so much of his medical life – finally came into a normal range.
Josh looked stronger, felt better and he was truly thriving; as the brain fog lifted, his smiles were back along with the greatest giggles.
For those eight months, the relentless progression of Arginase 1 Deficiency seemed to slow. The constant cycle of hospitalizations quieted. We were able to breathe.
He taught us patience, perseverance, advocacy – showing how to make the impossible possible!
When Access Was Interrupted
Then the medication became unavailable.
The interruption was sudden, and the progress Josh had made began to slip away. His arginine levels returned to the 400’s and 500’s, his strength declined, his mobility worsened, and hospital visits returned. Josh was even discharged from physical therapy because of his significant decline.
Other families and I wrote to the FDA, pleading for urgency and continuity. We shared not just lab results, but real-life changes. In one of those letters, I explained that without Pegzilarginase, Josh would decline, regress, and lose the gains he had worked so hard to achieve. I shared my deepest fear — that without access to this treatment, his life would be at risk. No other therapy had ever normalized his arginine levels. Pegzilarginase had truly been a game changer for Josh.
When the therapy was later acquired by a new pharmaceutical company, we immediately began working to restart treatment. We were hopeful the process would move quickly. Instead, unexpected delays and barriers stretched on.
During that time, Josh’s body continued to weaken.
In March 2025, Josh became ill with norovirus. Even with exceptional hospital care, his body — already worn down — could not recover.
I believe Pegzilarginase gave Josh the armor he needed. If Josh had not been taken off of this treatment, there would have been a greater chance his body would have been strong enough to survive — and that my handsome young man, with his signature smile, might still be here with us today.
In Loving Memory of
Joshua Thomas Eaton
November 14, 1997 – March 19, 2025
Josh’s story shows both the promise of treatment and the devastating consequences when access is delayed, interrupted, or denied.
Remembering Josh
The rare music of life can be beautiful — if we take the time to listen.
Josh’s story is about courage, joy, and perseverance.
He loved life, loved his family, loved music, and loved people. He always loved being a part of something special and through his story, he will continue to teach the Arginase 1 Deficiency world what is possible, even in the face of a rare and relentless disease.
We share his story not to frighten, but to educate, inspire awareness, and honor him.
Please remember Josh — his laughter, his spirit, his joy, and his determination. Share his legacy so others may learn from him, so access improves for future families, and so no other parent has to watch hope slip away because of delays beyond their control.
A Pioneer’s Impact: How I Hope Josh Helped Pave the Way
Just before sharing Josh’s story, on February 23, 2026, Loargys (Pegzilarginase) was finally approved by the FDA — an accomplishment that will always be bittersweet without Josh. I am thankful for this news; though my loss is immeasurable, I am hoping Josh’s story helped pave the way so other families can have reliable access to the treatment they need without interruption.
My Josh — the heart behind the mission and the light of my life. I will carry his spirit with me in every step we take for this community.
— Alexandra Eaton