“Jack is a very happy, energetic little boy,” his mother, Michelle Duff, often says. But those words only begin to describe the remarkable journey her son has already traveled. At just 16 months old, Jack has faced challenges that most people will never encounter in a lifetime — and he has met them with courage, resilience, and an unbreakable spirit.

Jack was diagnosed with MPS 1 (Mucopolysaccharidosis Type I), a rare genetic disorder that affects multiple organs and systems throughout the body. Left untreated, the condition can severely impact growth, mobility, organ function, and overall quality of life. For Jack and his family, the diagnosis changed everything — but it also opened the door to early intervention that would prove lifesaving.

A Diagnosis That Changed Everything

Jack’s condition was identified through Indiana’s expanded newborn screening program, making him the first child in the state diagnosed with MPS 1 through this initiative. That early detection altered the course of his life.

Within days of receiving the diagnosis, Michelle and her family were immersed in a world of genetic specialists, treatment plans, and urgent medical decisions. The terminology was unfamiliar, the prognosis uncertain, and the emotional weight overwhelming.

Yet even in the midst of fear and confusion, Jack’s personality shone through. He smiled easily, engaged with those around him, and radiated joy — reminding his family and care team that a diagnosis does not define a child’s spirit.

Beginning Treatment Early

Almost immediately, Jack began enzyme replacement therapy (ERT), a treatment designed to supply the enzyme his body could not produce on its own. Infusions became a regular part of his life, each session requiring careful monitoring and patience.

The process was not easy. Finding veins in a tiny arm, keeping a curious toddler still, and managing the emotional toll tested everyone involved. Yet Jack tolerated treatment with remarkable bravery. Nurses and doctors quickly grew fond of him, inspired by his calm demeanor, curiosity, and affectionate nature.

Over time, the therapy began to help. While musculoskeletal challenges persisted, Jack’s overall condition stabilized, giving his body a stronger foundation for growth and development.

Learning to Move Forward

Physical development required consistent support. Crawling, standing, and eventually walking did not come easily. Physical therapists worked closely with Jack, guiding exercises to strengthen muscles, improve coordination, and support mobility affected by MPS 1.

Each milestone mattered. A steady crawl. A supported stand. A few wobbly steps.

For Michelle and her family, these moments were victories earned through perseverance, therapy, and endless encouragement. Every movement was proof that progress was possible.

A Life-Changing Transplant

One of the most critical moments in Jack’s journey was a bone marrow transplant, with his sister serving as the donor. The procedure offered the possibility of providing Jack’s body with healthy cells capable of producing the missing enzyme.

Preparation was intense. Extensive testing, hospital stays, and careful planning filled the weeks leading up to the transplant. The day of the procedure brought a mix of fear, hope, and prayer as Jack was taken into surgery, his tiny hand held tightly by a mother who had already endured so much.

Recovery and Vigilance

Post-transplant recovery was a delicate and demanding phase. At Riley Children’s Hospital, Jack was monitored around the clock. His immune system was weakened, making infection prevention critical.

Michelle and her family remained constantly by his side. They read stories, sang softly, and comforted him through unfamiliar routines and medical interventions. The hospital room became both a place of anxiety and profound love.

The days following the transplant were tense. Minor changes in temperature or blood counts triggered immediate attention. Each stable feeding, steady breath, and small movement became monumental.

The medical team celebrated every step forward alongside the family, emphasizing that survival was just the beginning — thriving would require continued care, therapy, and patience.

A Spirit That Refused to Dim

Throughout every challenge, Jack’s resilience remained remarkable. He responded to familiar voices, reached for toys, and laughed whenever he could. His energy and affection served as reminders that illness does not diminish a child’s capacity for joy.

Weeks turned into months. Physical therapy, occupational therapy, and developmental exercises became part of daily life. Each session strengthened not only Jack’s body, but also his confidence and curiosity.

The Power of Support

Jack’s progress was made possible by a coordinated team at Riley Children’s Hospital. Geneticists, hematologists, therapists, and nurses worked together, ensuring that each aspect of his care was aligned with his needs.

Equally vital was his family’s dedication. Michelle learned every aspect of his care, from medications to therapy techniques. Extended family, friends, and the community offered support through meals, encouragement, and presence during long hospital days.

Thriving Beyond Diagnosis

Today, at 16 months old, Jack is thriving. He crawls, stands, plays, and explores the world with enthusiasm. His curiosity is boundless, his laughter contagious.

Though MPS 1 remains part of his life, it does not define him. Ongoing monitoring and therapy will continue, but Jack’s journey proves what is possible when early diagnosis meets expert care and unwavering love.

A Story of Hope

Jack’s story underscores the life-changing importance of newborn screening, early intervention, and specialized treatment for rare genetic disorders. Without early detection, his outcome could have been dramatically different.

Instead, his life stands as a testament to courage, perseverance, and hope. His journey reminds families facing similar diagnoses that action matters, that progress is possible, and that a child’s strength can exceed every expectation.

Jack’s life beyond diagnosis is filled with play, growth, and possibility — a powerful reminder that even the rarest challenges can be met with resilience, love, and unwavering hope.