Wesley was a bright and thriving baby during his first year, meeting milestones and bringing joy to his parents, Katarina and Brian. Everything seemed normal, until his 15-month checkup raised questions about his delayed walking.
His pediatrician recommended evaluations by orthopedic and genetic specialists. At first, his parents assumed Wesley was simply a late walker, unaware of the storm ahead.
Orthopedic observations prompted a genetics consult, revealing characteristics of a condition they had never heard of before: Hunter Syndrome. By 19 months, the devastating diagnosis was confirmed.
Hunter Syndrome, or Mucopolysaccharidosis type II (MPS II), is a rare genetic disorder where the body cannot properly break down sugar molecules. The disease progressively affects multiple organs, including the heart, skeleton, and respiratory system, and can limit life expectancy.
“For a moment, everything felt like a terminal diagnosis,” Katarina recalls. “The normal childhood we imagined vanished, replaced by fear and uncertainty.”
Immediately, the family began an exhaustive search for treatment options. They reached out to the National MPS Society and connected with Dr. Barbara Burton, MD, at Lurie Children’s.
Dr. Burton is a renowned expert in lysosomal storage disorders and has dedicated her career to researching new therapies for rare diseases. She quickly evaluated Wesley’s records and offered a promising opportunity: enrollment in one of just two clinical trials available for MPS II.
Within a month of diagnosis, Katarina and Brian uprooted their lives from Florida to Chicago. They committed to the trial, knowing it offered Wesley the best chance at a healthier future.
The trial tested a revolutionary blood-brain barrier-penetrant enzyme designed to slow cognitive decline and neurodegeneration common in Hunter Syndrome. Unlike standard therapies, this approach addresses the brain directly, offering hope to patients previously left untreated in this aspect.
Each week, Wesley receives infusions at Lurie Children’s Clinical Research Unit. He approaches the visits with joy, laughter, and an infectious energy that brightens the room.
His care team, including Dr. Burton and dedicated nurses, provide personalized attention, ensuring Wesley feels comfortable and supported throughout every procedure. His nurse, Rachel, has become like family, playing, reading, and dancing with him during treatments.
While there is no cure for Hunter Syndrome, the family feels immense hope. They are inspired by Wesley’s progress and the knowledge that this trial may benefit future generations of children with the same diagnosis.
Lurie Children’s has become a national leader in rare disease care, earning designation as a NORD Rare Disease Center of Excellence. The program connects patients and families with the latest research and specialized therapies.
The multidisciplinary approach ensures that Wesley’s medical, cognitive, and emotional needs are met. From lab work to therapy, every step of care is coordinated to maximize his quality of life.
For Katarina and Brian, the support of the Lurie team has been transformative. They feel confident knowing there is a knowledgeable, compassionate team advocating for their son.
Wesley’s journey demonstrates the power of early intervention, research, and access to cutting-edge therapies. His participation in the trial not only benefits him, but also helps pave the way for other children with rare disorders.
Through every challenge, Wesley’s family remains resilient, celebrating each milestone and embracing hope. His laughter, curiosity, and courage inspire the clinicians around him daily.
The story of Wesley underscores the importance of rare disease research and clinical trials. Families like his often face uncertainty, but with the right expertise, there is a path toward meaningful progress.
As Wesley continues with therapy, he thrives physically, cognitively, and emotionally. His parents cherish each day, celebrating the moments that were once uncertain or impossible.
Lurie Children’s multidisciplinary and patient-centered approach serves as a model for how children with rare, complex conditions can receive life-changing care close to home.
Through research, clinical innovation, and compassionate care, children like Wesley are not just surviving—they are flourishing.
The family hopes that sharing Wesley’s story will raise awareness, inspire other families, and encourage continued support for pediatric rare disease research.
Wesley’s journey is a reminder that even the rarest conditions can be met with expertise, love, and hope. Each week of treatment, each step forward, represents the extraordinary courage of a child and the dedication of the clinicians guiding him.