Charlie.CureMPS1.org
Meet Charlie and Mandy
Charlie is a bright, resilient 5-year-old who, since birth, has braved countless medical procedures and challenges associated with MPS1, also known as Hurler Syndrome. Diagnosed just days after birth, thanks to Tennessee newborn screening, Charlie has undergone two bone marrow transplants, many rounds of chemo, hours of enzyme replacement therapy, and numerous hospital stays. She will face numerous orthopedic and other surgeries as she gets older and MPS1 continues to progress in her body.
Her mother, Mandy, has been a steadfast advocate for her care, fighting tirelessly to ensure Charlie receives the treatment she needs. Mandy’s dedication inspires and reminds us all of the importance of hope, awareness, and advocacy.
Charlie's Diagnosis
Charlie was diagnosed with MPS1 Hurler Syndrome shortly after birth, thanks to newborn screening in Tennessee, changing our lives forever. MPS1-Hurler syndrome is a rare genetic disorder impacting children in profound ways. Due to a missing enzyme, Charlie’s body cannot break down certain molecules, leading to a buildup of toxins that affect her brain, heart, tissues, and organs. Treatment requires a delicate balance of specialized medical interventions and constant monitoring, making awareness and support vital for families. Though the road ahead is daunting, we are devoted to fighting this disease, seeking hope, and helping Charlie have the best quality of life possible.
What is MPS 1 Hurler Syndrome?
MPS1 Hurler Syndrome is a rare genetic disorder caused by the body’s inability to break down specific sugar molecules, leading to buildup in organs and tissues. It causes severe physical and neurological symptoms, affecting a child’s ability to grow and develop properly. The impact is devastating, and without proper treatment, the disease progresses rapidly.
Charlie's Treatment Journey
Charlie’s journey has been one of resilience. Diagnosis and Early Treatment: Charlie’s journey has been one of resilience. Charlie was born in 2019 and diagnosed with MPS1 Hurler Syndrome through newborn screening in Tennessee, which Mandy calls as it enabled Charlie to start enzyme replacement therapy (ERT) just 30 days after her birth. Mandy shares,
