Meet Mandy and Charlie - Hope For Charlie #CureMPS1Project

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 “a miracle” as it enabled Charlie to start enzyme replacement therapy (ERT) just 30 days after her birth. Mandy shares, “Charlie was able to receive ERT at 30 days old because she received her central line at 28 days old. Just two days later, she started her first ERT.”

Bone Marrow Transplants: Charlie has undergone two bone marrow transplants. The first was initially unsuccessful, and Mandy fought hard for a second transplant when Charlie’s cell engraftment dropped to 32%. Mandy recalls, “It’s kind of strange because 32% was also her likelihood of surviving a second transplant, but I couldn’t give up.”Mandy’s determination led her to seek a cord blood transplant, known for reducing graft-versus-host disease risk. Although the first cord transplant failed, a second attempt took hold, showing Charlie’s incredible resilience.

Orthopedic Surgeries and Challenges Ahead: In addition to two bone marrow transplants, Charlie faces a lifetime of surgeries for her hips, knees, and spine due to the progressive nature of MPS1. Mandy describes, “Once the surgeries start, they’ll be on repeat. The garbage in her body will keep attacking her joints, so she’ll need hip and knee replacements, among other procedures.” The next stage in Charlie’s journey will include orthopedic surgeries, which Mandy is determined for them to take place at facilities with experience in MPS1.

2019: Diagnosis through newborn screening

2019: Start of enzyme replacement therapy

May 2019: First bone marrow transplant

January 2021: Second bone marrow transplant

Ongoing: Post transplant recovery, therapies, orthopedic surgeries, and specialist visits

A Mother’s Unyielding Resolve