Cure MPS1 Project
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 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.
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 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
From the very beginning, Mandy has been Charlie’s unwavering advocate, seeking out Cincinnati Children’s Hospital for Charlie’s care despite the obstacles of Medicaid coverage across state lines. Mandy reflects, “I packed up my old car with $160 and drove to Ohio, knowing I had to do everything to keep her alive.” Mandy’s journey has been marked by fierce resilience and deep love for her daughter, standing up to any challenges in her path to give Charlie the best chance at a full life.
Misconceptions About MPS1
People often say, ‘Charlie looks fine now,’ but what you don’t see are the hours spent managing symptoms, the frequent pain, and the many surgeries in her future. MPS1 Hurler Syndrome isn’t visible on the outside, but it affects every part of her body. Until we find a cure, Charlie will continue to face these challenges daily.
Navigating rare diseases like MPS1 demands a supportive community and robust advocacy. Mandy continuously advocates for Medicaid expansion policies that would allow out-of-state treatments for rare conditions like MPS1, where specialized care may not be available locally. Mandy urges, “Please help us spread this. We need people to hear our stories, to help share and advocate because it will take awareness and community support to help find a cure.”
In this heartfelt episode, Mandy shares the realities of raising a child with MPS1-Hurler syndrome, discussing the struggles, advocacy needs, and the joys that come with being Charlie’s mom. Her journey is one of resilience and strength, as she fights every day for a future without MPS1.
Though she faces numerous challenges, Charlie remains full of life, laughter, and spirit. Mandy says, “When I pick her up from school, she runs to me, but you can see she’s not like other kids. Her ankles hurt, her knees go inward, but she never gives up. She’s so resilient.” Charlie’s joy and resilience serve as a beautiful reminder that these children are alive, full of energy, and deserving of a future. “Our kids… they’re alive. They laugh, they play, they have big hearts, and they deserve the chance to keep growing.”
How You Can Help
Charlie’s story is one of courage, hope, and unwavering love. Your support can bring hope to Charlie and other children with MPS1. Here’s how you can help:
Donate: Every contribution brings us closer to a cure for MPS1.
Share: Spread Charlie’s story and raise awareness about MPS1 Hurler Syndrome.
Pray: Join us in praying for a cure and strength for Charlie and others on this journey.
