Whether you're a newly diagnosed family, part of the rare disease community, or just seeking a powerful story of resilience—this conversation will leave a lasting impact. Learn why community matters, how motherly instinct can lead to answers, and what it really means to "rise up" when life demands everything of you.

🔎 Topics covered:

• The emotional toll of a rare diagnosis
• Navigating bone marrow transplant as a single mom
• Restarting enzyme replacement therapy post-transplant
• Importance of neuromonitoring and center of excellence care
• The power of rare community events & NPS1 support networks

Jude’s family stands by him through every challenge. His mom shares, “Our prayer was answered with his diagnosis, but it also became a new starting line. We rely on faith to guide us every step of the way.”

Jude was diagnosed with MPS1 attenuated in December 2022 after years of joint stiffness, pain, and unanswered questions. His family had spent years navigating countless tests and doctor visits, only to feel overlooked at times. “It was the most painful relief to finally get a diagnosis,” his mom explains.

Titus is a lively, courageous little boy whose laughter and hugs light up every room. Born on March 26, 2019, Titus was diagnosed with MPS1 just weeks after birth, altering the life his family had envisioned. Despite his challenges, Titus approaches every day with joy, resilience, and determination that inspires everyone who meets him.

The Barrett-Weber family—rooted in faith and fueled by hope—has dedicated their lives to fighting for Titus and helping other children like him. Their journey reflects strength, love, and an unwavering commitment to making a difference.

Titus’s Diagnosis

Titus was diagnosed with MPS1-Hurler Syndrome just weeks after birth, thanks to newborn screening. This rare and devastating disease affects almost every part of the body, caused by the body’s inability to break down specific sugar molecules. These molecules build up in tissues and organs, causing severe physical and neurological symptoms.

Treatment for MPS1 is complex and requires lifelong medical care, including enzyme replacement therapy, surgeries, and ongoing monitoring. While treatment can slow the disease’s progression, it cannot reverse the damage already done. For Titus and others like him, finding a cure is critical.

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