Autumn M. was diagnosed with Mucopolysaccharidosis VI (MPS VI) at just 18 months old, at a time when no treatments were available. In 2000, she joined the Phase I clinical trial for Naglazyme, an enzyme replacement therapy that transformed her life. “My first infusion was on November 8th, and it started a whirlwind of an adventure,” she recalls. “I made connections with other MPS VI individuals who I still keep in touch with regularly.”
Despite challenges, including multiple surgeries and a significant loss of independence, Autumn embraces her life with creativity and determination. She works full-time for the National Guard, finds joy in hobbies like reading, video games, and theater, and cherishes her visits to Disneyland.
Autumn also gives back to the MPS community as Chairwoman of the National MPS Society’s Adult Resource Committee, a role which she has been in for four years, and where her leadership has made a lasting impact.
Sheri L., a fellow committee member, said: “Autumn has done a phenomenal job for several years now. She always keeps us on time, on topic, and engaged, which is not always an easy job with our group! She is caring and is a great friend to us all. She works hard and deserves recognition for all she does for us, our committee, and the MPS Society.”
For the National MPS Society and all who know her, Autumn’s journey exemplifies the resilience within the community and the profound impact of combining science, advocacy, and the human spirit.
Autumn says it best: “One of my favorite quotes is from Albert Einstein, who says ‘I have no special talents, I am only passionately curious.‘ There is no creativity without curiosity. No matter our circumstances, a little creativity can spark joy in our lives.”
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Eddie James Bell Jr. was born on July 29, 1981, and brought love and light to all who knew him until his passing on April 4, 2022. Eddie lived with MPS I, also known as Hurler Syndrome, a condition that brought many challenges but never diminished his spirit. Eddie was a loving son whose courage and positivity left a deep imprint on his family and friends.
“Eddie was a courageous person,” said his mother, Debra Bell. “He never complained about his life. I miss his smiles and conversation.”
Debra recalled how Eddie’s laughter filled the early mornings as he shared jokes with friends over the phone, and his tender conversations with family often continued into the middle of the night. These moments were a testament to his vibrant personality and enduring love for those closest to him.
“Eddie taught me how to love unconditionally,” said Debra. “I want to be brave just like him.”
Despite the limitations of his illness, Eddie was determined to make a lasting impact. Two years before his passing, he started a T-shirt business, Bellafontae the Ambassador, as a way to leave a legacy of creativity and inspiration. This endeavor was a testament to his drive and vision, reminding everyone around him of his resilience and hope. Although Eddie has passed, his designs are still available for purchase in the RARE Aware shop, an online storefront managed by members of the Adult Resource Committee at the National MPS Society.
In remembering Eddie, his family and friends honor not just his life but also the lessons he shared: to be courageous, to love unconditionally, and to embrace life with open arms.
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In the early days of his career, a young scientist named Emil Kakkis found himself deep in the world of academic research, working with the renowned Dr. Elizabeth Neufeld. Their focus was on a rare genetic disease, MPS I, caused by a missing enzyme. With dedication, he and Dr. Neufeld managed a breakthrough: they produced the enzyme and successfully treated dogs with MPS I. Yet, despite this progress, there was no clear pathway to bring the treatment to human patients. The project, on the verge of being shelved, seemed destined to become another entry in a scientific journal, rather than a life-altering therapy.
Then, at a critical moment, he met Mark and Jeanne Dant, who introduced him to their five-year-old son, Ryan, who was living with MPS I. “At that moment, the science became real,” said Dr. Kakkis. “It became personal, not just academic.”
What followed was a hard-fought journey, powered by donations and dreams. Over time, their project gathered momentum, ultimately capturing the attention of biotech company BioMarin. Thanks to their backing, the therapy reached the finish line, and on February 13, 1998—what would become Ryan’s “lucky day”—he received the first enzyme replacement therapy (ERT). It was a treatment that would not only change his life but would allow him to thrive: Ryan grew up, got his driver’s license, graduated from high school, went to college, and eventually married. Today, 26 years later, Ryan still benefits from that very therapy.
Inspired by this success, Dr. Kakkis’s mission took on new life. At BioMarin, he pursued treatments for other MPS disorders, such as MPS VI, which included collaborating with Dr. Hopwood to develop Naglazyme after overcoming significant manufacturing challenges. Next, they worked on Vimizim for Morquio, pushing past initial beliefs that the disease was limited to bones to address its effects throughout the body. Later, at Ultragenyx, he led efforts to produce Mepsevii for MPS VII and saw it approved. Most recently, his team at Ultragenyx took on a gene therapy project for MPS IIIA from Abeona, moving the therapy toward a potential FDA approval that could offer the first treatment for Sanfilippo syndrome.
“Witnessing the transformation of the MPS Society from one of pure patient support to one of treatment access and policy has been exciting to see,” said Dr. Kakkis, “Now the next phase could bring more decisive single treatments for MPS diseases, and more hope for untreated families to finally be treated for the first time.”
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“I was born with a rare disease without even knowing it,” explains Fanny Z., a 14-year member of the Society with Morquio Syndrome Type A (MPS IV A). “No symptoms or signs—until I started walking. Mom says I would complain that my legs hurt, and I didn’t want to walk. I always wanted to be held.”
Like many living with rare diseases, the early stages of Fanny’s life were filled with uncertainty and confusion. What began as a child’s reluctance to walk evolved into a challenging quest for answers, as Fanny and her mother visited doctor after doctor, searching for a diagnosis. “[They kept] telling my mom there was nothing wrong. They said I was fine,” said Fanny.
As time passed, the symptoms became undeniable. Her knock knees grew more pronounced, which made her physical symptoms more visible to others.
“Now I was getting the attention but still no answers,” Fanny recalls. Her mother’s determination, though, never wavered. “She kept fighting for me, and finally, I was diagnosed with Morquio A.”
With a diagnosis came a new wave of challenges—surgeries that occupied her summers and treatments that shaped her childhood. “I didn’t understand the stares, why I looked different, why I couldn’t run. I was mad, angry, sad, and confused.”
But even as her body underwent surgeries and treatments, Fanny’s spirit remained resilient. Determined to live a full and meaningful life, she pursued her career in Business Administration and dedicated herself to work and volunteering at her church. It wasn’t until 2010, though, that she found a larger community of support— the National MPS Society.
“In 2010, I became a member of the National MPS Society, and together we have, are, and will continue to urge, promote, and support treatments—and soon cures—for other MPS families and myself,” she said.
Although MPIS IV A has been challenging at times for Fanny, it has not affected her spirit. “MPS IV A has made my life a roller coaster but it does not define me. I love life and have hope for a better tomorrow.”
Fanny’s story is a testament to the power of resilience and advocacy throughout much of the MPS & ML community. Through her involvement with the National MPS Society, she’s not only advocating for her own future but also for the future of thousands living with MPS.
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Lucas was the youngest of four children. From the start, he stood out—not just as the baby of the family, but as the only one diagnosed with Sanfilippo Syndrome (MPSIII). Lucas’s family’s journey to understanding his condition was long and winding, stretching over eight years filled with visits to geneticists and specialists. It wasn’t until 2006, when Lucas was eight years old, that they finally received his long-awaited diagnosis.
With a diagnosis in hand, Lucas’s family made a decision to focus on the present and ensure that Lucas was comfortable and happy. Alongside caring for Lucas, his family felt compelled to take action. Their fundraising efforts began in earnest shortly after his diagnosis, driven by a desire to bring awareness to MPS and ML research.
“We have hosted numerous yearly awareness events, galas, golf outings, and walk/runs in addition to running an online clothing line called Lucas Gear,” said Lucas’s mother, Stacey Montgomery. “[We did all of this] in hopes of bringing awareness and raising funds for research for MPS and ML.”
Despite the challenges of MPSIII, Lucas was a beacon of positivity.
“Lucas brought awareness to his syndrome, always smiling and inspiring others to be courageous, positive, and strong, and to fight for what they believed in,” said Stacey. “He had a tremendous amount of love for his family and made sure his family felt as strong as he was.”
Despite his contagious joy and strength, Lucas passed away in 2018. His family hopes that his story will inspire others to embrace their unique challenges and rise above perceived obstacles, and that his legacy of love and strength will create a brighter future for all.
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Benji C. is a strong, confident, self-assured, loud, and determined 8-year-old with MPS I.
When Benji was a baby, his parents had some unique concerns about his health and brought them to their doctor. The doctor told them that what Benji was experiencing was normal for boys his age, and not to be concerned because all kids develop differently. Then, at 15 months old, someone suggested to Benji’s parents that his coarse facial features might be an indicator of a genetic disease.
After an expedited trip to a geneticist, Benji was diagnosed with Hurler Syndrome at 16 months of age. He immediately started Enzyme Replacement Therapy (ERT), and at 18 months old he underwent a Bone Marrow Transplant with cord blood.
Benji’s transplant recovery was a long one. He dealt with complications such as a Graft-versus-host disease (GHVD) skin infection and auto immune hemolytic anemia. Benji’s family did not realize how long of a journey they would have post-transplant, but they learned to celebrate all the little wins along the way. Still, it took Benji two to three years longer to do things that other children his age might, like learning to talk and getting potty trained.
“I would never have expected us to be in as great of a place as we are,” said Benji’s mother, Tamara. “Despite his surgeries for carpel tunnel, umbilical hernia, hip realignment, and guided growth of his knees, he is one of the most positive, grateful children I know. He loves life, singing, and school, and while this isn’t a journey we would have wanted to be on, we would not change our son in any way.”
Let us introduce you to Jacob Ray (J.R.) Anton, one of the many faces of MPS.
