Sebin, the third of four siblings, has spent nearly her entire life in the hospital, including time in the NICU and ICU. She has now been hospitalized for four years due to the many complications that come with her diagnosis, MPS III, also known as Sanfilippo Syndrome.
“Every day, I fall asleep on an oxygen respirator,” said Hyemin, Sebin’s mother. “The oxygen saturation, increased liver levels, and numerous other symptoms of MPS always make caring for Sebin difficult.”
According ot Hyemin, though, caring for Sebin is no trouble for a family who loves her dearly.
“She lives with a lot of care from her siblings,” Hyemin said. “She is a lovely daughter to mom and dad, a princess to her brothers, and the prettiest princess to her sister.”
Through the ups and downs of a Sanfilippo diagnosis, Sebin remains the heart of her family. “She is always smiling lovingly in the process of struggling, and she is the happiness of my family,” said Hyemin. “Sebin is a princess of my family.”
“I was misdiagnosed at age seven with Spondyloepiphyseal dysplasia after early signs of skeletal differences.. By age eight, I underwent a hip shelf procedure, followed by double hip replacements at 12. At 15, I had a multilevel spinal fusion, and at 38, I had a total knee replacement.
In my early 30s, I began experiencing corneal clouding that significantly impacted my vision and had me looking for more answers. My cornea specialist suggested genetic testing to determine the specific type of corneal dystrophy we had been treating. When the first round of testing came back negative for both Spondyloepiphyseal Dysplasia and Corneal Dystrophy, we laughed and moved on to a second round. During a virtual appointment with a genetic counselor, I was shocked to finally hear the words: Morquio Syndrome, or MPS IV A.
The day after my diagnosis, my research led me to the National MPS Society and the Pathways Program, where I was connected with Evelyn Fisher. It was surprising to learn that even as an adult, I needed to be seen at a children’s hospital, but I was quickly referred to the Children’s Hospital of Philadelphia. Within 30 days of meeting Evie, I started enzyme replacement therapy—ten years after it had become available. Just six months after that, I attended the Orlando MPS Conference, where I met other adults with MPS and found a sense of community I never knew I was missing.
Looking back, I know my parents and doctors did everything right with the information they had—we just didn’t have the diagnosis. I still would have needed the same orthopedic surgeries, but earlier access to enzyme replacement therapy might have made a difference in my disease progression.
To parents who are just beginning this journey: know that your strength and encouragement truly matter. Finding the right physicians and connecting with the MPS community will give you the tools, support, and knowledge to advocate for your child every step of the way. My journey has looked a bit different than most MPS kids, but I still went to college, earned a master’s degree, bought a house, and worked full time up until very recently. A diagnosis doesn’t limit your potential—it empowers you to fight for it.”
In 2020, in the quiet hum of a hospital NICU, Lauryn and her husband began a journey no parent ever anticipates. Their newborn daughter, Blakely Mae, had just been diagnosed with Mucolipidosis (ML) Type II, a rare and devastating genetic disorder. In that moment, their world shifted—ushering them into the role of “rare parents.”
“In the midst of overwhelming emotions, uncertainty, and grief, we made a choice to live each day with love,” Lauryn recalled. “And to pack a lifetime of love into the short time we had with Blakely.”
And that’s exactly what they did. Blakely’s life, though heartbreakingly brief, was radiant. She lived just two and a half years, but every moment was saturated with affection, tenderness, and joy.
The loss of Blakely was shattering. “To say we were devastated is an understatement,” Lauryn shared. “We would have moved mountains to heal her. But now, we’re trying to find purpose in the pain.”
Since Blakely’s passing, Lauryn and her family have been committed to honoring Blakely’s memory by raising awareness for ML and advocating for other children facing rare diseases. “Every day, we honor her name, her spirit, and the other rare children who still need a cure.”
Blakely Mae may have only been here for a short time, but her impact endures—a testament to the powerful love of her family and the joy she brought to all who knew her.
“We miss you more than words can express, Blakely Mae,” said Lauryn. “You are forever in our hearts.”
“In 2018, our family welcomed our youngest daughter, Raelin, into the world. From the moment she was born, we were completely in love. She lit up our lives with her spunky personality andbeautiful red hair. Despite some early developmental concerns, Raelin seemed to be progressing well as an infant. However, as she grew into toddlerhood, we began noticing increasing developmental delays. We also discovered that she was losing her hearing.
What initially seemed like a slightly delayed speech soon began to regress rapidly. Doctors and specialists were unable to provide a clear explanation for her symptoms. Eventually, she was diagnosed with autism, but to us, it felt like an incomplete answer. She underwent a chromosomal microarray genetic test, which came back normal. As newcomers to the world of genetic testing, we didn’t realize that this particular test wouldn’t screen for MPS III.
Finally, a neurologist at Phoenix Children’s Hospital ordered a full genetic sequencing test. At age six, we received the devastating diagnosis: Raelin had MPS III, also known as Sanfilippo Syndrome.
Through this journey, we have learned to cherish the invaluable gifts of hope and time. Hope for a cure. Hope for a treatment. Time together as a family. Time with Raelin. While this disease is fatal, and we watch as she loses a little more of her abilities each day, we are deeply grateful for her. She is a precious gift, bringing immeasurable joy to our family. Everyday with her is a blessing.
We are truly grateful for the support we have received from MPS Society and Cure Sanfilippo, whose dedication to research, advocacy, and community is truly impacting our family. We are also truly grateful for Raelin’s medical team, compassionate ABA therapists, caring school team, church, and amazing friends and family. Through this journey, we have also met other truly incredible MPS Families. It is community that helps give us the courage to face each day and reminds us that we are not alone in this journey.”
Matthew Wain (MPS I)
The Wain family’s journey with MPS began in 1987 when their firstborn, Matthew, was diagnosed with MPS I. Doctors immediately asked if there were other children, and at just three months old, Matthew’s younger sister, Stacy, was also diagnosed with MPS I. At the time, bone marrow transplants were an emerging treatment. Due to complications from prematurity and weak lungs, Matthew was not a candidate, however Stacy was deemed an ideal recipient.
The Wain family traveled to Iowa, where Stacy became the first patient to receive an unrelated bone marrow transplant at the University of Iowa. Amidst their hope for the future, in 1990 the family also experienced heartbreak: Matthew passed away.
Stacy Wain (MPS I)
Despite the challenges she faced and the loss of her brother, Stacy became a trailblazer for individuals with Hurler syndrome. She graduated from high school, attended classes at a local community college, and embraced independence, eventually living in her own apartment with her beloved cat.
In 2014, Stacy underwent surgery for her gallbladder and spleen. Sadly, six days later, she passed away due to complications from the surgery.
Stacy’s mother, Nancy Wain, remembers her as spunky and spirited, and said that her laugh could light up a room.
“The MPS Society was a blessing to our family with the support it offered,” said Mrs. Wain. “Meeting new friends at conferences made us feel like we weren’t alone, and for that we are grateful.”
“MPS II, also known as Hunter Syndrome, has been a part of my life for as long as I can remember. I grew up watching my little brothers battle this devastating disease, witnessing their joy turn into struggle as they slowly lost the abilities most of us take for granted. First, their words faded. Then, the ability to eat, to walk, to breathe. I held their hands as they slipped away—Nathaniel at just 11 years old, and three years later, Nyaire at 14. Their lives were stolen by this cruel disease, and the grief of losing them still weighs heavy on my heart.
But my story didn’t end there.
Years later, I became a mother. My son PJ was born on April 1, 2017. A vibrant, curious, brilliant baby who hit every milestone—some even ahead of schedule. I called him my genius baby. But shortly after his first birthday, things changed. Frequent ear infections, severe sleep apnea, hospitalizations for breathing issues. Doctors reassured me, offering tips to fight daycare germs. Then, I became pregnant with Pharaoh. Almost immediately, he too struggled to breathe.
One month before PJ’s second birthday, our world shattered. My thriving, energetic little boy suddenly lost all his skills. Walking exhausted him. He stopped sleeping. And when I looked at his face, I saw something eerily familiar—his features were changing, just like my brothers’. My heart pounded as I picked up the phone to call a geneticist.
The moment the doctor and genetic counselor walked into the room, I knew.
“I’m almost certain he has Hunter Syndrome,” they said, confirming my worst fear. “We need to test Pharaoh too.”
And just like that, my sons’ futures—their hopes, their dreams—were stolen before my eyes.
Grief introduced itself to me again. But this time, it was different. I was grieving my beautiful boys while they were still alive, knowing MPS II would take everything from them.
Shortly after, PJ was hospitalized with rhinovirus and placed on oxygen. What was supposed to be a short stay turned into two months; during that time, our incredible genetic counselor set us up with every specialist imaginable. I juggled appointments for Pharaoh, then rushed back to PJ’s hospital room, repeating this cycle day after day. Cincinnati Children’s Hospital became our home.
Then, a glimmer of hope.
Our genetic counselor found a clinical trial at UPMC Children’s Hospital of Pittsburgh. It wasn’t a cure, but it was a chance—something my brothers never had. For months, we traveled between Cincinnati and Pittsburgh, just me and my boys. Eventually, both PJ and Pharaoh were accepted into a clinical trial. I packed up our lives and moved to Pittsburgh, determined to give them a fighting chance.
In August 2022, life threw me another curveball—I was pregnant again. My third son was born in May 2023 and was tested for Hunter Syndrome at birth. The result? Positive. My heart shattered once more. But this time, we had a plan. Unlike his brothers, he started treatment at just three months old.
All three of my sons are part of a clinical trial, and while they are doing well, this is not a cure. The treatment is not FDA-approved, meaning many families don’t even have access to this small chance at hope. The trial may slow some of the disease’s effects, but it cannot undo the damage already done. My oldest boys, now seven and six, are nonverbal, not potty trained, and struggle with behaviors rooted in frustration and pain they cannot communicate.
We need a cure.
I planned two funerals for [my brothers], and the thought of losing my sons the same way breaks me. No parent should have to live in constant fear of a ticking clock, watching time slip away, knowing they are powerless to stop it.
We need newborn screening. We need FDA approval for existing treatments so more families can access them. We need funding for research. We need hope.
MPS is stealing our children. Their futures should not be just a dream. It should be a reality!”
For most of his 10 years, Jacob has been a puzzle. Born prematurely, he faced challenges from the start. Diagnosed with Level 3 Autism and an unspecified developmental disability at a young age, Jacob’s life was marked by unanswered questions. His mother, Jen, always had a nagging feeling that there was something more going on—something that didn’t fit the labels and diagnoses they had been given.
Jen, a single mother with a limited support system and two young sons to care for, never stopped advocating for Jacob. “It was exhausting,” she recalls. “But I couldn’t ignore the signs. There were too many things that didn’t add up.”
Her persistence finally led her to a neurologist in 2022, where Jen and Jacob began the process of genetic testing, but the process proved to be an uphill battle.
Jacob with his younger brother, Cameron.
Initially, insurance denied coverage for the tests, creating a significant roadblock. After they were able to get approval, Jacob’s first swab was submitted, but the wait for results was long and stressful– ultimately, the family was informed that the test results could not be processed, and they would need to submit a new swab. Finally, in September of 2024, the results uncovered the diagnosis: Jacob had MPS IIIB, or Sanfilippo Syndrome, a rare, progressive genetic disorder that impacts the brain. However, for reasons unknown, the neurologist didn’t share this life-altering information with Jen until three months later, in late December 2024.
“When he finally told me, he said there was nothing he could do for Jacob. That this diagnosis was terminal,” Jen says. “I was devastated. I sat there, trying to process what he was telling me, and all I could think was: what now?”
For Jen, the news marked the beginning of a new mission. She was determined to raise awareness about MPS IIIB, knowing that Jacob’s story could help other families avoid the long road she had endured. “I know that we probably won’t find a treatment or a cure that can benefit Jacob in his lifetime,” she says. “But if our story can bring awareness, find a diagnosis for just one child, then I will feel like we have made a world of difference.”
Despite the heartbreak, there have also been glimmers of hope. Jacob’s diagnosis led Jen to the National MPS Society, an organization that provides support for families and individuals impacted by MPS, and works to award funding to researchers who are investigating treatments for MPS IIIB and other lysosomal storage disorders.
“Connecting with the Society has meant the world to me,” Jen says. “I finally feel like I’m getting help.”
Jacob and Ellie both have Sanfilippo Syndrome and became fast friends.
Jen also takes comfort in her connection with a nearby family whose daughter, Ellie, is close in age to Jacob and also has Sanfilippo Syndrome. The children have become quick friends, and Jen says that the opportunity to connect with another family who understands her journey so intimately has been transformative.
Along with finding new support systems, Jen has been able to secure resources for Jacob over the years that have benefited him immensely. For example, for the last year he has attended a specialized school where he receives one-on-one care tailored to his unique needs. Remarkably, Jen noted that Jacob’s mental regression, a hallmark of Sanfilippo Syndrome, appears to have slowed with the transition into this setting. Respite care and other support services have also provided some much-needed relief for Jen and her family.
While Jen treasures these bright spots, she remains focused on sharing Jacob’s story with the world.
“It has become my life purpose to share Jacob’s story, and to make people aware of MPS,” she says. “My son is wonderful, and I want them to see that—but I also want them to know that it took way too long to find a diagnosis, and that, had we known, we could have given him care that was more fit for his needs. No parent should have to go through what I have gone through—and no child should go ten years without the right support.”
Jen’s advocacy is a testament to her unwavering love and determination. And for Jacob, every day is a reminder of her strength and her purpose—sharing his light with the world, one day at a time.
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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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