DURHAM, N.C. (February 5, 2025) – The National MPS Society is pleased to announce the appointment of Dr. Scott Loiler as its new Chief Scientific Officer (CSO). With over 30 years of experience in virology and gene therapy, Dr. Loiler brings a wealth of expertise to the organization, furthering its mission to advance research and therapies for patients in the mucopolysaccharidosis (MPS) community.
Dr. Loiler has played a critical role in developing therapies for more than nine indications, including MPS IIIA, IIIB, Zolgensma, and Elevidys. He joins the Society from Apic Bio, where he served as President and Chief Technology Officer, successfully leading the development of the company’s SOD1 ALS gene therapy—now licensed to UniQure for continued clinical development.
A recognized leader in AAV gene therapy, Dr. Loiler has worked alongside pioneers in the field, specializing in vector design, capsid modification, manufacturing, analytical methods, and regulatory processes. His extensive experience will be instrumental in guiding the Society’s research initiatives, strengthening partnerships, and accelerating the development of transformative treatments.
“We are thrilled to welcome Dr. Loiler to the National MPS Society as our new Chief Scientific Officer,” said Terri Klein, CEO and President of the National MPS Society. “His expertise and passion for advancing research in rare diseases will be instrumental in driving our mission forward. As we continue to expand our impact, he will play a critical role in shaping our scientific strategy, fostering collaboration, and accelerating progress toward better treatments and outcomes for those affected by MPS and ML. We look forward to the leadership and innovation he will bring to our team.”
As CSO, Dr. Loiler will oversee the Society’s Research Grants Program, supporting a range of initiatives from public health-based newborn screening to drug evaluation and approval policies. His leadership will drive innovation, ensuring that scientific advancements translate into meaningful outcomes for individuals and families affected by MPS.
“I am honored to join the National MPS Society and contribute to the vital work being done to support patients and families,” said Dr. Loiler. “I look forward to collaborating with the Society’s talented team to advance research and bring new therapies to patients.”
For more information about the National MPS Society and its research initiatives, visit www.mpssociety.org.
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.
Do you have MPS or ML, or know someone who does? Do you want to share your story? Click here to fill out a submission form for an opportunity to be featured on our blog.
Each year, we remember individuals with MPS or ML who have passed away but remain in our thoughts and hearts. We invite families and loved ones to share their memories with others.
Through the Angels Among Us publication, we encourage you to join the community in lifting up, remembering and honoring their lives as you read their names and reflect upon their memories.
Please complete this form by April 1, 2025 for your entry to be added to this year’s publication. We ask that you submit a new entry each year, as we do not reuse submissions from previous editions.
The 2024 publication is accessible below. This publication is available in a smaller format (standard resolution) for faster download or high resolution for those who want to print a copy.
Angels Among Us: Standard Resolution
Angels Among Us: High-Resolution
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.”
Do you have MPS or ML, or know someone who does? Do you want to share your story? Click here to fill out a submission form for an opportunity to be featured on our blog.
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.
Do you have MPS or ML, or know someone who does? Do you want to share your story? Click here to fill out a submission form for an opportunity to be featured on our blog.
We hope you are planning on joining us in Orlando, FL, from December 19-21, 2024, for our 38th Annual Family & Scientific Conference, or for our SPIRIT Conference for adults with MPS and ML! Part of the magic of our conferences this year – aside from celebrating 50 years! – are their proximity to Walt Disney World. We truly hope that our attendees will take advantage of this fact, and spend some quality time with their families before or after sessions on Disney property.
Free Things to Do at Disney World
Disney World can be pricey, but there are still fun, free things that families can do in and around the parks to make their experience magical:
#1. Get a Free Button from your Resort or Guest Services
Sometimes you might see people walking around Disney World with a giant button that might say something like, “It’s my Birthday,” or “I’m Celebrating!”
If you want one of these buttons, all you have to do is let a cast member know at any guest services booth: just let them know if you’re here for a birthday, anniversary, or whatever it is you’re celebrating!
Note: Sometimes (not as much as they used to pre-Covid, but sometimes!) you will get a little extra magic because you’re wearing the button, like a free cupcake for your birthday.
Ride the Skyliner
The Disney Skyliner is a fan favorite at Disney World! It was added as a form of transportation in 2019, and can be fun to ride (unless you are afraid of heights, in which case you probably shouldn’t…).
You do not have to be staying at a Disney resort to take advantage of all their free transportation options. In fact, riding the free transportation options takes up a good portion of this list (because they’re so much fun!).
You can ride the Skyliner to EPCOT, Hollywood Studios, the Art of Animation & Pop Century Resorts, the Caribbean Beach Resort and the Riviera Resort. You can also access the Swan & Dolphin Resorts, Yacht and Beach Club Resorts and the Boardwalk Resort via the EPCOT Skyliner.
Pro Tip: Ride the Skyliner over EPCOT at night around 9 pm to see the fireworks!
Ride the Boats
The boats are a fun and relaxing way to spend an afternoon.
You can ride a boat from the Magic Kingdom entrance to several of the resorts across the lake, including the Polynesian, Grand Floridian, Fort Wilderness and Wilderness Lodge. You can also ride a boat from Hollywood Studios and the back entrance of EPCOT to the Boardwalk, Yacht & Beach Clubs and Swan & Dolphin Resorts.
If you’re hanging out at Disney Springs, you can take a boat across the lake to Saratoga Springs, or downriver to Old Key West or Port Orleans.
Good to Know: You do have to go through security to access most of the boats.
Pro Tip: Ride the boat from Polynesian or Grand Floridian Resort around 9 pm to see the fireworks from the water.
Ride the Monorail
Another fun form of transportation is the monorail. Perhaps not quite as fun as riding the boats or the Skyliners, it’s still free. It’s also super magical if you can time it just right to see the fireworks (but you only get the view for a second).
You can take a monorail from the Magic Kingdom entrance to the Contemporary, Polynesian and Grand Floridian resorts. You can also get a monorail from the entrance to EPCOT that goes to the Transportation and Ticket Center, where you can transfer to the resorts monorail.
Explore the Boardwalk
All Disney resorts are fun to visit, but the Boardwalk Resort is the best. On the back of Disney’s Boardwalk Resort is an actual boardwalk, full of restaurants, stores, games and entertainers. And it’s all situated on a picturesque lake!
There is so much to do at the Boardwalk. You can rent bikes, play the carnival games, visit the dancehall, or just enjoy the atmosphere. It’s also a great place from which to grab a boat or ride the Skyliner.
Visit All the Disney Resorts
The best thing to do on a free day at Disney World is to visit all of the Disney resorts, or in other words, go resort hopping.
Each resort has its own charm and style, with unique decorations, gift shops, and restaurants. The Animal Kingdom Lodge even has real animals wandering around the grounds (fenced in, of course!).
Besides just exploring the lobbies and shopping in the gift shops, there are a lot of other free things to do at Disney at the resorts, like pin trading, and other resort activities.
Pin Trade Around the Resorts
Pin trading is popular at Disney. Guests can buy souvenir pins in any gift shop on property. You can also find lots of pins online, which people like to do beforehand so that they have a lot to trade.
Every gift shop and front desk has a pin board you can ask to see. If you find any pins on the board you like, you can trade one of your pins for it! Some resorts even have secret pin boards, so you pick a number and get a surprise pin (but you don’t have to trade for it if you don’t like it).
Try Some of the Resort Activities
There is always a lot going on at any given Disney resort. You can find a list of activities at each resort posted by the pool.
Some of these activities are going to cost money and require advance registration, like an animation drawing class. Others will be free, like roasting marshmallows by the fire (though you can pay for chocolate and graham crackers).
Be sure to check out the posted activities, or ask at the front desk.
Tour a Disney Vacation Club Property
Another free thing you can do at Disney is to tour a Disney Vacation Club property. The Disney Vacation Club (DVC) is a program that lets you buy a timeshare in a Disney property, and then use points to stay at Disney year after year. You can sign up for a tour in the lobby of any hotel, or at any theme park. Disney will provide transportation to take you to the site you choose for the tour, and at the end you will get a free pin!
Note: don’t sign up for a DVC membership (that is NOT free!)
Visit Disney Springs
Disney Springs is the huge entertainment and shopping complex run by Disney. It is on the lake across from Saratoga Springs Resort, and it is HUGE! There is so much to do there!
It’s free to enter Disney Springs (but you will have to go through a security checkpoint). But then there are a lot of things to spend money on once you’re there! From sandwiches at Chef Mickey’s to a show by Cirque du Soleil, or fine dining on the water to a convertible boat ON the water, there are so many things to do at Disney Springs. You could easily fill up a whole day here.
Pro Tip: Don’t forget to bring pins to trade! A lot of shops will have pin boards, or cast members with pin lanyards.
Watch the Fireworks!
The best way to end your day after exploring all the free things to do at Disney is to watch the fireworks (for free, of course!). Here are some of the best free spots to watch the Disney fireworks:
About the Author: Julia Rexford is the cousin of Society board member Jason M., and daughter to Wayne, both of whom have MPS II. She (along with Wayne, Jason and the rest of their family) has been to Disney World countless times over the years, and has developed some content to help families attending the 38th Annual Family & Scientific Conference or SPIRIT Conference have the best Disney experience possible. Julia is also the author of a travel blog, where you can find more Disney insights and tips: Planned Wanderings.
We hope you are planning on joining us in Orlando, FL, from December 19-21, 2024, for our 38th Annual Family & Scientific Conference, or for our SPIRIT Conference for adults with MPS and ML! Part of the magic of our conferences this year – aside from celebrating 50 years! – are their proximity to Walt Disney World. We truly hope that our attendees will take advantage of this fact, and spend some quality time with their families before or after sessions on Disney property. We hope that this resource will be helpful, but we also recommend reviewing Disney World’s free Accessibility Planning Guide, or visiting Disney World’s dedicated accessibility web pages for guidance on planning your trip.
How to Get to Disney World
Where to Park at Disney World
If you are driving yourself to Disney and are not staying at a Disney Resort, the best place to park is Disney Springs, which has free parking and is located across the street from the host hotel for the 38th Annual Family & Scientific Conference. Guests can get a bus from Disney Springs to any Disney Resort, and from there can use the free transportation options to get anywhere on Disney property. Just be sure to budget enough time for transportation!
Free Transportation at Disney World
Once you get on Disney property, there are many free modes of transportation, including:
All forms of transportation at Disney are handicap accessible! Just let the cast member at the entrance know you will need an accessible ride and tell them about any mobility aids that may be riding with you, and they will direct you to the best boarding area.
Further Reading
If you would like more information about getting around Disney World, the author has an even more in-depth article on her blog about Disney transportation.
If you have any more questions about visiting Disney World, check out the Plan Disney blog, with lots of frequently asked questions. You can even ask your own question!
About the Author: Julia Rexford is the cousin of Society board member Jason M., and daughter to Wayne, both of whom have MPS II. She (along with Wayne, Jason and the rest of their family) has been to Disney World countless times over the years, and has developed some content to help families attending the 38th Annual Family & Scientific Conference or SPIRIT Conference have the best Disney experience possible. Julia is also the author of a travel blog, where you can find more Disney insights and tips: Planned Wanderings.
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.”
Do you have MPS or ML, or know someone who does? Do you want to share your story? Click here to fill out a submission form for an opportunity to be featured on our blog.
We hope you are planning on joining us in Orlando, FL, from December 19-21, 2024, for our 38th Annual Family & Scientific Conference, or for our SPIRIT Conference for adults with MPS and ML! Part of the magic of our conferences this year – aside from celebrating 50 years! – are their proximity to Walt Disney World. We truly hope that our attendees will take advantage of this fact, and spend some quality time with their families before or after sessions on Disney property. That being said, we know that Disney World is a HUGE place and it can be overwhelming if its your first time visiting. With that in mind, Julia R. (more information on Julia at the end!) has been so kind as to develop a basic rundown on all things Disney. We also recommend reviewing Disney World’s free Accessibility Planning Guide, or visiting Disney World’s dedicated accessibility web pages for guidance on planning your trip.
Disney World Overview
There are four theme parks, two water parks, multiple mini golf courses, shopping venues, and resort hotels on the Walt Disney World property in Orlando, Florida. Also nearby are Universal Studios and SeaWorld.
Disney Theme Parks
Disney Springs
Disney Water Parks
Disney Mini Golf Courses
Accessibility at Disney World
Disney World prides itself on being one of the most accessible theme parks in the world. Guests who have accessibility needs are encouraged to visit Disney’s Accessibility pages on their website for guidance on mobility needs, service animal guidelines, transportation guides, and more. For additional information or requests, guests can also contact Disney’s dedicated disability services team:
Disney World Transportation
There are a lot of free transportation options available once you arrive on the Disney World property. If this is your first time at Disney, keep in mind it will take a while to get from place to place. If you are staying at a Disney resort, you can pick up transportation there. If you are not staying on property, you can drive to Disney Springs (where it is free to park), or take an Uber or shuttle from your hotel.
Disney Lingo
There are some phrases you might hear thrown around if this is your first time at Disney that you don’t quite understand. I’ll explain some of the common Disney lingo, so you know what’s going on:
Download the My Disney Experience App
A lot of things are done via app. If you download the My Disney Experience app before your trip, you can use it to book tickets, make dining reservations, and reserve a spot in a virtual queue. You can even use the app as your room key! In fact, the app does most things that a magic band would do, which is why you don’t have to purchase a magic band.
If you don’t want to use the app, you can also create an account online, where you can link your ticket reservations and create dining reservations.
You can link up your account (online or in the app) with other family members who also have a My Disney account.
Christmas at Disney World
It’s fun to be at Disney World so close to a major holiday, but it can be crazy crowded!
One of the most famous Christmas decorations at Disney World is the iconic giant gingerbread house in Disney’s Grand Floridian Resort, for which they start baking the gingerbread in July! Luckily, the gingerbread they sell in the house is freshly baked!
You can also buy tickets for Mickey’s Very Merry Christmas Party. This will get you into the park after hours, where you can indulge in holiday treats and enjoy the festive atmosphere!
I have never attended any of the holiday events, but I have been to Disney World in December, and, fair warning, it was the absolute MOST crowded I’ve ever seen Disney World! The closer to Christmas it is, the more crowded the parks will be, so be prepared and set realistic expectations for crowds, wait times, etc.
Disney World Tips
I want to end this article with a couple of tips to help you get the most out of your time in Disney World:
I hope this Disney World guide will help get you started planning your first trip to Disney (or your second) (or your third…)!
About the Author: Julia Rexford is the cousin of Society board member Jason M., and daughter to Wayne, both of whom have MPS II. She (along with Wayne, Jason and the rest of their family) has been to Disney World countless times over the years, and has developed some content to help families attending the 38th Annual Family & Scientific Conference or SPIRIT Conference have the best Disney experience possible. Julia is also the author of a travel blog, where you can find more Disney insights and tips: Planned Wanderings.
Our 2024 Fall edition of Courage is now available electronically to view or download! Click to read the latest information in research, clinical trials, family support, development, advocacy, and more. Thank you for sharing your photos and stories with us!