“This shouldn’t happen! Especially not to children.”
That’s what you thought when you first heard about Sanfilippo Syndrome. You put yourself in the shoes of these parents who were told that their children will suffer and die from Sanfilippo, and it broke your heart.
But you made the remarkable decision to something to help.
You donated to Cure Sanfilippo Foundation to find a treatment or cure. And your donation is an investment to create a different future.
You can see how your donation is helping cure Sanfilippo Syndrome.
More research is happening than ever before. More clinical trials than ever in the history of Sanfilippo. Including more than 20 projects and multiple clinical trials funded by Cure Sanfilippo in five years. And much more to come.
The community of Dobbs Ferry, NY, turned out on a Saturday morning in November for the 2019 Moonball Kickball Tournament, benefiting Jacob Moon, a local child with Sanfilippo Syndrome.
The second annual Moonball again attracted support from the community for a day of family-friendly kickball, food, and other games. In addition to players, the event was supported by sponsors and volunteers who helped set up, picked up food, manned tables, organized teams, donated items, cleaned up. Students from the middle and high schools helped with the event, and the Mercy College Men’s Lacrosse team refereed the games.
One of the most touching moments of the day was high-school students and teachers organizing a special inclusive “Buddy Ball Game” so Jacob and his friends could join in the fun. Jacob was accompanied by two students who helped him kick the ball and guided him in running the bases. Because of Sanfilippo, this wouldn’t be possible for Jacob without the thoughtful inclusion and accommodation of these students.
“This was definitely one of many highlights of the day,” said Bill Moon, Jacob’s dad. “I loved this for the kids who participated and the volunteers!”
The local news station, News 12 – West Chester, featured the the 2019 Moonball Kickball Tournament.
Last year, Moonball raised $12,000, and they were hoping to surpass that this year. A portion is donated to Cure Sanfilippo Foundation to help fund continued research for a treatment or cure for Sanfilippo Syndrome.
Adam Shaywitz, MD, PhD, has joined the board for Cure Sanfilippo Foundation, bringing additional scientific and treatment development expertise to the organization.
“We are absolutely thrilled to welcome Adam to the board and are grateful for his support of the Sanfilippo community over the years,” said Cure Sanfilippo Board member Valerie Byers, PhD. “His extensive experience in the drug development process for devastating rare pediatric conditions will provide the Foundation with unique and invaluable guidance as we aim to accelerate our impact in the space for children with Sanfilippo Syndrome.”
Adam received his degrees from Harvard Medical School and trained in adult medicine at Massachusetts General Hospital. He subsequently pursued a fellowship in endocrinology, diabetes, and metabolism jointly at the Beth Israel-Deaconess Medical Center and Joslin Diabetes Center where he concurrently pursued postdoctoral studies in molecular physiology.
Adam is Chief Medical Officer (CMO)-in-Residence at BridgeBio Pharma, where he currently serves as CMO for three subsidiary companies: CoA Therapeutics, Aspa Therapeutics, and Adrenas Therapeutics.
Prior to BridgeBio, he spent five years at BioMarin Pharmaceutical as an Executive Director in the Clinical Sciences group. While at BioMarin, Adam developed, designed and led natural history and clinical studies for Sanfilippo Syndrome. Additionally, he played a key role in developing a number of programs aimed at treating a broad range of diseases, including other lysosomal storage disorders. During his tenure at BioMarin, Adam also worked closely with the research and business development teams to develop and broaden the pre-clinical and clinical pipeline.
“I am honored and excited to continue working with the Sanfilippo community in their mission to identify therapies that could make a meaningful impact to patients and families suffering from this devastating disease,” said Adam Shaywitz. “In addition to the urgency and drive that Cure Sanfilippo Foundation brings to their mission, they also possess a sophisticated understanding of what it takes to deliver novel therapies to patients and a willingness to dive in and participate in this process. I am looking forward to being a part of this dynamic and passionate team.”
Last year, Spencer’s Sprinters raised just over $20,000 for Cure Sanfilippo Foundation by running the Genesis Battlegreen Run in Lexington, MA. This year, Spencer’s Sprinters are crushing last year’s fundraising and are on their way to raising $30,000 in advance of the Nov. 3 race day.
LexFUN! and Lexington Neighbors and Newcomers’ Club organize the annual Spencer’s Sprinters effort on behalf of the Smiths, a local family whose son Spencer has Sanfilippo Syndrome.
Like all toddlers, Spencer loves to splash in the pool with his daddy, dance in the yard with his mommy, and pet every puppy dog he can get my hands on. But unlike most boys and girls, he’s battling MPS-III, commonly known as Sanfilippo Syndrome.
Sanfilippo Syndrome is a genetic neurological disorder that can most-easily be understood as “childhood Alzheimer’s.” Both are a death sentence, but where Alzheimer’s strikes people toward the end of their lives, Sanfilippo attacks kids just as they have begun to learn to walk and talk.
There are several teams of researchers around the world who are studying ways to treat Sanfilippo kids like Spencer who lack an enzyme that breaks down natural cellular waste.
The funds raised by Spencer’s Sprinters helps Cure Sanfilippo Foundation architect and fund more research to treat and/or cure this terrible disease, as well as increases awareness of Sanfilippo.
“It is absolutely amazing to see the local community continue to rally around Spencer and his family,” said Glenn O’Neill, President of Cure Sanfilippo Foundation. “Their generous outpouring of love and support for this family means the crucial research for a cure will continue. It also gives hope to every parent of a child with Sanfilippo. We thank Spencer’s Sprinters for their tireless work and wish them a great run on Sunday.”
Spencer’s Sprinters sprinted past their 2019 goal and crossed the finish line raising $33,330 to benefit Cure Sanfilippo Foundation and research to cure Sanfilippo Syndrome with this year’s Genesis Battlegreen Run.
Cure Sanfilippo Foundation is among 107 organizations that co-signed a letter earlier this month to U.S. Rep. Peters (CA) and Rep. Shimkus (IL), thanking them for introducing HR 4144, the Ending the Diagnostic Odyssey Act.
The legislation would allow states to conduct a three-year pilot program to increase the Federal Medical Assistance Percentage (FMAP) rate to provide Whole Genome Sequencing clinical services for children on Medicaid with a disease that is suspected to have a genetic cause.
Eighty percent of all rare diseases have a genetic cause. And rare disease patients average eight physicians and three misdiagnoses over the span of seven years before the correct diagnosis is discovered. This “diagnostic odyssey” causes patients to miss critical windows of opportunity for treatment, improved quality of life, and clinical trials, in addition to experiencing anguish and chronic uncertainty.
“The diagnostic resource that HR 4144 would create expedites early and accurate diagnoses of rare diseases, ending the emotional roller coaster of the ‘diagnostic odyssey,'”said Cara O’Neill, MD FAAP, Chief Science Officer for Cure Sanfilippo Foundation.
“Earlier diagnosis means patients can immediately start treatment, if available, that sustain or improve their quality of life or access a clinical trial for an experimental therapy,” said O’Neill. “This is especially critical in diseases like Sanfilippo Syndrome, where time is not on the side of patients.”
The letter, spearheaded by Genetics Alliance, is also being delivered to other members of Congress, requesting their co-sponsorship of this important bi-partisan bill. Select Senators are being asked to introduce companion legislation in that chamber.
The first-ever gene therapy clinical trails, testing whether the treatment will work in children, are happening for Sanfilippo Syndrome Type A and B after decades of work by scientists, families, and foundations, including Cure Sanfilippo Foundation.
Enabling a clinical trial to happen for Sanfilippo Syndrome Type C is among the priorities of Cure Sanfilippo Foundation. And families of children around the world with Type C are helping.
Recently, Kampen Mot Klocken (Fight Against the Clock), a Swedish Sanfilippo group, raised $23,000 and donated it to Cure Sanfilippo in honor of Eyra who has Sanfilippo Syndrome Type C.
Kampen Mot Klocken raised the funds through creative and sometimes-frigid events throughout the year.
“These funds were raised THANKS to volunteers who arranged dance shows, running events, a farmers day, and even a Christmas Day dip in the freezing ocean!” said Eyra’s mom . “But most of it comes from many small donations from all over Sweden – people who just wanted to help us. We have so much gratitude to both our amazing volunteers and donors.”
“These funds will go directly toward moving the Type C program forward toward a hopeful gene therapy clinical trial,” said Foundation President Glenn O’Neill. “Cure Sanfilippo is so thankful for this support from around the globe.”
Eyra’s family is one of many Type C families globally working to support the Foundation’s Type C program, including the partner families of Connor, Jonah, Mia, and Saga & Maia.
The children and their families who battle Sanfilippo Syndrome have superhero levels of resilience, strength, and courage.
The Superhero Project brings the superhero within children facing serious illness or disability to life through unique art pieces, and has recently captured the superheros that live inside several children with Sanfilippo Syndrome.
Founded in 2016 by Lisa Kollins, The Superhero Project transforms children into superheroes through vibrant posters created by professional artists from around the world. The families are personally interviewed by one of The Superhero Project’s volunteer sidekicks and walked through a series of questions that explore the superhero that lives inside – how they make the world a better place, what they stand for, what tools they need, what they wear, and more. The information is shared with The Project’s professional animators, comic book artists, and graphic designers, who volunteer their time to turn the ideas into reality and create a fully-realized color image of each one-of-a-kind superhero. Each family receives an 11″ X 17″ poster, plus a digital copy. All at no cost to the families.
“People often comment that the children, parents, and siblings facing Sanfilipo Syndrome are ‘superheros,’ so it’s incredibly moving to see that sentiment brought to life. And in a way that’s unique and specific to the personality and passions of each child,” said Glenn O’Neill, President of Cure Sanfilippo Foundation and father of Eliza. “These compassionate artists volunteer their talent and time to create superheros and super stories, which lifts the spirits of children with terminal illnesses and of the parents grasping onto HOPE.”
Recent illustrations bringing to life the inner superhero of children with Sanfilippo Syndrome:
DRAGON MASTER LUKE
This adventurous and outgoing superhero has the best sidekick ever – Toothless! Dragon Master Luke soars through the skies, spreading joy wherever he goes. His special intuition shows him who most needs a loving hand to hold, and his magic shovel helps him scoop up happiness to share. They crayons, markers, and paintbrushes in his tool belt help him create beautiful images that inspire people. Of course, most inspiring is Dragon Master Luke himself and his buddy, Toothless. They have lots in common, from their giant smiles to their AFOs. You can’t miss this dynamic duo – giant silent fireworks (to make sure that even kids with sensitivity to noise aren’t bothered) accompany them along their paths. Inspired by Luke (age 7) and created by Miranda Pavelle.
“It’s so incredibly beautiful, and so much Luke! Luke doesn’t have the biggest attention span, but when I showed him the poster, he just stared at it. He loves Toothless and his shovel so much, and I can only imagine what he thought when he saw himself drawn riding his favorite dragon, holding one of his favorite things.” – Luke’s parents
With a smile that never quits and a heart that’s never met a stranger, Will Power is the newest superhero on the block! He inspires people to never give up and to be thankful for the blessings we have–big blessings like love and family, and little blessings like the perfect slice of peach pie. He runs with lightening speed wherever he’s needed and doesn’t let a locked door stop him. His magic keys give him the power to enter (or to escape!) any room in the universe. Will Power is happy to meet people, help them and make them smile–the world needs more superheroes with the power to connect people like he does! Inspired by W. (age 9) and created by Sarah Chalek.
“We are so grateful for the The Superhero Project and the artist for immortalizing our in-home hero and capturing his personality and energy so perfectly! Will was so excited to see himself as a hero!!!” Will’s parents
Forever Emily carries the power of the whirlwind, the beauty of nature’s branches and the spirit of the stars everywhere she goes. This heart warrior inspires all who meet her with her energy and loving soul – even if she can clear a shelf at Target in seconds, she’s a character you simply must adore. Forever Emily has a collection of water pails that she uses to summon whirlwinds that bring strength to the people around her. She stands for survival; running, climbing and jumping through the night in her sparkly sneakers, free to move and to live in love. Inspired by E. (age 8) and designed by Taryn Cozzy.
The newest superhero in town is sweet and lovable, but don’t be misled – he can destroy a room with his amazing energy in seconds! Super-J is here to remind the world how important friendship is. Protected by his shield and his big moon heart, he’s armed with everything people need to have fun – Uno, friendship bracelets, Goldfish crackers, and more. He flies from place to place with smoke trailing behind. (No flames – safety first!) With the confidence of Buzz Lightyear, the wackiness of Stitch, and a smile that lights up a room, Super-J is ready to grab your hand, make friends, and take you to infinity and beyond! Inspired by J (age 9) and created by his brother and sister. Designed by Eric Angel Pabon.
ELIZA THE INSPIRATIONAL
Perseverance and strength – that’s what this unique superhero so perfectly exemplifies. Eliza the Inspirational is as powerful and joyful as an Olympic swimmer, with energy to spare. Wearing her striped socks and water shoes, she relies on super-speed running to carry her across the ocean waves she commands with a flick of her wrist. Eliza dares to dream of what seems impossible: a world where every child is happy, healthy, strong and free. Perhaps she knows more than we do, since she sees the future with her magical headband, its aquamarine jewel glowing ethereally. She carries a satchel filled with water books that inspire people with their stories of strength and courage – her beautiful eyes and big smile inspire them too! Inspired by E. (age 9) and designed by Sarah Wilson.
HENRY, THE HAPPY HAMMER
When life gives him lemons, this amazing superhero makes lemonade! Henry – The Happy Hammer zooms from place to place with his canine sidekicks Bailey and Carl hitching a ride. With his courage and strength, he protects his family from foes large and smile, and reminds them to look for the bright side of life. He has an amazing ability to be happy in almost every situation! With a smile as bright as the twinkly stars on his shirt and in the skies, Henry – The Happy Hammer will laugh his way right into your heart. Created by H. (age 5) and designed by Jen Davreux.
As of Oct. 7, Cure Sanfilippo Foundation has again passed the $1 million-raised mark in a year, thanks to the 70+ partner families and the generous donors nationally and globally who are committed to finding a treatment or cure for Sanfilippo Syndrome.
This is the fourth year the Foundation has raised more than million dollars, which is remarkable given that it was founded in late 2013. And there are no plans to slow down in the final three months of the year in order to push towards the annual goal of $2 million.
“The research, projects, and clinical trials that these donations enable the Foundation to fund are helping continue to accelerate medical options for children and HOPE for their families and parents,” said Glenn O’Neill, President and father of Eliza, MPS IIIA. “I’m truly humbled and in awe of the amazing people who donate to help us cure or treat this disease.”
In recent years, the activities and hardwork by families of children with Sanfilippo Syndrome and their friends has created significant momentum. In 2013, there were no clinical trials happening for Sanfilippo Syndrome. Now, there are multiple. More than ever, a cure feels inevitable among the Sanfilippo community. And donations are what will dictate how fast that new future happens.
“Every single donation, no matter its size, is so special,” said O’Neill. “Each one brings us a step closer to saving lives and to giving families better days, and more good days, with their children.”
Three years ago, Glenn and Cara O’Neill took the phone call that would change their family forever.
A call letting them know whether their daughter Eliza would be permitted in a possibly life-saving clinical trial for Sanfilippo Syndrome, a rare, genetic, and fatal neurodegenerative disease likened to a childhood Alzheimer’s.
Thankfully, the news was good; Eliza was accepted into the first-ever gene therapy clinical trial for Sanfilippo Syndrome, Type A, conducted by Abeona Therapeutics and Nationwide Children’s Hospital and followed by a trial for Type B. (NOTE: Both clinical trials are still enrolling patients.)
Months later, Glenn and Cara decided to share that raw and life-changing moment in the hopes of spreading awareness to gain more funding for research for the many Sanfilippo children suffering and in need of a chance at life.
Today, the video continues spreading awareness with people still sharing and viewing it. In April 2019, it surpassed 3 MILLION views on YouTube.
The video also sparked extensive interaction and discussion, with 19,000 likes, 1,800 dislikes, and more than 2,000 comments.
One of the most-common comments was the of question of why the O’Neills chose to record and share the moment. The O’Neills directly responded to the commenters with a thoughtful explanation in the hopes of providing insight to their decision:
“Any time during our journey where we feel a moment is going to be special, we video it so that perhaps we might use it to spread more awareness to gain more funding for research for the so many children suffering and in need of a chance at life. … We will film and post any personal moment if we feel it will help the cause to Cure Sanfilippo and get more funding for clinical trial options to save children.”
“We used to be a private family, but we’ve had to change that to try to get attention for this rare disease. I truly hope no one ever finds themselves in the position we and other families are, and the desperation of having your beautiful child with a rapidly degenerative terminal brain disease with no cure or treatment. Perhaps you understand now why we posted this…even if you don’t agree.”
The thought leadership of Dr. Cara O’Neill, Chief Science Officer at Cure Sanfilippo Foundation, a pediatrician, and mother to a daughter with the rare disease Sanfilippo Syndrome (MPS III), in the rare disease space is being recognized at an international level.
Each year, WORLDSymposium recognizes one individual for their patient advocacy leadership in the field of lysosomal disease. Dr. O’Neill is the recipient of the 2020 Patient Advocate Leader Award, which will be presented WORLDSymposium 2020 on Feb. 12, 2020.
The award, which began in 2016, recognizes an individual for their direct contribution to lives of patients and families dealing with a lysosomal disease through disease awareness and education, community mobilization, non-profit development and/or good governance activities, patient care, and support programs. Past recipients include remarkable leaders such as Barbara Wedehase, former Executive Director of the MPS Society (2016); Christine Lavery, Group Chief Executive for the UK Society for Mucopolysaccharide Diseases (2017); Jack Johnson, Executive Director of the Fabry Support & Information Group (2018), and Mark Dant, Chairman of the EveryLife Foundation for Rare Diseases and founder of The Ryan Foundation (2019).
“It is a great honor to receive this award, and I am humbled to be among past recipients of such high caliber and contribution,” said Dr. O’Neill. “Cure Sanfilippo Foundation has found many great partners interested in collaborating with us on new clinical strategies, improved patient input, and pathways for faster diagnosis, which benefits all families dealing with Sanfilippo Syndrome, as well as patient communities in other diseases.”
Dr. O’Neill’s uniquely-paired career and life experiences allow her to bridge gaps between scientists, clinicians, industry, and families, helping foster patient-centered research and future translational paths for rare disease treatments.
She leads patient-focused research efforts within Cure Sanfilippo and has presented at international conferences and authored peer-reviewed journal articles. In addition, she collaborates with other non-profit groups on mutual advocacy and research interests, as well as oversees the Foundation’s funding of external scientific programs.
Dr. O’Neill leads in developing innovative integration of patient perspective and technology into study design and pioneering support for pediatricians in diagnosing rare diseases early, such as:
Conducting the first-ever Sanfilippo Caregiver Preference Study;
Piloting The GAPP Project, using cutting-edge facial recognition technology in pediatric clinics to accelerate accurate diagnosis and access to specialized geneticist for a wide range of genetic conditions;
Collaborating with Sanfilippo Children’s Foundation (Australia) to create Global Clinical Management Guidelines for Sanfilippo, a crucial clinician tool as there is only scarce, fragmented management guidance currently available; and
Leveraging technology, such as wearable devices and video capture of disease symptoms (gait, motor skills, speech, social interaction), to improve the quantity and quality of date used to evaluate experimental therapies.
“Her work has broader application than just Sanfilippo Syndrome. Many of the clinical and scientific strategies that O’Neill leads could be applied to multiple diseases, even beyond rare diseases, making her contributions to the scientific community exceptional,” said Dan Fraley, Chair of Cure Sanfilippo Foundation.
“This is fantastic news and a well-deserved honor for Dr. O’Neill. It has been a true inspiration to work with her on initiatives to improve the lives of patients with Sanfilippo Syndrome and their families,” said Wayne Pan, MD PhD MBA, Medical Director/Global Medical Affairs for BioMarin. “It is wonderful to see the lysosomal storage disease community recognizing her for all of your contributions.”
Created in 2014 by O’Neill and her husband Glenn, Cure Sanfilippo Foundation has already raised more than $8 million through grassroots and viral fundraising which has helped fund more than 20 research projects, including the first-ever gene therapy clinical trials for Sanfilippo Syndrome. A complete list of funded projects can be viewed at CureSFF.org/Grants.