The Latest News
Most-Recent Foundation Updates
Foundation Update – October 2019
Foundation Update – October 2019
“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.Check out the IMPACT REPORT.
Get a deeper look at what your generosity has already fueled. See the faces you are helping and the future you are creating.
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Thank you for your generous support. A cure is closer than ever because of you.
Deepest thanks,
Glenn O’Neill
Dad, Donor, President Cure Sanfilippo Foundation
Foundation Update – July 2019
Foundation Update – July 2019
FUNDRAISING PROGRESS UPDATE
Through the end of June, the generous support of donors and hard work of partner families has raised $631,367 in 2019. AMAZING!
We’re immensely thankful for the time our partner families and their friends and loved ones devote to hosting events and the treasure that people, strangers, relatives, and friends alike, have contributed. Large or small, every donation and fundraiser counts. Your contributions are turning hope into action to save children.
People support the Foundation in so many ways – collecting change, making donations in lieu of wedding favors, involving their local school and businesses – each an expression of their own personalities and kindness. One that continues to amaze us are the people who create their own Facebook fundraisers on behalf of the Foundation’s mission, often forgoing their birthdays to fund research to cure Sanfilippo. And they’re often relatives and friends of Sanfilippo families, who have chosen to purpose over presents.
And this year, more than a dozen Sale2Save lemonade, yard, and bake sales by families, friends, and supporters collectively raised nearly $10,000. And while the “official date” was June 15, it is a simple fundraiser that can be hosted anytime this summer.
RESEARCH + SUPPORT PROJECTS UPDATE
We’re working daily to fill gaps in knowledge and information among the medical and scientific communities and general public and to directly influence the pace, focus, and measurement of research of patient-focused treatments and therapies for children with Sanfilippo Syndrome.Scientific & treatment projects on the horizon
Thanks to your support, we’re working on several new research projects to tackle aspects of treating Sanfilippo, including the inflammation side effect, the body’s production of heparin sulfate (the sugar that can’t be broken down), and next-generation gene therapy. We hope to have details of one project solidified soon so we can share the news with you. But science is an ever-evolving field, so moving things forward is a bit like aiming at a shifting target, which naturally takes longer and requires careful attention to details. We’re committed to getting it right and bringing this new research to kids as quickly as possible.
Beyond new research, your funding of past projects continues to make a difference. For example, the funds that helped launch the gene therapy clinical trial in 2016 continues to benefit Sanfilippo kids and their families today. The company is still running the trial, adding new children, giving even more families a chance at changing fate. And it’s all because of you. Your investment made the clinical trial initially happen.
Visit the Foundation’s research page for details about the projects underway.INFLUENCING COMMUNITY & AWARENESS
SPEEDING DIAGNOSIS BY EMPOWERING PEDIATRICIANS
Families need faster, accurate diagnosis so they can access clinical trial opportunities as soon as possible. A key to this happening is bridging the gap in pediatricians’ access to genetics information, especially regarding rare diseases. To help bridge this gap, Cure Sanfilippo Foundation has partnered to pilot the Genetics Access in Primary Pediatrics (GAAP) project, linking Greenwood Genetic Center’s (GCC) clinical geneticists and genetic counselors to pediatricians through the Faces2Genes app.
Face2Gene analyzes patient photographs using machine learning and computer algorithms to help make challenging diagnoses. Through the GAPP pilot project, the Face2Gene improves patient wait times and allows a pediatrician to identify patients through a list of genetic “triggers” or features that may indicate a need for further genetic evaluation.
If the patient’s family elects to be a part of the GAPP pilot project, the pediatrician uploads facial photos and other clinical information to Face2Gene where it can be securely shared with GGC clinicians for review. The geneticist can suggest appropriate referrals or genetic testing that can be initiated by the pediatrician in advance of the genetics appointment. Urgent referrals can be prioritized, and when the patient does come in for their genetics consultation, initial test results have already been completed, saving valuable time.
STORY OF HENRY & BLAIR RAISES AWARENESS
In May, the story of Henry’s devotion to his beloved Blair, even in the final moments, was shared with the world. Learning about Sanfilippo Syndrome through the eyes of Henry, the video was viewed nearly 300,000 times and shared more than 2,400 times, bringing greater awareness about the need to cure this disease.
KEEPING SANFILIPPO IN THE SPOTLIGHT
Being seen is part of being known, which is why we accept opportunities to represent the Sanfilippo community and speak about the Foundation’s mission. Most recently, Chief Science Officer Cara O’Neill was the dinner keynoter at the National Institute of Health’s CNS Immunogenicity Meeting, President Glenn O’Neill was a featured panelist at the Rare Innovation & Partnering Summit, and VP of Marketing Katie Walton participated in the BioMarin Patient Advocacy Forum alongside other rare disease advocacy organizations, including Jennifer Siedman of Ben’s Dream – Sanfilippo Research Foundation and the Courageous Parents Network.
While in Washington, DC, for the CNS Immunogenicity Meeting, Cara took advantage of the meetings on Capitol Hill to deliver the parent perspective of Sanfilippo and rare disease to Congressional offices, including U.S. Senator Tim Scott (R-South Carolina) who sits on the Committee on Health, Education, Labor, and Pension.
ORGANIZATIONAL UPDATE
We are a network of Sanfilippo families that continues growing
We are incredibly proud and deeply humbled by the more than 65 partner families who have chosen to align with the Foundation’s efforts. They *are* the Foundation. And every day, we endeavor to represent and fight for their best interests.
Competing for Chan Zuckerberg Initiative’s “Rare As One” project
The Chan Zuckerberg Foundation has invited patient-led 501(c)(3) organizations to apply for a two-year funding opportunity to develop and launch collaborative research networks in partnership with clinicians and scientists. This opportunity would help the Foundation expand the impact of our thought-leadership and innovative approaches regarding patient involvement in scientific research and empowering clinicians with genetics tools and resources, further improving evaluation of therapies and getting children diagnosed sooner.Thank you for fighting to save children and their families
Foundation Update – April 2019
Foundation Update – April 2019
FUNDRAISING PROGRESS UPDATE
Thanks to your tremendous support, $400,000 was raised in first-quarter 2019, largely from fundraisers and events hosted by several of the Foundation’s partner families. Large or small, every fundraiser and donation counts. And we’re immensely thankful for the time our partner families and their friends and loved ones devote to hosting events and the treasure that people like you — strangers, relatives, and friends alike — have contributed. You can’t help but believe in the goodness of our world when you see generosity and kindness like this.Since the Foundation was created in late 2013, fundraising has largely relied on a few main sources: people generously supporting partner families leveraging their personal networks and viral campaigns attracting grassroots support. To continue growing as a Foundation, we’re exploring other sources for donations and income to support our mission, including options for private foundation grants. It’s a new realm that we’re diving into, but we have high hopes.
RESEARCH + SUPPORT PROJECTS UPDATE
We’re working daily to fill gaps in knowledge and information among the medical and scientific communities and general public and to directly influence the pace, focus, and measurement of research of patient-focused treatments and therapies for children with Sanfilippo Syndrome.Scientific & treatment projects on the horizon
- Thanks to you support, the Foundation is working to start a clinical trial in 2019 for a new treatment method to reduce inflammation of the brain, a severe effect of Sanfilippo Syndrome that causes brain damage, which could improve a child’s quality of life.
- Work is underway to plan and fund a clinical trial for a new gene therapy treatment.
- In addition to these, the Foundation is constantly seeking and collaborating with others on additional research and treatment projects, including some under consideration that show promise and are going through our due-diligence review process.
Conducting first-ever caregiver preference study
The researchers, the U.S. Food and Drug Administration (FDA), drug companies, and doctors studying Sanfilippo Syndrome don’t live with the disease like the families do. Which can cause mis-alignment regarding measuring treatment benefits. To bridge that gap and help investigators better appreciate meaningful change and benefit, the Foundation launched the first-ever Caregiver Preference Study for Sanfilippo Syndrome. Tapping the Sanfilippo community, Cure Sanfilippo Foundation asked parents and caregivers to share the most meaningful symptoms to address in developing therapies for children with Sanfilippo Syndrome. Three in person focus groups, and more than 150 survey responses from 15 different countries were submitted, creating a critical mass of data. The information will be developed into a report that’s distributed to regulatory and industry, and available globally, so they can better align research end points.
Read more about the Caregiver Preference project.
Developing global clinical management guidelines
Among the Foundation’s current efforts to elevate awareness among the medical and scientific communities, we are collaborating with Sanfilippo Children’s Foundation (Australia) to create Global Clinical Management Guidelines for Sanfilippo Syndrome.Doing so creates best practice guidelines critical for patients and health care professionals in the management of rare diseases where scarcity of expertise is a well-known and far too-common cause of late or incorrect diagnosis and care. Such guidelines allow physicians and other health care professionals to make recommendations based on best-available evidence, improve consistency of diagnosis and clinical management across treatment centers, and enable affected families to make informed decisions regarding treatment.
Having guidelines available shortens the time to diagnosis in rare diseases due to the increased awareness and the available resource to clinicians around the world. As several programs related to Sanfilippo Syndrome move through the translational pipeline to clinical trial, the need for such clinical guidelines has become increasingly evident.
INFLUENCING COMMUNITY & AWARENESS
Advocating for families and patients with FDA
Supported by your donations, our team works tirelessly towards the mission to cure Sanfilippo, and it is getting noticed. Recently, Chief Science Officer (and mom to Eliza, MPSIII) Cara O’Neill was invited to join industry partners for a meeting with the FDA. Her ability to provide a patient-advocate perspective and voice, in addition to medical and scientific expertise, makes her a sought-after mind to have at the table regarding the path of potential treatments for Sanfilippo Syndrome. Clarifying roadmap for newborn screening of Sanfilippo
Cara also attended the 2019 Newborn Screening Bootcamp in early April to represent Sanfilippo Syndrome. She was able to gain valuable insight from those ahead of us on the road to be included on the newborn screening test, and how they were able to accomplish it. “We’ve got a lot of work to do for MPSIII, but seeing and helping forge the path ahead is exciting!” said Cara.Thank you to EveryLife Foundation for a travel stipend for Cara to attend this important informational session.
ORGANIZATIONAL UPDATE
We are a network of Sanfilippo families that continues growing
We are incredibly proud and deeply humbled by the more than 65 partner families who have chosen to align with the Foundation’s efforts. They *are* the Foundation. And every day, we endeavor to represent and fight for their best interests.
Be a ripple in the pond; sell lemonade during nationwide Sale2Save fundraiser in June
Every year, you — the families, friends, and supporters of Sanfilippo children — host garage, lawn, lemonade, and bake sales around the country to support research to cure Sanfilippo Syndrome. Join us for this year’s Sale2Save on Saturday, June 15.
Nationwide events like these are powerful because of their scale. Think of it like this: if you are one of 20 people holding a Sale2Save in your front yard and generate $500 each, that amounts to $10,000! Image if you’re one of 50 people raising $1,000 … $50,000! Be a part of that magic. Adding a new member to Cure Sanfilippo team
After nearly five years as a volunteer leader with the Foundation, Katie Walton joined full time as VP of Marketing to enhance our ability to professionally present and drive the Foundation mission, values, and accomplishments, in a customized way, to a variety of audiences via different mediums. Your support of the Foundation enables us to make this addition to the team, which will lead to more engagement and more ongoing support to move our mission forward, faster; always our goal. Other News
Viral video still circling the globe, but not the one you’re probably thinking of
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. And they had a personal camera documenting the moment. Thankfully, the news was good; Eliza was accepted. 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 and you and other people are still sharing and viewing it. Earlier this month, it surpassed three million views on YouTube. Thank you for continuing to help spread awareness.
“Saving Eliza” video launched to the world five years ago
On April 2, 2014, the three-minute “Saving Eliza” video was released. A gamble. A shot in the dark. But filled with hope.
In the first 15 days, you helped the video raise $500,000, every dollar going to fund research to help all children with Sanfilippo Syndrome. By the summer, your support drove Saving Eliza to become GoFundMe’s first campaign to ever reach the $1 million-raised mark. In late 2014, it became the first to reach $2 million, thanks to your continued sharing and giving.
As a result of your generosity, the gene therapy clinical trial was funded and at least 15 children, including Eliza, have since been treated.
Research Projects & Grants
Thanks to your incredible support, the Sanfilippo community is pleased to see several potential therapies moving towards human trial. Our most-recent projects and grants are below. Visit the Research & Grants page for the complete list of projects and grants funded by Cure Sanfilippo Foundation.Why and how to achieve novel outcomes in neurodegenerative gene therapy trials
Why and how to achieve novel outcomes in neurodegenerative gene therapy trials
Picking outcome measures for neurodegenerative gene therapy trials in rare disease is difficult. The conditions often have a lot of heterogeneity, relatively small sample sizes, and rarely disease-specific outcome measures. That is why “outside the box” thinking is necessary, and Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD FAAP, shared how novel outcomes could be used to expand and improve evaluation of gene therapy trials for neurodegenerative diseases at the Lysogene/Sarepta satellite symposium during SSIEM 2019 last week in Rotterdam, Netherlands.
Most of the measures used in childhood neurodegenerative conditions are drawn from more general measures based on normal neurodevelopment and behavior patterns, rather than hallmarks of particular disease. So rare diseases are always being compared to “Normal.” But is that a fair comparison knowing that these patients have had chronic ongoing brain injury to the immature developing brain?
“We have to do a better job of matching endpoints with the patient’s needs across the spectrum of any given disease,” urged O’Neill.
The key is meeting the patient needs, not the clinician’s needs or fulfilling assumptions that have been made in the past about patients’ need.
“We must get as close as we can to discerning what is going to make their life better, for however long that is.”
Sharing early data from the Foundation’s MPS III Caregiver Preference Study, O’Neill noted that the more than 160 Sanfilippo caregivers across 14 different countries listed pain, communication, mobility and hyperactivity among their treatment priorities. Additionally, what caregivers prioritize changes along the course of the disease.
O’Neill detailed how the Foundation has partnered with Aparito, Casimir Trials, and Lysogene to conduct an exploratory study of novel outcomes for MPS IIIA running in parallel to AAV10-SGSH intracranial gene therapy trial. The study uses frequent video capture by caregivers to monitors specific disease hallmarks and priorities identified by the Caregiver Preference Study in the child’s familiar environment to capture the child’s best ability.
The patient-reported outcome videos study has allowed detection of subtle, but meaningful, incremental changes and appears feasible for longer term monitoring of real-world functioning and patient status, reported O’Neill.
Insights to Help Clinicians Understand Caregiver Burden with Sanfilippo
Insights to Help Clinicians Understand Caregiver Burden with Sanfilippo
A group of international clinical advisors with expertise in the care of pediatric patients with Sanfilippo and lysosomal storage disorders met to begin filling this void of understanding and create best-practice guidance for clinicians. Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD FAAP, was among the advisors. As a mother of a child with Sanfilippo, Cara brought first-hand caregiver perspective to the collaboration in addition to scientific and medical expertise.The group reviewed key aspects of caregiver burden associated with Sanfilippo B by identifying and quantifying the nature and impact of the disease on patients and caregivers. They co-authored recommendations based on findings from qualitative and quantitative research, which were recently published in the Orphanet Journal of Rare Diseases.
The article’s authors report that:
“Providing care for patients with Sanfilippo B impinges on all aspects of family life, evolving as the patient ages and the disease progresses. Important factors contributing toward caregiver burden include sleep disturbances, impulsive and hyperactive behavior, and communication difficulties.
Caregiver burden remained high throughout the life of the patient and, coupled with the physical burden of daily care, had a cumulative impact that generated significant psychological stress.”
Additionally, the authors call for changing the narrative associated with Sanfilippo:
“The panel agreed that the perceived aggressive behavior of the child may be better described as ‘physical impulsiveness’ and is often misunderstood by the general public. Importantly, the lack of intentionality of the child’s behavior is recognized and shared by parents and panel members.
Parents may seek to protect their child from public scrutiny and avoid situations that many engender criticism of their parenting skills.”
Read the complete article from the Orphanet Journal on Rare Diseases.
Helping the research, clinical, and regulatory communities understand the perspectives of caregivers for Sanfilippo children is a priority for Cure Sanfilippo. The fastest path to a cure is when researchers, clinicians, regulators, and patient advocates collaborate and align. Another way to the Foundation is working to amplify the caregiver voice and project it into the industry space is with its Caregiver Preference Study. Learn more about this initiative.
Speeding Diagnosis of Rare Diseases By Empowering Pediatricians
Speeding Diagnosis of Rare Diseases By Empowering Pediatricians
First-Ever Collaboration: Pilot Program Giving Pediatricians Direct Access to Geneticists so Rare Diseases Are Diagnosed Accurately and Early
Families need faster, accurate diagnosis so they can access clinical trial opportunities as soon as possible. A key to this happening is bridging the gap in pediatricians’ access to genetics information, especially regarding rare diseases. To help bridge this gap, Cure Sanfilippo Foundation has partnered to pilot the Genetics Access in Primary Pediatrics (GAAP) project, linking Greenwood Genetic Center’s (GCC) clinical geneticists and genetic counselors to pediatricians through the Faces2Genes app.
Face2Gene analyzes patient photographs using machine learning and computer algorithms to help make challenging diagnoses. Through the GAPP pilot project, the Face2Gene improves patient wait times and allows a pediatrician to identify patients through a list of genetic “triggers” or features that may indicate a need for further genetic evaluation.
If the patient’s family elects to be a part of the GAPP pilot project, the pediatrician uploads facial photos and other clinical information to Face2Gene where it can be securely shared with GGC clinicians for review. The geneticist can suggest appropriate referrals or genetic testing that can be initiated by the pediatrician in advance of the genetics appointment. Urgent referrals can be prioritized, and when the patient does come in for their genetics consultation, initial test results have already been completed, saving valuable time.
Learn more about the Faces2Gene project and Foundation’s collaboration.
Creation of Global Clinical Guidelines for Sanfilippo Syndrome
Creation of Global Clinical Guidelines for Sanfilippo Syndrome
Cure Sanfilippo Foundation is leading the development the first-ever Global Clinical Guidelines for the management of Sanfilippo Syndrome in partnership with the Sanfilippo Children’s Foundation (Australia).
Best-practice guidelines for clinical care are critical for both patients and health care professionals in the management of rare diseases where lack of experience and knowledge about a condition often causes late diagnosis and less than optimal management of the condition. Such guidelines allow clinicians and other health-care professionals to make recommendations based on best-available evidence; improve consistency of diagnosis and clinical management across treatment centers; and enable affected families to make informed decisions regarding care and treatment.
As several promising treatments move into clinical trial, the need for Global Clinical Guidelines has become increasingly important. The international steering committee for this project includes: Dr. Simon Jones, UK (Chair); Dr. Joseph Muenzer, US; Dr. Chester Whitley, US; Dr. Nicole Muschol, Germany; Dr. Nicholas Smith, Australia; and Dr. Roberto Guigliani, Brazil.
Experts worldwide from all of the disciplines of health professionals involved in the care of children and young adults with Sanfilippo will be invited to contribute content to the clinical management guidelines.
These guidelines will be collated and validated by a wider pool of clinicians and the finalized Global Clinical Guidelines published in a peer-reviewed medical journal towards the end of 2019. Production of a family-friendly version of the guidelines is also planned.
This project is supported by a grant from Global Genes and BioMarin Pharmaceutical.
Below: The team aggregated by the Foundation to lead the project.
Update: Read the April 2019 Foundation Update for the latest on the project.
We’re working to cure Sanfilippo Syndrome
When our daughter Eliza was diagnosed with Sanfilippo Syndrome at the age of four, we decided we had to do everything possible to find a cure. It was the motivation that any parent can relate to as you will “got to the ends of the earth” for your child. So, we created Cure Sanfilippo Foundation in order to pursue every avenue to change the fate for every Sanfilippo child, not just our daughter. TIME is not on these children’s side, so the URGENCY is paramount. Cure Sanfilippo Foundation has come to represent a collection of Sanfilippo families (more than 65 now) and friends/supporters from across the country fighting to save our children under a single umbrella. There’s HOPE for a cure, and that HOPE comes from the ACTION that is being taken from supporters like you, to further this mission to save children, and cure Sanfilippo.
– Glenn and Cara O’Neill, parents of Eliza
Our mission is simple:
To advocate for and fund research directed towards a cure and treatment options for patients with Sanfilippo Syndrome.
Cure Sanfilippo Foundation is a 501(C)(3) not-for-profit organization.
All net funding goes to the urgent mission to advance treatment options to treat children with Sanfilippo. Our volunteers are in the hundreds who support the Foundation, our events, and our campaigns. This is led by proactive families of children with Sanfilippo Syndrome, and their supporters, who work tirelessly to change the fate and future for children. Donations are tax-deductible.
Please contact us:
Whether you are the family of a child with Sanfilippo, a researcher looking for funding, or simply someone who wants to get involved and help raise awareness, we would love to hear from you.
Phone: 803-413-0525
Email: curesff@gmail.com
Mail: PO Box 6901, Columbia, SC 29260
Learn More About What We Do:
- We Raise Money & Fund Research
- We Drive Collaboration
- We Increase Awareness
- We Support and Unite Sanfilippo Families
- Who Leads the Foundation
We Raise Money & Fund Research
See the grants awarded thus far at Research & Grants. Our efforts are global and far reaching as our goal is to end a disease. When the disease first starts showing around age 3, we parents are just beginning to see our child’s personality and potential….and then it is all taken away. Today, nothing exists to stop this, but real HOPE is on the horizon. Breakthrough science has discovered treatments and a hopeful cure which have proven in research models to slow or stop Sanfilippo. We fund this most promising research to bring about more clinical trial options…a life line for these kids. But we need your help in raising these funds.
Each year, we set huge fundraising goals
Many might wonder, “Why so much?” Our Foundation has a vision of not just funding research for a cure for every kind of Sanfilippo as it becomes available, but instead being so influential that we’re dictating the pace of research. This means that as promising ideas and research emerge, we’re able to make lab capacity, fund facilities that quickly take ideas forward to clinical trials.
How are those funds spent?
Every single dollar matters, and adds up toward this effort and all net dollars go toward this urgent mission. That might be drug production for children to be treated, clinical trial resources, breaking research in enzyme replacement, stem cells, chaperone therapies, or tackling the antibody suppression issue in gene Therapy. Time is not on the children’s side, but HOPE is. Your compassion is making the difference. You have our deepest thanks for your support for this life saving mission.
We fund a variety of projects
We believe, based on research and expert opinion, that it will take a mix of complementary and/or supplementary treatments to truly come to a functional “cure” for Sanfilippo Syndrome. This may be several different treatments over their lifetime. That is the reason we fund the most promising science in a variety of research areas, and the details of this research funded can be found at link here: www.CureSFF.org/grants.
Apply for foundation funding
If you’re a clinical researcher and are interested in funding from the Cure Sanfilippo Foundation, please email us and we can begin a conversation.
We Drive Collaboration
When you receive the diagnosis of Sanfilippo, you immediately want answers. What does this mean? Where’s the research? Who can I talk to? Contact us directly at curesff@gmail.com.
We’re a community, here to share information, the latest research, how to fundraise and spread awareness.
- Many Sanfilippo families working together with our Foundation to raise awareness and significant funding toward our $2 million goal in 2016.
- Grassroots Family-run Fundraising efforts: golf outings, auction parties, fishing and dodgeball tournament, 60+ national coordinated yard/garage sales on one day, etc…
- Cure Sanfilippo Foundation holds regular calls for Sanfilippo families to share information, discuss progress on research & clinical trials, gather community feedback, and collaborate on ideas.
To see how individual families are raising awareness through social media, visit Meet the Families.
We keep families connected to research and fundraising.
We coordinate regular “Family Conference Calls” (typically every quarter) where we share the latest information, largely the progress of research and clinical trials, as well as current fundraising and awareness strategies and support.
We drive a network of sharing.
We coordinate quarterly “Foundation Conference Calls” with Foundations around the world. We’re constantly leading the charge in pursuit of the research and moving it toward clinical trials. Information is empowering, so we’re always looking for ways to share everything.
PRESSING FOR shared research findings.
The research we fund: We do our best to hold the researchers to standards of sharing their findings so others may build upon it, enabling a cure faster.
Encouraging Families to join the global Registry
The reality is that the more our patient population can be represented fully in a registry, the more interest there will be from industry to pursue and develop treatments. That’s why we fully inform our families about the existence of the Global MPS/ML Registry called Connect MPS. If you are a new family or existing family with a child with Sanfilippo Syndrome, please register by clicking on the image below, or going to www.ConnectMPS.org.
We Increase Awareness
The compassion of people has amazed us. In five years, more than $5.5 million has been raised by the Foundation. All of it coming from individuals who heard the stories of Sanfilippo families and made the selfless choice to help our kids have a chance at life. More than 40,000 strangers have stepped up in just five years to support the Cure Sanfilippo Foundation, and it’s all because of the awareness raised by Sanfilippo families.
While a rare disease, we refuse for that to mean the diseases stealing our children’s future is ignored. We work constantly, telling our story (for one Sanfilippo family’s story is the reality for all of us).
We Support and Unite Families
We pool our resources. Together, we can accomplish amazing things. We welcome all Sanfilippo families to join our Foundation’s fight to cure this disease. We are open to you if you’re interested in more information about Sanfilippo, more details about where the most promising research stands, best practices we’ve experienced, to participate in fundraisers, or even formally roll up under our Foundation. Just contact us and join the family.
We’ve also partnered with a support site for siblings of terminally-ill children. The siblings have a unique journey of their own, and often have to make significant sacrifices along the way. 
One sibling, Grey Chapin, decided to create a website where siblings of terminally-ill kids have a way to connect and tell their story. Grey knows all about the sibling life. Her beautiful sister Blair passed away in 2017 from Sanfilippo Syndrome. Visit The Blair Connection for a place where siblings can connect with one another and find additional support as they experience the challenges of having a terminally-ill brother or sister.
Who Leads and RUNS the Foundation?
STAFF
- Glenn O’Neill, President
- Katie Walton, VP of Marketing
- Cara O’Neill, Chief Science Officer (half-time)
- Lindsey Shealy, Development Associate
Scientific and Physician Advisors
- Tim Wood, PhD
- Jeffrey D. Esko, PhD
- Jan Nolta, PhD
- Gustavo Maegawa, MD, PhD, FABMG
- Leah R. Reznikov, PhD
Debbie Greenhouse, MD FAAP – Physician Advisor
Elise Drake-Esposito, PhD – Research Projects Coordinator
BOARD OF DIRECTORS
- Daniel Fraley, CPA – Board Chair / Treasurer
- Shelby Leonardi, JD – Secretary
- Faith McAngus
- Valerie Byers, PhD
- Rachael Best
- Benjamin Von Wong
Adam Shaywitz, MD, PhD
KEY VOLUNTEERS
Cure Sanfilippo Foundation is powered by families. Its success is because of more than 65 Sanfilippo partner-families, who choose to fundraise and advocate under the Foundation’s mission and umbrella to help end this disease. Ultimately, it’s up to us and the hundreds more supporting the same mission around the country and world to drive and fund the research for treatments and a cure.- Get to know our partner families that power the Foundation.
