Foundation Update – July 2019

When you make a donation, you make an investment in Cure Sanfilippo Foundation. We want to share how your investment continues to pave a new future for families with Sanfilippo children.

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. 

2019 Sale2Save 2019 Sale2Save 2019 Sale2Save

 

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

Henry and Blair, a devotion like you wouldn't believeIn 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.

Cara O'Neill speaking at 2019 National Institute of Health’s CNS Immunogenicity Meeting Glenn O'Neill speaking at 2019 Rare Innovation & Partnering Summit Katie Walton at 2019 BioMarin Patient Advocacy Forum

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. 

Cara O'Neill in front of U.S. Capitol Cara O'Neill meeting with U.S. Senator Tim Scott

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.

Hero Matthew
Matthew
Age 5 | Massachusetts
Read his family’s story



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

Cure Sanfilippo Foundation

501c3 non-profit
(Tax ID: 46-4322131)

curesff@gmail.com

P.O. Box 6901
Columbia, SC 29260

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