One Family’s SANFILIPPO Story…

…but the reality for every family living with Sanfilippo Syndrome. Watch this video to learn why we exist, and why we need your help.

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Watch the video about one family's fight to cure Sanfilippo Syndrome

Meet Our Sanfilippo Kids and Their Families

Cure Sanfilippo is powered by families. Our success is for and because of them. Hear their stories and you’ll understand why we fight so hard to do what we do.

Our Fundraising Goal

Our goal is to raise $2,000,000 in 2020. But we need your help to get there.

Learn Why We Raise Money
$115,000 raised
Fundraising goal for fight to cure Sanfilippo Syndrome
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Progressing research to cure Sanfilippo Syndrome

Curing Sanfilippo Syndrome is our ultimate goal, but we also want to influence the road to get there. With a 360-degree view, the Foundation funds extensive research into multiple avenues for a treatment/cure, as well as spearheads, supports, and funds initiatives that provide valuable, disease-specific and patient-preference information.

See What We’re Funding

Our Mission

To advocate for and fund research directed towards a cure and treatment options for patients with Sanfilippo Syndrome.

Learn More About What We Do

What’s Happening

Wells Warriors Wrestling Team, honoring Spencer, headed to state finals

Wells Warriors Wrestling Team, honoring Spencer, headed to state finals

More than 20 years agoCoach Lewia coached Spencer’s Dad, Nate, in wrestling. Today, Coach Lewia coaches the Wells High School Warriors Wrestling Team. And he was ready to do whatever he could.

Coach Lewia told his team of wrestlers about Nate, and that his son, Spencer, had been diagnosed with a rare and fatal genetic disease called Sanfilippo Syndrome, otherwise known as the Childhood Alzheimer’s. There is no treatment or cure YET.



Coach Lewia explained to his team that Spencer’s only chance at life was to raise money to fund the desperately-needed research and clinical trials to find a treatment or cure. And every wrestler was on board to raise as much money as he could. 

The team saw the urgency and how much it meant to their coach, to help Nate’s family and Spencer. Without any hesitation, the high school students joined the race to save Spencer’s life.

AND THE WARRIORS AREN’T SLOWING DOWN

For a third year, the Wells Warriors wrestling team is dedicating its season to helping raise funds for research to cure Sanfilippo Syndrome. To give kids like Spencer back their future. 

Wells Warriors win Class B regional Championship 2020

This past weekend, the Wells Warriors competed in the Regional Finals and won the Class B Regional Championship for the fourth time. Keeping Spencer front of mind as they have all season, the Wells Warriors head to the State Finals.

Support the inspirational commitment of Coach Lewia and the Wells Wrestling team to help Spencer. Make a donation to their fundraising campaign.

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A little sweetness for your Valentine’s Day

A little sweetness for your Valentine’s Day

Happy Valentine’s Day!

Here are some favorite family recipes from several of our partner families as a symbol of our gratitude for you. Enjoy one (or more) of these and think of the warm wishes we’re sending your way.

Byers’ Family Cutout Cookies

3 cups flour
1/2 tsp baking powder
1/8 tsp salt
1 cup butter
1/2 cup sugar
1 egg
2 tsp vanilla

Icing:
1 cup powdered sugar, sifted
1/4 tsp vanilla
Milk (about 1-1/2 tbsp)

Sift together flour, baking powder in salt in a medium bowl. In a large bowl, cream together butter, sugar, egg, and vanilla. Add dry ingredients gradually to wet ingredients. Mix until everything sticks together and bowl comes away clean.

Roll out dough onto a floured surface to 1/8-inch thick and cut out. Place cutouts on ungreased baking sheet.

Bake at 350°F for 8 to 10 minutes. Check often to avoid burning.

To make icing, stir together powdered sugar, vanilla, and enough milk to make a drizzling consistency. Decorate cookies with frosting once they cool.

Super Simon’s Favorite Peanut Butter (Breakfast & Snack) Bars

Super Simon’s Favorite Peanut Butter (Breakfast & Snack) BarsIngredients:
1 1⁄2 cups quick-cooking oats
1⁄2 cup raw almonds (or walnuts)
1⁄4 cup sesame seeds
3 tablespoons chia seeds
1⁄4 cup hemp seeds
1 teaspoon ground cinnamon
1⁄2 teaspoon salt*
1 cup unsweetened, unsalted, creamy peanut butter
1⁄2 cup maple syrup, Grade A
1 teaspoon vanilla extract

  1. Line a 9-by-9-inch square pan with parchment paper with enough over-hang to cover bars completely.
  2. Grind oats in food processor or power blender for a few seconds until oats resemble course powder.
  3. In a large mixing bowl, add ground oats.
  4. Grind almonds (or walnuts) in food processor or power blender for a few seconds until nuts resemble course powder. Add ground nuts to large mixing bowl.
  5. Combine seeds, cinnamon, and salt with oats and nuts.
  6. In a separate smaller bowl, whisk together peanut butter, maple syrup, and vanilla extract until very smooth.
  7. Pour liquid mixture over dry ingredients and, using a wooden spoon, stir until evenly combined.
  8. Transfer the mixture to the prepared pan.
  9. Using the back of a wooden spoon or offset spatula, firmly press the mixture evenly into the pan.
  10. Cover by folding in the two shortest ends of the paper over the mixture, and then the two longest ends.
  11. Refrigerate for at least one hour or overnight.
  12. Gently open the paper and slice into 16 square bars by making three evenly spaced slices in one direction, and then three evenly spaced slices in the opposite direction.
  13. Enjoy immediately with your favorite beverage, or recover with paper and replace in the refrigerator for later. Bars may be placed in a glass storage container in the freezer for longer term storage.

        Cooking Note: *If using salted peanut butter, use only 1⁄4 teaspoon salt.

        Special Note: Super Simon loves his bar sliced into 16 tiny squares and then each gently rolled into balls, so he may easily pop them in his mouth one by one.

        Recipe adapted from: Super-Seedy Granola Bars developed by Alexandra Caspero, MA, RD

        Sarkar’s Apple Dip

        8 oz cream cheese
        1 bag Skor pieces
        1 container carmel fruit dip
        3 tbsp brown sugar
        5 Granny Smith apples

        Mix cream cheese and brown sugar together until smooth. Take mixture and put on serving tray, leaving a few inches around the edge. Melt caramel dip and spread over cream cheese mixture. Add Skor pieces as layer on top of caramel. Surround dip with applies and serve.

        Want to share yours?

        If you would like to submit a favorite recipe from your family for future sharing, please e-mail Katie@CureSanfilippoFoundation.org. 

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        “Hope is love on a mission,” says Dr. O’Neill in acceptance speech

        “Hope is love on a mission,” says Dr. O’Neill in acceptance speech

        “There is no such thing as ‘false hope’. Hope Is LOVE ON A MISSION!”


        Cara O'Neill with 2020 Patient Advocate AwardCure Sanfilippo Foundation’s Chief Scientific Officer Cara O’Neill, MD, FAAP, made powerful remarks before the audience of patient advocates, scientists, and industry partners as she accepted the international Patient Advocate Leader award at the WORLD Symposium 2020 on Feb. 11. She spoke about the power of hope and declared that there is no such thing as “false hope.”

        In introducing O’Neill, a pediatrician who has worked in private practice and academic settings and mother of a daughter with Sanfilippo Syndrome, emcee Dr. Chet Whitley noted, “Her uniquely-paired career and life experience have allowed her to bridge gaps between scientists and clinicians, and even industry and families, helping foster patient-centered research and translational paths forward for rare diseases.”

        He went on to say, “Guided by the mission to support creation of treatments and eventual cure for the disease [Sanfilippo Syndrome], she has persisted and been a force in the field … Thank you for what you do, and don’t stop!”

        Taking the stage to accept the honor, O’Neill first thanked the community who together work in making advances for rare diseases and recognized the patients and their families that are the ultimate mission. 

        “It’s really, really such an honor to be recognized among so many amazing advocates that I continue to learn from every day,” said O’Neill. “And among the neuron of this entire conference: the children, the patients, and the parents in the room with very special children. For me, it’s my daughter Eliza.”

        She shared how the WORLD Symposium played a significant role in the Foundation’s founding.

        “The WORLD Symposium, this collection of brilliant scientists and clinicians will always be a part of our beginnings at Cure Sanfilippo Foundation. 

        “After our daughter Eliza was diagnosed with MPS III A about seven years ago, this was the first meeting my husband and I went to. We came to get immersed in science and meet the leaders in the field. And it was a critical first step.”

        The came away from the meeting with an important question.

        “And to be honest, at the time in 2014, we left the meeting feeling like, ‘Why are so few people talking about Sanfilippo’?”

        O’Neill and her husband, Glenn O’Neill, President of Cure Sanfilippo, used this realization to take action.

        “I’m not sure exactly what we expected at the time, but it lit a fire under us to get moving, to serve things up, to raise up the cause for Sanfilippo to anyone that would hear it. And through our Foundation efforts, many people were willing to hear it.”

        And their efforts had wider reaching impact than they ever could have predicted.

        “We never imagined Sanfilippo and our family would be featured on the Today Show, The Doctors TV show, People magazine, media stories around the world.

        “And as if ‘rare disease life’ isn’t bizarre enough, we got to share our wild Sanfilippo story on Inside Edition,” she shared with a chuckle.

        Their efforts and willingness to speak turned into action.

        “But with a lot of help, we were starting to see more and more people now talking about Sanfilippo. In that time, millions of dollars had been raised thanks to families just like us around the country, around the world. Critical dollars to fund Sanfilippo research leading to many meaningful collaborations and advances. All striving for an effective and ultimately approved treatment for all children.”

        The wave of action turned into results, into science that is testing possible therapies for Sanfilippo Syndrome right now.

        “Today, seven years since my first WORLD meeting, it’s a bit surreal to look back and see how much work has taken place in those years. There are now seven therapies for Sanfilippo Syndrome in clinical trials right now and much more science coming along the pipeline that really amazing. It’s remarkable to think that all these trials are happening.”

        Despite the years, O’Neill never forgets the initial feelings that drove her and Glenn to the conference.

        “But being here today, also takes me back to those early days, especially when I meet families like the Barrises and Grace Kerns; I meet those families who are here for the first time. It takes me back – maybe a little too much,” she said with emotion thick in her voice.

        “It takes me back to that utter panic and desperation to do whatever needs to be done to fill in the gaps, to create the right partnerships, and find a way forward to some sort of lifeline for these children. 

        Her work with the Foundation, scientific and clinical community, and industry are an outlet for those feelings. 

        “The past seven years have given me such privilege to work with so many like-minded advocates, Sanfilippo families, researchers, and industry partners who are all trying to move the needle forward. And that helps give me purpose in this tragedy.”

        She praised her family for the support and perspective that they provide her. 

        “I’m lucky also to have a true partner in this work and this ‘rare life,’ and this recognition is as much my husband Glenn’s as it is mine. And also my amazing children, Beckham and Eliza, who show me beautiful really is, despite the heartbreak this disease can bring.”

        Then she spoke powerfully of hope, sharing words that press people to never give up hope because it is what drives action. And, most importantly, that all hope is valuable.

        “My family and this community show every day that ‘hope’ is an action. It is being willing to work toward what might seem impossible. It’s about vision and perseverance.”

        “You see, there is no such thing as ‘false hope.’ Because hope is not conditional upon an outcome. Hope is actually just love on a mission!”

        She closed by again voicing her heartfelt thanks for the others in the room.

        “Thank you all for what you do and for this honor.”

        Her remarks received a standing ovation from the audience of patient advocates, scientist, and industry professionals.


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        Yahoo! Finance features Foundation’s Chief Science Officer

        Yahoo! Finance features Foundation’s Chief Science Officer

        Headshot of Dr. Cara O'NeillCure Sanfilippo Foundation’s Chief Science Officer Cara O’Neill, MD, FAAP, is at the WORLD Symposium 2020 in Orlando, FL, this week to make an important presentation about an innovative way to approach recording and measuring disease hallmarks post-gene therapy using video-based technology. 

        The PROVide Study uses video capture technology to monitor daily living, motor skills, and events, such as details regarding seizure frequency and length, sleep, stooling, and irritability/agitation. An additional layer of innovation in this study is the use of wearable devices to record additional data.

        Her presentation was included in a recent Yahoo! Finance article.

        Additionally, O’Neill is being awarded the Patient Advocate Leader of the Year at the WORLD Symposium. An honor that 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.

        To learn more about the PROVide Study, contact the Foundation at Contact@CureSanfilippoFoundation.org.

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        Cure Sanfilippo Foundation

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

        curesff@gmail.com

        P.O. Box 6901
        Columbia, SC 29260

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