A Cure Changes Everything

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

Cure 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.

Cure 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.