For more than two decades, our collective mission as a global research powerhouse has been to bring hope, healing, and ultimately a cure to every person living with cystinosis. And today, another brave family stepped up to help make this mission possible for us all.
The second pediatric patient has officially received the stem cell and gene therapy treatment at UC San Diego, marking a historic milestone not only for our foundation, but for the entire scientific community. Since the Cystinosis Research Foundation began funding the groundbreaking work of Dr. Stéphanie Cherqui in 2007, we have been dreaming, hoping, and eagerly waiting for this moment to come. Because of Dr. Cherqui’s steadfast commitment to this research, the extraordinary courage of the trial participants, and the relentless support of our generous donors, our wish for a cure is no longer just a dream, but a possibility that is finally within our reach.
As an organization rooted in Natalie Stack’s wish for a cure, we are honored to be able to share yet another promising landmark in our journey to create a world without cystinosis. We are profoundly grateful to the family of the second pediatric patient to undergo treatment. This milestone would not be possible without their courage and partnership in advancing this life-saving research. Their statement below offers a firsthand look at their experience as participants in this historic research effort.
Please join us in sending love and strength to this family as they support their child through the remainder of this treatment and embark on their path toward a cure. Together, we are united in hope for a positive and life-changing outcome.
“A true day of hope ❤︎
Our sweet, spunky three-year-old daughter went through a screening process in San Diego in May to become patient number two in the DFT383 clinical trial. In July, she underwent two days of stem cell collection, and her cells were sent to a lab to be genetically modified to address cystinosis.
Last week she received chemotherapy and today, she received 160 million of her own modified cells back into her body. Now, we wait for them to take hold and begin their work.
The road ahead will be hard. As chemotherapy does its job and her blood counts drop, her body will face hardships but, God willing, will change her life forever. We believe in the potential of this treatment, and we are holding so much hope for what it could mean for her future, and the future for everyone affected by cystinosis.
We have felt God’s presence throughout this entire journey. There have been many signs along the way, and so many moments that have left us feeling like we were being led exactly where we needed to be for her and for our entire community. Even in the hardest moments thus far, we have felt a reassurance that this was the path we were meant to take. It has just felt right. We don’t know what the road ahead holds for certain, but the future is promising and we trust God’s healing-hands. We are holding onto that faith more tightly than ever.
Today is a day of hope. Hope for our sweet girl and hope for the entire cystinosis community.
As her parents, we know this opportunity is about so much more than our daughter. We hope her journey helps continue to pave the way for more individuals affected by cystinosis to have access to treatments like this.
We know this moment would not have been possible without the work of so many. We carry immense gratitude for every cystinosis warrior, every family, researcher, and advocate who has helped bring us to this moment. Every step forward has been built on the courage, determination, and love of those who came before us.
And it’s all because of the wish an 11-year-old girl made: for her disease to go away forever.
Today, we are one step closer to that wish becoming a reality for our daughter and for every person living with cystinosis.
For every cystinosis warrior. For a future without cystinosis. ❤︎”
Sincerely,
The Family of the Second Pediatric Patient