Rylee's Road
Hello everyone, we’re Kris and Grant, the very proud parents of our beautiful daughter, Rylee. Rylee lives with an ultra-rare neurodevelopmental genetic disorder, FBXO11. This condition affects how her brain develops, making it harder for children to learn, communicate, move, and reach developmental milestones. With FBXO11 being so rare, there is very little information about what the future holds or what milestones she may or may not achieve. When she was diagnosed, there were only 84 known cases worldwide. Rylee has faced more challenges in her short life than most people experience in a lifetime, she continues to greet the world with the brightest, most heartwarming smile. Her resilience inspires us every single day.
Finally bringing her home was an incredible relief, but the challenges didn’t stop there. Despite around-the-clock care, Rylee struggled to gain weight. At five months old she was still failure to thrive, was admitted back to the hospital, and underwent surgery to have a G-tube placed. Today she relies on her feeding tube for hydration and nutrition.
When we first learned about her diagnosis, we held onto hope that because so little was known about FBXO11, perhaps the predicted challenges wouldn’t all become reality. Unfortunately, the opposite has happened. Rather than catching up, Rylee has fallen further behind developmentally and has even lost some abilities she once had. She was born with a strong ability to feed orally but has since become almost completely dependent on her feeding tube. Despite working hard in multiple therapies regularly, she is delayed in every developmental milestone—except for one. Her smile.
It is impossible to put into words the joy that smile brings to everyone who meets her. Every week, Rylee works incredibly hard through physiotherapy, occupational therapy, and speech therapy to build strength, coordination, and communication skills. No one can tell us what her future will look like, but she never stops trying. Watching her determination has taught us more about courage than we ever thought possible. As her parents, we believe it’s our turn to fight just as hard for her. We have already committed a significant amount of our own resources to begin researching and confirming the possibility of developing a safe gene therapy for FBXO11. While this process is complex, lengthy, and incredibly expensive, it represents the greatest hope we have of improving Rylee’s quality of life. After finally emerging from survival mode, we’ve spent countless hours researching, speaking with specialists, scientists, and medical professionals to understand what might be possible.
The first five years of life are crucial for brain development so time is crucial to give her the best chance for the most impactful change. We will love and care for Rylee for the rest of our lives without hesitation. But like every parent of a child with complex medical needs and special needs, we carry a heavy fear that is impossible to ignore: what happens when we’re no longer here? Our greatest dream isn’t perfection. It’s that one day Rylee will be able to communicate her needs, understand the world around her, make her own choices, and stand up for herself. We want her to have every opportunity to live with as much independence, dignity, and joy as possible.Every parent would move mountains for their child. This is ours.
Every contribution to Rylee’s Road directly fuels the pursuit of this life-changing science. We believe that through collective action and compassion, we can pave a way toward a brighter, healthier future for Rylee. Thank you for being a vital part of this healing journey and for standing with us as we travel toward a cure.
Rylee entered the world with a bang. We had one beautiful day at home before everything changed. What we thought would be a simple overnight hospital stay for jaundice quickly became a nightmare. Rylee repeatedly stopped breathing, and doctors had to perform life-saving resuscitations. We came terrifyingly close to losing her four times. We are forever grateful that she was already in the hospital when those emergencies happened. Those breathing difficulities have lead to Rylee requiring oxygen every time she sleeps. We spent the next six weeks in the hospital while doctors performed countless tests in search of answers.
Why Gene Therapy for Rylee?
Rylee’s condition is so rare there is very little information about it globally. There’s no treatment or cure. After meeting with medical professionals and research specialists this option has been identified as the only way to help Rylee and improve her expectancy and quality of life.
Why we’re asking for help?
Gene Therapy has advanced greatly in recent years and is a great tool in correcting gene issues, saving lives and improving devastating life prognosis for people affected. In the medical field there isn’t funding or resources available to research rare diseases/conditions such as Rylee’s. To safely research, test and create a Gene Therapy is incredibly expensive. Quotes we’ve received are 2-4.5 million dollars which is a substantial amount of money. Unfortunately we haven’t won the lottery and this work isn’t able to be done on a lifelong payment plan. So we’re hoping we can raise awareness and support for her to create and receive this treatment. Which will also open the door for the other families and kids that are affected with this disease in the process.
Fiscal Breakdown of Work to be Done
Approximations provided by medical institutions and scientific labs:
- Proof of Concept: 500-600 thousand
- Toxicology: 1 million
- Regulatory Filing: 250 thousand
- Manufacturing Clinical Grade: 2-3 million
- Treatment Hospital Administration cost: 250 thousand