A child’s family campaigns to raise awareness and give her the hope she deserves

Rylee at 11 months old at a check up at McMaster hospital. (Contributed Photo)

Robin Krafft, Post Correspondent

Nurse Practitioner Jessica Carrasco-Harding has been serving the Tillsonburg community over the past year, but she's reaching out now on behalf of her niece, Rylee.

"My young niece has been diagnosed with an ultra-rare genetic disorder," Carrasco-Harding said. "A potentially life-changing gene therapy exists, but the treatment comes with an estimated cost of $2 million, an unimaginable burden for any family."

Rylee was diagnosed with FBX011-related neurodevelopmental disorder, a condition for which there is currently no treatment or cure. The rare condition was first recognized as a diagnosis of its own in 2018.

"There is no genetic link," Carrasco-Harding said. "It's not passed down and there is no genetic marker that could show up during pregnancy. It happens spontaneously at conception during the arrangement of the DNA, and it’s the first in our family."

There's a wide variation in how the disorder presents and the prognosis is unknown. Kris Dowling and Grant Harding, Rylee's parents, belong to a worldwide parent support group and have an extensive medical team.

"My niece and her family are receiving care through the Southwestern Ontario Rare Disease Program at Children's Hospital, London Health Sciences Centre," Carrasco-Harding said. "While they have an exceptional medical team supporting them, our family is now focused on raising awareness and fundraising to help give her access to this groundbreaking treatment."

"Personalized gene therapy would treat the issue rather than the symptoms," Dowling said. "It would involve repairing or editing the gene that isn't functioning properly. The earlier the better, for a higher quality of life."

Rylee has been a happy baby, despite all of the tests and medical interventions that have been necessary from day one, but it's been a frightening and stressful experience for the family.

"She needs oxygen when she's sleeping because she could stop breathing," Dowling said. "She needs a feeding tube for hydration and nutrition. She has physio, occupational and speech therapy sessions. Her milestones are delayed, but it's slow progress, not no progress. We've been working and we will keep working."

“Our family has experienced fear, grief, uncertainty, and hope all at the same time,” Carrasco-Harding said. “Through it all, we’ve watched my niece’s parents become incredible advocates for their daughter. Their strength has been inspiring. Our entire family has rallied around them with one shared goal: to give her every possible opportunity to access the life-changing gene therapy that could alter the course of her future.”

The family has partnered with McGill University and The Neuro in Montreal, and they've already started building her cell line.

"If we go through all of this, all of those steps will be done and it will open the door for other families," Dowling said. "The pathway will be proven, and those families may only need to pay a few hundred thousand dollars. Usually there are grants and funding for common diseases but this is exceptionally rare."

Carrasco-Harding has observed the compassion and generosity of Tillsonburg residents, saying that kindness drives this community.

"Throughout my career, I've met people on some of the hardest days of their lives," she said. "I've witnessed families facing unimaginable loss, fear, and uncertainty. I've seen neighbors rally together during difficult times. I've watched people check in on elderly neighbors, stop to help a stranger cross the street, organize fundraisers for families facing illness, and quietly give to those in need without ever expecting recognition. Those are the moments that stay with you."

As a nurse practitioner and healthcare provider, she has spent hours digging into the medical literature and research. While she understands the science behind the diagnosis, and the possibility of groundbreaking therapy, she also understands the repercussions if that treatment is unavailable.

"It's the world's slowest heartbreak, one that you carry with you every single day," Carrasco-Harding said. "You know what's at stake, yet there are moments when love leaves you feeling powerless."

The funds raised through the family's website (ryleesroad.ca) will all be directed to research institutions that have invested in accepting her as a patient.

"Every person who shares her story, donates, or simply helps raise awareness gives our family something priceless: hope," Carrasco-Harding said. "We're incredibly grateful that more people are learning about her journey and the importance of access to gene therapy."

"There is support, just not funding," Dowling said. "Someone has to start somewhere. You could never prepare for this. We're in disbelief, but she's amazing at the same time. You just want to do everything you can to help her."