Naomi and Jack are the light of our lives.

We’re Evan and Rebekah and this is our story.

Naomi was born in July 2021 and immediately became the center of our universe. Her big blue eyes and beaming smile made challenges with breastfeeding and hip dysplasia seem miniscule. We noticed her struggling to meet developmental milestones as early as two months old, but her pediatricians shrugged us off and chalked the concerns up to the worries of first-time parents. By six months old Naomi was far behind her peers developmentally, and she started physical therapy to help her catch up. Progress came slowly but surely. However, in December 2022 her therapists recommended additional testing to pinpoint what was causing her delays.

On May 12, 2023, exactly four weeks before her brother was set to be born, the world fell out beneath our feet: Naomi was diagnosed with SPG50. It was caused by inheriting two mutated copies of the AP4M1 gene – one corrupted copy from each parent. And that meant that Jack had a 25% chance of being affected too.

Jack was born in June 2023 and we sent off his genetic test kit two days later. For weeks we agonized over every movement he made – did he have it, or would he be the lucky one to escape the condition? In early July Jack landed in the hospital after aspirating formula. As we sat in the room watching him struggle to breath on his own, his genetic test came back: positive.

In December 2023 Jack became the youngest child to ever receive an intrathecal gene therapy treatment. Since then he has thrived and is making steady progress towards developmental milestones. The treatment has positively and immensely impacted his life. We hope and pray that Naomi will also be selected to participate in this potentially life-changing gene therapy treatment and hope you can help us in raising funds.