Only on News 19: Family's Journey with Rare Genetic Condition

A Family’s Journey with a Rare Genetic Disorder

As a parent, the desire to provide the best possible life for your child is natural. However, when unexpected challenges arise, it can be overwhelming. For a family in Madison, Alabama, this struggle has become a daily reality as they navigate life with their daughter, Emery, who lives with an extremely rare genetic disorder.

Emery was born with what is known as KIF1A-associated neurological disorder, a condition that affects her speech, cognitive abilities, motor skills, and vision. Her twin brother, Maddox, does not have the disorder, nor does her younger brother, making Emery’s condition a de novo mutation—meaning it occurred spontaneously and was not inherited from either parent. This rarity makes Emery one of only three people in Alabama with the disorder, and there are approximately 550 cases worldwide.

Valerie Morris, Emery’s mother, described the emotional impact of receiving the diagnosis. “Getting that diagnosis was devastating,” she said. “We were led to believe for a while that there was no diagnosis from multiple specialists, and then to get a diagnosis like this.” The initial uncertainty and fear left the family feeling lost, unsure of what the future held for their daughter.

Despite the challenges, Emery has shown incredible resilience. She is described as a social and friendly child who loves going to school and is currently enrolled in a local preschool. She even shares a classroom with her brother, Maddox. Valerie emphasized how much Emery works for every small achievement. “She never complains,” she said. “She goes to all of her therapy appointments and just tries so hard, and she just has the sweetest personality.”

For years, the family faced the reality of a life filled with medical appointments, therapies, and constant adjustments. But recently, they found a glimmer of hope through a groundbreaking treatment developed by a nonprofit organization based in California called ‘n-Lorem.’

The organization specializes in personalized medicine, creating treatments tailored specifically to a patient’s genetic makeup. Unlike traditional approaches that use a “one size fits all” method, ‘n-Lorem’ focuses on targeting the root cause of genetic disorders. Stan Crooke, the founder, explained the process: “Once we know the genetic cause and we know the sequence of where the problem is, we can create a genetic medicine that uses the genetic code as a zip code to target that specific problem.”

Emery’s case was taken on by ‘n-Lorem’ in March 2024, and the organization has already successfully treated 11 other KIF1A patients across the country. Some of these patients have even regained the ability to walk. Valerie expressed her gratitude for the work being done by the nonprofit. “It’s amazing,” she said. “I just can’t believe that there are people out there who wanted to even start this nonprofit. They’re doing such special and life-changing work for all these families.”

While the results of the treatment are not guaranteed, the family remains hopeful. Emery’s condition has not regressed, and the medication is currently being crafted by ‘n-Lorem.’ The family hopes it will be ready for her to try early next year.

For now, they continue to celebrate every small milestone Emery achieves. “She deserves every single little inch and tiny milestone that she reaches, and we just celebrate it big time,” Valerie said.

This journey highlights the power of perseverance, love, and innovation in the face of adversity. It also underscores the importance of organizations like ‘n-Lorem’ in providing hope and new possibilities for families dealing with rare genetic conditions. As the family looks toward the future, they remain committed to supporting Emery and embracing each day with optimism and determination.