A Better Future for Emilia

Emilia experiences significant neurological and developmental challenges as a result of her condition. Despite these challenges, she continues to participate in therapy programs and receives ongoing care from a multidisciplinary medical team.

Her current limitations include:

• Inability to sit independently
• Inability to stand or walk independently
• Absence of functional speech
• Severe global developmental delay
• Ongoing neurological impairment
• Need for full-time assistance with daily activities
• History of epilepsy and seizure activity
• Continuous need for medical supervision and supportive therapies

Emilia is followed by specialists in neurology, genetics, rehabilitation medicine, orthopedics, and other related fields.

Her current care includes:

• Neurological monitoring
• EEG evaluations
• Anti-seizure medications
• Physical therapy
• Rehabilitation services
• Orthopedic management
• Adaptive equipment and supportive care

These interventions help manage symptoms and improve quality of life but do not address the genetic cause of the disease. Hope for Emilia Fundraising is supporting efforts to develop a personalized gene therapy program designed specifically for Emilia's genetic condition. The goal of this approach is to deliver a functional copy of the QARS1 gene to affected cells and address the underlying cause of the disease rather than only managing symptoms.

The development process includes:

• Scientific design and development
• Laboratory research and validation
• Preclinical safety studies
• Manufacturing of therapeutic materials
• Regulatory and scientific milestones

This project represents the most promising opportunity currently available to target the root cause of Emilia's condition. As major milestones are achieved, updates will be shared with supporters through the Hope for Emilia platform.