Hope for Emilia
Donate

About Emilia

On the third day after she was born, Emilia began having seizures and was admitted to intensive care. After years of medical evaluations, genetic testing, and searching for answers, her family finally received a diagnosis: QARS1-related developmental and epileptic encephalopathy. Today, Emilia cannot sit, walk, or speak independently. She requires full-time care, ongoing therapies, medical supervision, and constant support.

Medical Information

Emilia's diagnosis, her day-to-day condition, and the treatment path her medical team and Hope for Emilia Fundraising are pursuing.

Emilia has QARS1-related developmental and epileptic encephalopathy (DEE), an ultra-rare genetic neurological disorder caused by mutations in the QARS1 gene. QARS1 is essential for normal brain development and function. Mutations in this gene can lead to severe neurological impairment, epilepsy, developmental delays, and lifelong disabilities. Because QARS1-related disorders are extremely rare, there are currently no approved treatments that address the underlying cause of the disease.

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.

Process

Why Fundraising is Needed

Hope for Emilia Fundraising was created to support the development of a personalized gene therapy program for Emilia’s QARS1-related developmental and epileptic encephalopathy. Unlike traditional treatments that only manage symptoms, this project aims to address the underlying genetic cause of her disease. The estimated cost of developing a personalized gene therapy program is approximately $3,000,000.

  1. Research and Program Design
    Step 1

    Research and Program Design

    • Scientific planning and development
    • Gene construct design
    • Expert consultation and project coordination
  2. Laboratory Studies
    Step 2

    Laboratory Studies

    • In vitro testing and validation
    • Proof-of-concept studies
    • Evaluation of therapeutic potential
  3. Vector Development and Manufacturing
    Step 3

    Vector Development and Manufacturing

    • Development of gene delivery systems
    • Manufacturing of research-grade materials
    • Quality control and testing
  4. Preclinical Studies
    Step 4

    Preclinical Studies

    • Safety assessments
    • Biodistribution studies
    • Toxicology testing
    • Regulatory preparation
  5. Medical and Project Support
    Step 5

    Medical and Project Support

    • Medical consultations
    • Specialized evaluations
    • Travel related to project development when necessary
    • Scientific and operational coordination
  6. Ongoing Care for Emilia
    Step 6

    Ongoing Care for Emilia

    • Rehabilitation services
    • Physical therapy
    • Supportive medical care
    • Adaptive equipment and developmental support

Ways to Help

There are many ways to support Hope for Emilia beyond making a donation.

  • Share Emilia’s Story

    Help us reach more people by sharing our website, social media posts, and fundraising campaign.

  • Introduce Potential Partners

    If you know researchers, foundations, companies, philanthropists, or organizations that may be interested in supporting rare disease research, we would love to connect.

  • Corporate and Community Fundraising

    Businesses, schools, churches, and community groups can help organize awareness and fundraising initiatives.

  • Media and Awareness Support

    Journalists, content creators, influencers, and advocates can help spread awareness about QARS1 and Emilia’s journey.

  • Professional Expertise

    We welcome support from professionals in science, medicine, fundraising, nonprofit development, communications, legal services, and technology.

  • Contact Us

    If you would like to help in any way, please reach out. Every connection, introduction, and act of support can make a meaningful difference. Even if you cannot donate, sharing Emilia’s story may help it reach the person who changes everything.

A Message from Emilia’s Mom

My name is Alina, and I am Emilia’s mom. For more than five years, our family has lived a life we never imagined. Every day brings challenges, therapies, appointments, and uncertainty. Yet every day also brings something stronger: hope.

Emilia has taught us what courage truly looks like. Despite everything she faces, she continues to smile, fight, and inspire everyone around her. Today, for the first time, we have a chance to pursue something that could address the cause of her disease rather than only its symptoms.

We know this journey is difficult, and we know we cannot do it alone. Thank you for taking the time to learn about Emilia. Thank you for every donation, every share, every message of support, and every prayer.

Your kindness gives our daughter a chance that would not otherwise exist.

With gratitude, Alina Emilia’s Mom

  • Every day requires therapy, medical care, and support

  • Her courage helps her family keep moving forward

  • Her courage helps her family keep moving forward

  • Her smile gives her family strength and hope every day

  • Every donation and introduction can support Emilia's journey

Together We CanGive Emilia Hope

Every photograph tells a story of daily care, resilience, and love. Community support helps that story move forward and opens new possibilities for Emilia.

Get in touch

Contact Information

For questions, partnerships, media inquiries, fundraising opportunities, or general support, please contact us: