Support Eli Our Warrior, Help Us to Conquer AGS
Dear Friends and Supporters,
I would like to introduce to you our son Eli, at 4 years old, he radiates joy and determination, lighting up our world. Eli was diagnosed at 1.5 years old with Aicardi Goutières Syndrome (AGS). AGS is a rare and severe genetic disorder that primarily affects the brain, spinal cord, and immune system, leading to developmental regression and neurological defects. In rare instances, the gene mutation associated with AGS is not inherited from a parent. It is simply a random mutation that occurs, without any known medical cause, which is the case for Eli. He stopped developing new skills and began losing the skills he already acquired, has both weak muscles in his core (hypotonia) and stiffened muscles in his arms and legs (hypertonia), and spasticity in his hands.
Despite the challenges this disease brings, Eli goes to therapy four days a week—physical therapy, occupational therapy, and speech/feeding therapy. Beyond his therapies, as parents, we work with Eli tirelessly and pray over him every day. Progress may be slow, but Eli's positive spirit shines through.
Currently, Eli is on a journey to reach several developmental milestones, such as sitting independently, talking, walking, and feeding himself. Holding a toy, utensil, or cup is a work in progress. Since the beginning of 2024, Eli has been demonstrating increased movement in his right hand/arm and exhibiting strength in his body. A noteworthy achievement was his independent sitting for about 4 minutes, marking the longest duration he has ever sat on his own. Hope fuels our days as we witness Eli's determination to acquire these abilities by the grace of God. In this journey, we've made a heartfelt promise—to never give up on Eli and to inspire him to never give up on himself.
AGS is an unfamiliar road, affecting less than 200,000 people in the US population. With your support, we can fund critical research and help ensure Eli receives the care he deserves. Our journey with Eli has inspired a mission close to our hearts—raising awareness and funds for both Aicardi Goutières Syndrome (AGS) research and Eli’s medical expenses.
Eli’s Journey to a Diagnosis: A Battle Against the Unknown
In the beginning of June 2021, our world seemed like any other happy family's. Our son, Eli, was hitting all the developmental milestones—saying "mama" at 8 months, attempting to crawl by 9 months, and exhibiting the joyous ability to play independently by reaching and grasping his toys. Little did we know, life was about to take an unexpected turn.
The Start of Concern:
At 9.5 months, Irregular movements emerged, resembling the Moro/startle reflex but more pronounced. Concerned, we sought guidance from his pediatrician, who feared cerebral palsy. The journey to find answers began.
The Frustrating Search for Answers:
Booking appointments with four pediatric neurologists across South Florida, we faced a waiting game until December 2021. Eli began regressing—no more "mama," no more crawling attempts. Therapy started in August 2021, but the elusive diagnosis remained out of reach.
Hospital Visit and Misdiagnoses:
Fast forward to September 2021, after persistent daily phone calls, we secured an earlier neurologist appointment that veered unexpectedly. The neurologist, concerned about potentially life-threatening seizures, prompted an immediate hospital stay. Following a sequence of procedures, ranging from Video EEGs to an MRI on Eli's brain, the results proved inconclusive. Nonetheless, the medical team was inclining towards the possibility of Eli experiencing a rare type of seizure. The suggestion of anti-seizure medication felt premature in the absence of a definitive diagnosis, particularly when test results remained inconclusive.
Genetic Mystery Unfolds:
The medical puzzle led us to a Geneticist, revealing a rare gene mutation in Eli's IFIH1 gene. This mutated gene surfaced spontaneously, with no inheritance from either parent. Then directed to Children's Hospital of Philadelphia (CHOP), renowned for addressing rare gene mutations, our wait for answers continued.
February 2022: The Diagnosis We Needed:
Finally, in February 2022 our prayers were answered by receiving a formal diagnosis. The Neurologist at CHOP diagnosed Eli with the later onset of Aicardi Goutières Syndrome, AGS7. The relief of a diagnosis, especially after months of uncertainty, sleepless nights, and tireless tears, brought with it clarity. We now understand what we are dealing with, so it is now about how to navigate this disorder, for Eli to have the best quality of life possible.
Summary:
As a commitment to advancing AGS research, 50% of the raised funds will be dedicated to supporting the Aicardi Goutières Syndrome Advocacy Association (AGSAA) Foundation. The remaining funds we raise will be directed towards additional therapies and equipment, offering Eli more opportunities for progress and development.
Your generous support not only aids in Eli's care but also propels vital research initiatives, bringing us one step closer to unraveling the mysteries of AGS. Stand with us in this impactful journey, and let's make a lasting difference. #EliStrong #AGSAwareness
Your unwavering support means the world to us, and we want to share our fundraising plan openly.
Fund Allocation of Each Donation:
• 50% to the AGSAA Foundation: Your support fuels critical research for Aicardi Goutières Syndrome (AGS), bringing us closer to understanding and ultimately conquering this rare genetic disorder.
• 50% for Eli's Care: The remaining funds are dedicated to Eli's ongoing needs. This includes additional therapies not covered by insurance, such as intensive therapy, Dynamic Movement Intervention Therapy, Aqua Therapy, necessary medical equipment, and accessible transportation. These resources are vital in ensuring Eli receives the best care, therapies, and opportunities for a fuller life.
Why This Approach:
We believe in transparency and want you to know that every donation, regardless of size, plays a vital role in Eli's journey and the broader fight against AGS. By splitting the funds, we aim to balance immediate support for Eli with a long-term commitment to advancing AGS research.
Your Impact:
Your generosity and support are the driving force behind our mission. Together, we can make a lasting impact, not only in Eli's life but in the pursuit of a cure for AGS. Thank you for being a part of this journey.
With heartfelt gratitude,
Mom and Dad
Stay connected with Eli's journey and see the impactful difference your donations are making by following @EliAGSWarrior .
Children’s Hospital of Philadelphia
Aicardi Goutières Syndrome Advocacy Association
#EliStrong #AGSAwareness
Organizer
