Eli, 4.5 years old, GA-1update
In the Fall 2024 Newsletter, Mike and Sandra Wagner shared their story about their son, Eli. Diagnosed with GA1 through newborn screening, Eli suffered a metabolic crisis at just 5 months old. By the time he was nearly 2 years old, he was placed into foster care. Fortunately, Mike, Eli’s grandfather, gladly accepted the responsibility to take care of Eli, and they adopted him shortly after.
Recently, Mike and Sandra shared an update on their lives as parents to 4.5 year old Eli. Mike noted that Eli has come a long way, both physically and mentally, but they have continued to face new challenges as he grows. While Eli doesn’t eat very much, he has started to become interested in food! He loves the grocery store and prefers savory over sweet flavors. One memorable moment occurred when Eli expressed interest in pizza. Sandra and Mike immediately ordered his own personal pizza, and although didn’t eat very much of it, Sandra says they celebrate any interaction he has with food as a win. Since Eli experienced a stroke at 5 months old, he hasn’t fully learned how to eat, including moving food around in his mouth and using his tongue. Eli is working with a therapist to practice these movements. Mike shared that despite this struggle, Eli’s sense of smell and sight seem to have amplified. He is very sensitive to smell, and loves to look for airplanes high in the sky.
Currently, communication is the biggest concern in Eli’s life. He is in speech therapy and uses an iPad for support, but it’s difficult for Mike and Sandra to see him get frustrated when he can’t express his needs and wants. They know that Eli is very smart, and they work very hard to help him understand the world around him, including his GA1 diagnosis. They narrate their daily activities, including feedings and medicine, and have learned that Eli responds better when he knows what to expect.
Beyond Eli’s GA1 diagnosis, Eli has a very silly and empathetic personality. He loves racing through the aisles of Home Depot in his wheelchair, and Mike sweetly shared that Eli sometimes expresses his preference for Sandra by saying “Corner!” or “Door!” when he wants Mike to step away. Mike reassured he is not upset, as Sandra is a wonderful mother.
Eli goes to school from 8-11 am, but Mike and Sandra also juggle his numerous doctor appointments and therapy sessions. He participates in occupational therapy during school to practice skills such as coloring and writing, as well as different types of OT exercises at the hospital to develop basic life skills. Additionally, he attends feeding therapy, speech therapy, and physical therapy. During a recent visit with the geneticist, the doctor expressed surprise in Eli’s progress, underscoring how much he has grown in just a couple of years.
There is always concern that Eli will come home sick from school. Although he generally responds well to medicine, illness sometimes causes him to throw up, which means losing essential medicine and nutrients. On some occasions he has had to stay in the hospital to recover. Since Eli requires medicine and feedings during the night, Mike and Sandra have utilized nursing support at home. However, finding reliable nurses has been challenging, requiring them to train new hires frequently. Sandra explained that their experience navigating the healthcare system was initially complicated and frustrating. Fortunately, they have now found a new team of doctors who can take special care of Eli, including a genetics team, a dietician, and a psychologist.
Mike and Sandra have found a sense of community and support within their church. They have shared Eli’s story, and everyone has been very welcoming. Attending church every Sunday has become an enjoyable part of their weekly routine, including receiving blessings from their priest. Mike shared that Eli has started to ask people in public who look like their priest for blessings, highlighting his ability to light up any room.
At an OAA conference, Mike met Dr. Coughlin, a leading researcher for GA1. They got to talking, and Dr. Coughlin invited Mike to visit his lab in Colorado, an offer that Mike gladly accepted. This connection to OAA has brought comfort to the Wagners, reminding them they are not alone in their journey.
