Nine-month-old Edgar is the first child to two loving parents. His father works in a pharmacy and his mother works taking care of him, cooking, and cleaning. Edgar has a rare genetic disease that makes him unable to convert glycogen into glucose, the form of sugar that his body can use as fuel. This has made him have chronically low blood sugar, leaving his brain and body severely starved of energy, making it likely he will get seizures if he does not receive treatment.
Doctors diagnosed him with glycogen storage disease type I, meaning that he needs to consume high levels of simple sugars in order to prevent seizures and give his brain and body the energy it needs to develop. Although he is currently 9 months old, doctors say that he is developmentally only about 3 months old– he is unable to sit up or eat on his own. Without intense support, Edgar’s life is in danger, and he could face permanent developmental delays.
Although Edgar’s parents work hard, they do not have the resources to provide Edgar with the sugar-rich supplements he needs to maintain high levels of blood sugar. The hospital subsidized his feeding tube, but did not provide his parents with any training about the best way to care for their child, to get genetic counseling, to provide him with therapy to improve his development, or offer them long-term support for this serious disease. They feel lost and are worried about their son’s well-being.
Fortunately, we can help. $1,385.00 will fund the treatment Edgar needs. The treatment will give Edgar and his parents the medical and support they need to give Edgar the best life possible. Edgar will receive comprehensive genetic diagnostic testing to confirm his diagnosis. He will receive an MRI to see if his condition has caused any permanent brain damage, allowing our medical team to give him personalized care. His parents will receive intense education to ensure they know how to best care for Edgar. Without this treatment, Edgar is at an extremely high risk for seizures, and permanent developmental delays.
“I hope my son can come out ahead, live a normal life and be a good man one day,” his mother shares.