George was born a smiley happy baby to his two parents, Jessica and Erik. They fell in love with their beautiful baby boy the very instant they laid eyes on him. Erik even had the remarkable opportunity of helping to pull George out of the womb and says that, "to this day, he can feel George's little body in his hands." George's parents slowly watched him develop into a loving, sweet, and emotionally intuitive little boy, who brought nothing but joy into their lives.
Erik and Jessica already had a sense of the usual milestones children should be reaching while they age, as George was their second son. George was reaching the predicted milestones, but they were coming several months later than expected. George's parents became particularly concerned when they noticed his delay in speech development. They remained as optimistic as they could and reminded themselves that all kids develop differently.
Something Was Different
When George was around two years old, they could not ignore it any longer. It was clear something more serious was going on. They decided to take him to a speech therapist in hopes of helping him get back on track, but it became apparent he still was not making the expected progress. Specific diagnoses, like autism, were brought to their attention, but George never fit any label perfectly, and no doctor could comfortably diagnose him. George's parents had to live in the uncomfortable uncertainty of not knowing what was going on with their child. As he got older, it became more apparent that things were not changing for the better, and it got harder and harder to cope with not knowing why.
Finding Out Answers
George's issues remained a mystery for many years. He had a few preliminary genetic tests that came back normal, but then he was given a more comprehensive genetic test. Jessica remembers not being too concerned with what the results would say, as none of the previous tests showed any abnormalities. Jessica ended up going to the appointment alone, while Erik stayed at work. Jessica's optimism quickly took a turn when the doctor asked if she wanted to call her husband; that was the moment she realized the results might be a lot more significant than expected. The doctors told her that George had an extremely rare disease called aspartylglucosaminuria (AGU), and in that moment Jessica felt utterly shocked and terrified. Her feelings only worsened when she heard what the eventual outcome would be for her child. Every parent's worst nightmare is outliving their child, and for AGU, this is a petrifying reality as the condition considerably shortens the lives of those who suffer from it.
Often diagnoses can come with a sort of relief. You now know that what has been plaguing your child has an actual name, which is incredibly validating. But generally, with a name comes the hope that, if something has a name, maybe it has some form of treatment. However, George's parents learned the upsetting reality that there was no current treatment for AGU.