My nephew, a charming young man of 16, is in many ways a typical teenager. He has a little moustache, he seems to be all arms and legs, and he is, to put it nicely, just the slightest bit moody. If the world were fair, he would be getting his drivers’ license and thinking about girls.
But he is only 3 years old mentally. And his brain will never get any older.
His mother has known since early in his life that something just wasn’t right. He was late hitting milestones and never quite seemed to meet her eyes, even after he got glasses before his first birthday. He was born with only one kidney, a hole in his heart, developed seizures, couldn’t control his muscles. Brain scans showed abnormalities. But he was the cutest baby, with curly black hair and sweet baby cheeks. He enchanted everyone who knew him, even as they asked, “What is going on with him?”
Then an event when he was about three destroyed the left side of his already-fragile brain. It took away the few abilities he’d learned and switched him from being right- to left-handed. Despite doctors’ assertions that he would regain these skills in a couple of weeks, it took years.
This wasn’t the first time doctors tried to placate or blame her for his problems. They accused her of drinking during pregnancy (she didn’t) or just being an hysterical, over-protective mom, even after it became clear that she was right about his issues. This left her fearing deep down that somehow she really was responsible. There were never any concrete answers, so it must be her fault, right?
So it was with some skepticism that she enrolled him in the Undiagnosed Disease Network last year. A 5-day stay at Children’s Hospital in St. Louis involved 17 specialists and innumerable tests. At the end of the week, doctors still had no real clue what was going on, although they added a diagnosis of autism to his lengthy list. And they took blood from son, mom, sister, and even a DNA sample from his deceased father in order to do a Whole Genome Sequence.
And this week, they finally got an answer. He has a condition called ZTTK Syndrome, first identified in 2016. Only about a hundred children in the world have been diagnosed with this genetic mutation. There is no cure. There is no projected life expectancy. There is nothing more to do except continue as they have. On its face, nothing has changed.
And yet, everything has changed. Now she knows beyond a doubt that she is not responsible for her son’s problems. Instead, she has done everything right. She has been a fierce advocate for him despite all opposition. She has been vindicated, a new and strange feeling, and developed a new determination to fight. She has found there is power in knowledge and a strange sort of comfort, too—even when it doesn’t change anything.
Kind of like faith.