If you had a superpower, what would it be? The ability to fly? Super strength? Turn invisible or read minds?
Photo via William Morris Agency (management)/Photo by Maurice Seymour, New York./WikiCommons
I’ve always heard people who lack one sense – sight or hearing, for example – have others that work twice as well, so I checked the Googles and found this from Scientific American: “If one sense is lost, the areas of the brain normally devoted to handling that sensory information are rewired and put to work processing other senses.” Hence Ray Charles and Stevie Wonder’s enhanced hearing and resulting musical badassery. Not technically a superpower, but they for sure made the world 10% happier.
Using that logic, Joesiah should have a superpower greater than all six Avengers combined. His sight and hearing are both extremely reduced, he can’t walk or talk, and he can only eat via the feeding tube in his stomach. Instead of experiencing things the way most of us do, Joesiah’s world is like…Spidey sense on steroids, in the most beautiful ways.
“What are some things Joesiah really likes?” I asked his dad Jose. I wanted to know more about Joesiah’s personality, more about life outside his diagnosis. Oh wait, I need to tell you about that, too.
Joesiah was born almost two months early, and aside from being tiny and having regular preemie issues, he was a pretty typical baby.
Teeny, but typical.
But a few months after he was born, his parents worried he wasn’t quite as typical as they thought. He wasn’t growing well, or developing like other babies his age, and they noticed his mouth had a natural frown about it.
They took him to doctor after doctor, and after much testing, were told Joesiah had Cornelia De Lange syndrome. Only it wasn’t Cornelia De Lange syndrome, and it would be another two years before genetic tests revealed their son’s correct diagnosis: diploid tetraploid mosaic syndrome.
Actual footage of Joesiah’s reaction to being misdiagnosed.
Diploid tetraploid mosaic syndrome is an incredibly rare condition where patients have four copies of their chromosomes in each cell. Not all patients have the exact same mutations, and Joesiah happens to be the only known patient with his particular presentation. Research scientists even wrote an entire clinical study about him – he’s kind of a big deal.