Joubert Syndrome Awareness

"Incompatible with life." "Words that will always resonate with us and the first words we heard upon our 20-week ultrasound. We were told then that our sweet boy would be born with a cleft, without a stomach, with heart defects and brain defects and that he most likely had Trisomy 13 or 18, which means he wouldn't live long after birth (if we even made it that far).  While some of that is true, much of it turned out to be false.  Bowen was born with a cleft lip and brain defects, the rest of him was there and fully functioning. After his birth and 79 days in the NICU, an MRI led us to Bowen's diagnosis- Joubert syndrome due to the distinguished molar tooth sign in his Brain (yes, his brain looks like it has a hollow space that looks like a molar tooth). Genetic testing after informed us that he has one of the rarest genes of Joubert Syndrome- OFD1. A gene that should be lethal to boys. Yet here he is still growing and thriving. He has lots of extra accessories- a g-tube, a trach, a ventilator, and a VP shunt.  Has undergone multiple surgeries and hospital stays- 5 lip surgeries, cleft palate surgery, numerous ear surgeries, and 2 VP shunt insertions, just to name a few.  Despite all of that the fun and smiles never stops. He enjoys going to the beach, playing in the pool, going bowling, fishing with Dad and the list goes on! He is a boy just living his best life!!"

-Written by Bowen's Mother