Leading up to Rare Disease Day on February 28, we will be sharing personal stories from some of the amazing patients and caregivers who make up our Rare Patient Voice community.
“Hi, I’m Brooke and this is our son Bexton. He’s 7 weeks old and has Pierre Robin Sequence (PRS), Situs inversus totalis, and a Cleft Palate. While we are only at the beginning of our journey and Bex is still in the NICU he’s grown so much. At 20 weeks pregnant we were told that Bex was diagnosed with PRS. We saw a couple specialists to confirm, and found he also has Situs inversus totalis (meaning all of his organs in his chest and abdomen are flipped) and then during a fetal MRI found that he has a Cleft Palate. At 36 weeks and 4 days through a surgical procedure called an EXIT procedure he was born and immediately had a tracheotomy inserted due to the recessed jaw prohibiting him from being able to breathe from his mouth. At just 2 weeks old he received his G-tube to help him eat. He also just became able to be off his ventilator during the day. Rare Patient Voice has been an outlet for his father and I too and also allowed us to speak out and share ours and Bex’s journey.”