Bohring-Opitz Syndrome Foundation, Inc.

BOS Patient Stories

Bohring-Opitz Syndrome Patient Stories

River

After a seemingly perfect pregnancy River came 4 weeks early, on April 5th 2015 weighing 5.7 pounds. He was taken straight to neonatal ICU because I had a rough delivery and placenta abruption. The doctors suspected he had a syndrome because of his prominent eyes, clinched hands, port wine stains, small head, and downwards wrist. He got an MRI and they noticed he has partial ACC (Agenesis of Corpus Callosum). He was having breathing and feeding difficulties so he was on c-pap and had an ng tube. He had very noisy breathing and he was throwing up all the time. And ENT came to check out his airway and saw that he's got laryngomalacia (floppy/narrow airway) having the extra air blowing into his nose was helping him breathe well for a couple weeks but his reflux continued to get worse. He was aspirating the acid into his airway which let his small larynx close. He was incubated, on the ventilator, and heavily sedated after that episode. Finally, he was stable enough to get the Nissen Fundoplication surgery and G-tube at the end of May. He progressed so well after the Nissen but his airway swelling still did not go down any. He was finally able to get the tracheotomy in June after fighting off pneumonia. He came right off the ventilator a week after surgery! He was doing awesome and we were ready to come home. It took about a month for my husband and I to do all of our training to learn to take care of his trach and G-tube and to get set up with the in home nurses. Finally, after 100 day in the Hospital River was able to come home. The day before we came home the doctors brought me some print outs from the Bohring-Opitz Website and most of the symptoms matched him perfect. We have been clinically diagnosed but we are still waiting to get the gene testing done. We have plenty appointments with Gastroenterology, ENTs, Pulmonology, Eye, and Neurology in the future but these past 3 weeks River has been home and he's been gaining weight and learning.