Bohring-Opitz Syndrome Foundation, Inc.
"The Best Life for All Families Living with BOS"

BOS Patient Stories

Bohring-Opitz Syndrome Patient Stories




I wanted a baby. I wanted a baby so much I cried, I cursed, and I prayed. After 9 months of trying to conceive my prayers were answered. I was pregnant! According to all my doctors (I was considered high risk because I have a sibling with a congenital heart defect) my pregnancy was “perfect.” Looking back, the only “red flags” were that my little baby kept his thumbs clenched on every ultrasound and that he had over an inch and a half of hair! The doctors and ultrasound technician couldn’t believe it!  I went into labor at 39 weeks and had a NICU team standing by since meconium aspiration was suspected when the nurse broke my water.  After 15 hours of labor, my baby boy came into this world and was finally in my arms.  We instantly named him Vaughan because of the bright red birthmark on his forehead in the shape of the letter “V.”  It was meant to be! He was whisked away to the nursery to get checked out by the NICU staff and to get checked over while I settled into my recovery room.  After about 2 hours, I wanted to see my baby and to hold him again. I called the nursery and the nurse told me they would bring him to me soon. After about forty-five minutes, I called again. This time he was having a hard time passing his hearing screening. Another hour passed. I called again. The nurses were bringing him soon. After about another thirty minutes, a NICU doctor came to my room.  The doctor looked solemn and began to tell me my sweet baby boy did have meconium aspiration and that he was very sick. He was having a difficult time regulating his temperature. They had placed him in the NICU and put him on a breathing machine to help him. But there was more . . .he didn’t pass his hearing screening, he was showing significant signs of severe reflux, he had a tongue and lip tie, and a high palate. He also looked different than other babies and the doctor suspected he had an underlying genetic disorder.  MY WORLD CAME TUMBLING DOWN.  Vaughan was very sick for almost 2 weeks in the NICU and continued to have severe reflux.  We were there by his little incubator every day.

When he was well enough to come home, we were thrilled. However, he continuously would spit up, sometimes whole bottles. It wasn’t normal. Four days later, we took him to the pediatrician. He wasn’t gaining weight. His pediatrician immediately had us admit him into Children’s National Medical Center in Washington, DC for further testing.  He was in the NICU for 3 days, while teams of doctors from GI, Neurology, Cardiology, Genetics and more ran an array of tests but they all came back normal. The only test that showed anything significant was his MRI showing he had complete agenesis of the corpus callosum. Doctors assured us that could mean he would be fine, or that he might have some learning difficulties.  Since Vaughan was doing better than a lot of other babies, they transferred us to a regular room where he would be monitored and more testing would continue. Everything came back normal. The geneticist assured me that before we left, we would have an answer. What was going on with our baby? To us, he was perfect! But why was he having so many issues?   

After a week at Children’s, they discharged Vaughan. No one had an answer about why our little guy was having so much trouble. If anything, we had more questions leaving than we did when we got there! So, we followed what the doctors told us to do. We added calories to his formula, at 4 months old we got him glasses, at 5 months old we enrolled him in early intervention and got him hearing aids, and we continued to do 3 loads of laundry every day because of his nonstop spitting up/vomiting.  At 6 months old we took him to a GI doctor for a follow-up. We pleaded for the doctor to help us with his reflux, but the doctor insisted that it “was normal baby reflux” and said there was nothing he would do until Vaughan was a year old.  Only after he turned one would the doctor consider doing a Nissen Fundoplication and inserting a G-tube.  In the meantime, Vaughan’s audiologist recommended we try ear tubes. At 9 months old, he got his first set and had a sedated ABR.  Not only did the results show that the tubes worked, but that Vaughan had completely normal hearing! My baby could hear my voice!

At 15 months, Vaughan had his Nissen Fundoplication and his G-tube placed. His recovery was one of the hardest things we had to go through, but after about 2 months, he was finally getting back to his sweet, happy, cuddly self. The gagging and retching subsided and he was finally putting on weight at a rate that made his doctors happy.

April of 2014, we finally got a diagnosis for our baby.  We had to jump through hoops to have the genetic testing completed, but it held the answer.  Vaughan had Bohring-Opitz Syndrome.  It was so rare that our geneticist had never even heard of it and gave us some literature on one of the only studies ever done on children who had it.

I immediately went home and found the Facebook Group for children with Bohring-Opitz Syndrome and requested to join. What a lifesaver! I wasn’t crazy! My baby was like the other children . . .and looked almost exactly like them too! There was Okke, Jackson, Eva, Jamie and so many more!

Today, Vaughan is four years old and goes to preschool where he gets physical therapy, speech therapy, vision therapy, and occupational therapy. He also spends time with his Mimi and Pop Pop and enjoys when his Nana and Papa can come visit. His favorite things are eating pureed foods by mouth, playing in the bathtub, looking at books, listening to music, swinging and being the light of our lives.  He does not walk or talk yet, but he definitely lets us know what he wants and needs! He is one of the sweetest, happiest, funniest, kindest, and just overall genuinely wonderful children I have ever known. It’s a constant battle advocating for him when so little is known about my little man and the other children who have this condition, but I wouldn’t have it any other way. He is the reason I get up in the morning. He is the reason I work as hard as I do. He is the reason I am the fierce mom that I am. He is so special to us as well as the other families and children with BOS. Please share our story and spread awareness about this syndrome so that other families may understand us and our children better!  

Taylor Gurganus1 Comment