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

BOS Patient Stories

Bohring-Opitz Syndrome Patient Stories



Lindsay was born on July 7, 1988. There was nothing unusual about my pregnancy. Lindsay was born a week late and during labor she had ingested meconium. The delivery wound up being an emergency c- section because she was in distress. When she was born she was only 5 lbs and 7 ounces. The doctors called in a geneticist because they knew something was wrong but didn’t know what. She had a very low cry, extra large eyes, lots of hair not just on her head but all over her body. She has a submucous cleft palate, thumb placement was apparently abnormal, flat ears, very low muscle tone and she had a lot of trouble feeding. Lindsay shook her head for self stimulation all the time and still does. Lindsay also rubs her hand in a circular motion especially in bed.

As time went on she was considered a “failure to thrive” baby. She didn’t gain weight and threw up a lot. She had surgery for a Nissen Fundoplication and a G-tube. She had the G-tube for quite some time but does not anymore. Lindsay did not reach her milestones and we thought she might be blind. It wound up that she had severe myopia and was not blind. She started wearing glasses for this issue. She continues to take reflux medicine and have endoscopies to keep an eye on her esophagus. She later developed other GI issues as well as scoliosis. She has had a lot of orthopedic surgeries over the years as well. Lindsay had a grand mal seizure in 1998 when she was 10. She is now on Depakote  for that.

At the age of 4 she was diagnosed with a Wilms tumor. This is a tumor of the kidney. She had her kidney removed, chemo and radiation. She is cancer free till this day thank God.

I have always wanted to know what Lindsay’s diagnosis was for many reasons. I had Lindsay tested when she was born and then again when she was 10. There was nothing definitive and most doctors felt her characteristics were that of Cornelia de Lange syndrome.

This past May 2018 her old pediatrician saw the geneticist she had seen 20 years ago and asked if he was still in touch with my family. The doctor wondered if I was still interested in finding out Lindsay’s diagnosis. She felt she had a good feel for what Lindsay might have now. I agreed and we had genome sequencing done. The results were definitive in July 2018 that Lindsay had BOS.

I had always hoped to find a diagnosis, a place to fit in and find others that walk in our shoes. This was our third try with genome sequencing and this time it was conclusive, Lindsay has BOS. There was a peace of mind for me, my sons and my son's futures as well. We found a family to be a part of that truly understands. I thank you all.

Lindsay celebrated her 30th Birthday in July 2018! Lindsay is developmentally at a 9-12 month level and has no speech. She can walk solely assisted with a gait trainer. She always had and still does have a happy disposition unless she is in pain. She is approximately 78 lbs. and about 4’4”.

Taylor Gurganus1 Comment