"The Best Life for All Families Living with BOS"

BOS Patient Stories

Bohring-Opitz Syndrome Patient Stories

Rosemary

Rosemary was born September 24, 1989 at 5lbs and 12oz. She came 3 weeks early and was born very jaundice, with hypothermia. Being born with congenital abnormalities such as abnormal palate, small head size, thick hair and low hair line, dislocated radial heads, low set ears, dropped hands and hypotonia (just to name some), it was obvious she needed to be seen by a geneticist. We saw Doctor Elaine Zackai of the Children's Hospital of  Philadelphia (CHOP). She knew rosemary probably had some type of syndrome, but could not identify which one.

During our first 6 months, we spent much of our time with multiple Doctors and in hospitals. We really had no clue what to expect at this point. We were told to expect physical and cognitive delays, but would learn more as she grows. Within her first year, she experienced sleep apnea and was put on a monitor until she was 18 months. She also developed reflux, feeding difficulties, severe constipation was considered failure to thrive, had bronchitis and croup many times. Rosemary also had many ear infections and in all she has had 11 sets of ear tubes. Rosemary is near sighted and received her first pair of glasses at 5 months. We spent the next years seeing therapist, doctors and going to early intervention. She sat up independently at 2 years old. By school age, she already had MAFO's and a walker.  She was only able to go short distances with her walker and really never progressed beyond that.

Over the years she has experienced many surgeries such as hamstring and heel cord lengthening, bowel obstruction surgeries, spinal fusion, ear tubes and bilateral ankle pins. She even had some surgeries more than once. Through all of this she stills smiles everyday! 

Rosemary is now 27 years old! She is a very social and happy girl! She is non-verbal, but can make some of her needs known to us through gestures and vocalizations. She is able to eat and finger feed herself most foods. She can make choices when given the opportunity to do so. She sits up on her own and crawls on her own! She is dependent on her family for everything, we try to provide her with the best quality of life we can. She attends an adult day care 5 days a week for about 5 hours a day. Rosemary spends the rest of her time with her parents, her amazing sister and many loving family members and friends!

Although our experience was life changing, we were able to stay strong and learn new things with Rosemary, along with new ways of looking at life. We remain positive always, take one day at a time, and keep moving forward as a loving happy family.

We are blessed to have found the BOS family and hope we can be of some support to others and develop life long friendships.