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

BOS Patient Stories

Bohring-Opitz Syndrome Patient Stories




Bowie Rix was a full-term baby from a problem free pregnancy. He was delivered on 13th April 2012 by an elective c section. Other than a bout of jaundice at 3 days old Bowie was a well child.  When Bowie reached 6 months old we realised that his development was an issue. We were reassured it was just because he was a boy that he was a bit lazy, but after persistent concerns to his health visitor, Bowie finally got assessed and referred to the child development centre. Here he got assessed more thoroughly and was linked with physio, occupational therapy, a specialist health visitor, a paediatric consultant, speech therapy, an early years teacher, neurologist and geneticist.

We were told there was a chance he had cerebral palsy but that got denied later on. Bloods were taken and all investigative avenues followed. Results came back clear until an MRI test was completed when Bowie was 17 months that showed he had Periventricular Leukomalacia, scarring to the grey matter of the brain. This was an indicator to Bowies delay, however the neurologist didn’t think the delay was consistent to the brain damage.

During an appointment with the geneticist we mentioned he has a red mark that flares up on his forehead when upset or angry. The geneticist thought of Bohring Opitz at this time and suggested we test for that.  Bowie was confirmed to have Bohring Opitz in July 2015 when he was 3 years old.

Bowies Symptoms

  • Severe Global Delay            

  • Periventricular Leukomalacia (brain damage)

  • Slow growth

  • Flammeus nevus

  • Droopy eyelids

  • Low muscle tone

  • No verbal communication

  • Limited mobility (he crawls on tummy)

  • Tonic seizures

  • Slight hearing loss

  • Ulnar deviation

  • Swallowing issues

Since diagnosis Bowie has continued with his therapies and is a typically well child. His usual medical obstacles are tonsillitis and ear infections. He is quite a calm and happy boy. He loves to flap toys, or anything that can be flapped, handbag straps, drs stethoscopes, anything he can get his hands on. He has learnt to prop on his forearms whilst lying on his tummy and commando crawls to where he wants to be. He is a very cheeky boy with an infectious smile. He has three big sisters that love him and dote on him and we his parents feel very blessed to have him in our lives. He has taught us so much. He’s our superstar!



Taylor GurganusComment