Email: info@pierrerobin.org.za  |  Mobile: +27 21 827 0240  |  Address: 4B St James Street, Somerset West, Cape Town, South Africa 

Gabriel – Born January 2011

Gabriel is 2 1/2 years old. He was diagnosed with Kniest Dysplasia. Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing.


Drs were able to diagnosed Gabriel before birth because in 2009 i was pregnant with a boy that had the same condition but was worst and the baby didn’t survive. Drs did the comparison and thats how they were able to diagnose Gabriel before birth. Gabriel was born in Jan 2011, he was 6lbs 11oz and 15? long. After Gabriel was born he was taken to the NICU for respiratory distress, he stayed there for 2weeks just on CPAP and nasal canula. After that he was discharged and sent home, where i noticed that he was having trouble breathing and was blocking his airway by rolling with tongue to the back of his throat.


At 7 weeks old Gabriel needed a tracheostomy tube due to apnea, tracheomalacia and PRS. When Gabriel was 6 months old he needed a Gtube because he would not drink enough by mouth.. He has a Cochlear implant on his right ear (Gabriel is deaf). Sept 2012, he had his cleft palate repaired and in July 9 he had a Jaw Distraction. Now, after the Jaw Distraction he is doing really good. We are hoping to get rid of the trach on spring 2014. Gabriel doesn’t walk or crawl yet, but with time and patience he will get there!