Usually parents deal with rule breaking when their children are entering their teens. But parents, Hanna and Danny Rose, have been watching their baby, Oscar, break all the rules of his condition since he arrived.
Oscar was born with a mild form of achondroplasia, a bone growth disorder affecting the length of arms and legs. Prenatal scans detected the abnormality at 38 weeks.
The couple’s own research led them to The Royal Children’s Hospital (RCH) where they were reassured by Professor Ravi Savarirayan, an internationally renowned expert in genetic skeletal disorders.
Danny expressed surprise when Oscar was born, his legs were not as tiny as he had imagined and Oscar looked like a normal baby. Professor Savarirayan refocused the couple’s attention on enjoying their baby, encouraging them to understand that Oscar was indeed a normal baby with a mild condition that does not normally provoke any complications in the first year.
But, on January 10, Oscar defied the rules when his lips and face turned blue and he stopped breathing. As soon as the paramedics had stabalised the him and left, Oscar again turned blue. Under observation in the Emergency Department of the RCH, the same episode occurred another four times.
The baby underwent every possible check, but tests proved inconclusive and the episodes were put down to a virus. The RCH Neurology Department continued to review Oscar’s case, and two days after he returned home, they found the source of his problems; his top two vertebrae were pressing on his spinal cord, stopping his breathing.
A risky surgery ensued that should have brought the Oscar’s troubles to an end. However, the seizures continued, the source of which is still relatively unknown and very complex.
Associate Professor Andrew Kornberg says that there are three factors contributing to Oscar’s seizures. Firstly, his severe reflux temporarily reduces blood flow to the brain and secondly, the area of his brain that controls breathing may not have developed properly. Thirdly, there are the unexplained seizures that Associate Professor Kornberg describes as small “storms of abnormal electrical activity that cause him to stop breathing”.
Oscar’s rare and puzzling condition has opened a new window for research into mild achrondroplasia, doctors suspect that other babies born with the condition may have suffered from the same complications.
Hanna and Danny are hopeful for Oscar’s future and give credit to Oscar’s specialists at the RCH. He may be eligible for a world-first drug trial for children with achondroplasia, run by the RCH and Murdoch Childrens Research Institute, that hopes to kick-start bone growth.
Click here for a gallery of photos from The Royal Children’s Hospital Good Friday Appeal on the Herald Sun website.