Belinda and Dave were terrified as they kissed their beautiful one-day-old baby daughter, Amber, when she was wheeled into theatre for life-saving surgery.
Amber was born with Tracheo-Oesophageal Fistula (TOF) a rare congenital condition of the oesophagus (food pipe) that affects one in every 3,500 babies. In Amber’s case the oesophagus was not joined to her stomach so she was unable to swallow. Amber was also diagnosed with Patent Ductus Arteriosus (PDA), a condition that causes abnormal blood flow between two of the major arteries connected to the heart - the aorta and the pulmonary artery. Before birth, these arteries are connected by a blood vessel called the ductus arteriosus, a vital part of fetal blood circulation. Normally within minutes or up to a few days after birth, the ductus arteriosus closes. In Amber’s case, however, it remained open placing strain her heart and increasing blood pressure in her lung arteries. She was only 11-months-old when she underwent heart surgery to correct the problem.
On top of TOF and PDA, a standard new born hearing screening test showed that Amber had profound hearing loss. She received her first hearing aids when she was four months old and in late 2011, was fitted with a cochlear implant, an electronic medical device that replaces the function of her damaged inner ear.
During her first year of life, Amber was admitted to PMH over 20 times. As well as constant reflux and feeding problems, she suffered from severe bronchitis, an acute inflammation of the air passages within the lungs. The stress on her tiny body was immense. At just five-months-old, Amber went into cardiac-arrest whilst in ICU.
Amber’s first Christmas was spent in PMH’s Paediatric ICU with severe bronchitis. Belinda, 26 weeks pregnant at the time, was at Amber’s bedside when her contractions began. The PMH nursing staff rallied around Belinda arranging a quick transfer to King Edward Memorial Hospital. Dave spent a very nervous five days rushing between his daughters at home, his baby in PMH and his wife and unborn child in KEMH. Thankfully Belinda’s labour was able to be stopped and Hunter went through to 34 weeks.
Amber’s condition was a mystery for Belinda as although she was well aware Amber had TOF, and knew everything about what was involved with this, it did not explain the other issues Amber had, including her hearing loss.
But this all changed when Amber underwent a CT scan that discovered she did not have a vestibular system, which is responsible for balance and coordination. This meant that Amber should not be able to walk. For doctors and Belinda, this was the final piece of the puzzle because as a result Amber was diagnosed with CHARGE syndrome.
CHARGE syndrome is a chromosomal mutation that effects one in 10,000 babies. There is no cure for CHARGE syndrome.
While Amber requires on-going treatment involving countless more visits to PMH and faces several further surgeries to deal with her conditions, she is a bright, happy five year old who loves hot cross buns.