When Zoe Rehbein welcomed her perfect little baby daughter into the world, she had no idea that only a few weeks later six little birth marks would be a sign of a deadly condition, taking away all dreams for a future.
The birth of Emme was long awaited and celebrated by the family including her two older brothers, Nicolas, 12 ,and Harry, 10, who were so thrilled with the addition of their new baby sister.
However nine weeks later, Zoe’s blissful joy of dreaming of lifetime of happiness with her first daughter turned to heart wrenching pain when six small marks that looked like bruises appeared on Emme’s body.
“They were very faint. Nothing that would jump out at you. I asked my GP about them and he said nothing to worry about,” the Brisbane mum told Mamamia.
A few days later, Emme was hospitalised with a minor respiratory problem and when another mark appeared Zoe took the opportunity to again ask doctors.
“The next thing I knew the room was filled with doctors and students and a woman who was taking pictures of the marks.”
Without even talking to the family first, the registrar began telling the students that baby Emme likely had a condition called Neurofibromatosis, Type 1 (NF) which causes tumours to grow throughout the central nervous system. It is a serious, incurable and unpredictable condition that occurs in 1 in 3000 to 4000 people worldwide.
These small, innocent looking café au lait marks were one of the diagnostic criteria for what geneticists refer to as “the cruel gene”. While many children have one or two of these birth marks, NF is characterised by more than six.