A mother has been confronted with the harrowing news that no parent wants to hear – her daughter has an incurable disorder.
Emme, four, has Neurofibromatosis, but when she was first born there was no indication that anything was wrong, except for the fact that she had six small birth marks on her body.
Now mother-of-three Zoe Rehbein, 40, from Brisbane, has been on leave since her daughter was diagnosed with a brain tumour 18 months ago.
‘She was a wonderful, healthy, happy infant. We were besotted and couldn’t believe how much joy she’d brought to our family. We felt so lucky,’ Zoe told FEMAIL.
When Emme was nine weeks old, a single faint coffee-coloured mark appeared on her knee, and in the following days a few more appeared.
Concerned they were bruises, Zoe took her to the doctor, who told her they were only birthmarks.
A few days later Emme was hospitalised with a mild respiratory virus and while there Zoe took the opportunity to ask the paediatrician what the marks were.
‘It was more to ease my mind than anything, and the next thing I knew, the room was filled with people – doctors, students, and a lady who was documenting the marks on Emme’s little body,’ she said.
‘It was there, in the presence of all those people, that I heard that Emme most likely had a condition called Neurofibromatosis (NF), an incurable disorder.’
This is when tumours, benign and malignant, form anywhere in the body where there are nerves, including the spine and brain.
The marks, medically known as café au lait marks, are a clinical criteria for the condition.
‘A few days after the first hospital visit, I took Emme to our private paediatrician and he confirmed her probable diagnosis with a quiet sadness that I will never forget, and the fear and devastation hit hard,’ Zoe said.
Zoe and her husband Andres, 44, were given the choice to watch and wait for a second clinical criteria to appear – such as lisch nodules, bone abnormalities, or tumours – in order to be formally diagnosed, or to bypass the years of worry and have genetic testing.
They chose to have a DNA sample taken from their baby girl and sent it to a laboratory in America.
They waited four long months to receive the news they never wanted to hear – confirmation of the exact point in her genetic makeup where the mutation occurred.
This is when they found out she has Neurofibromatosis type 1 (NF1), a condition that affects roughly one in 2,500 people across the world.