baby

'Six little birth marks' on nine-week-old baby Emme were a sign of a deadly condition.

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.

Neurofibromatosis type 1
Emme with her family. Image: Supplied.

“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.

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“I was shocked, angry and disbelieving. How could a few little marks on her skin show such a bad condition?

"But the saddest day was when we saw our private paediatrician and he confirmed it was NF. That was when the grief set in. I sat in the hospital corridor sobbing too hard to even drive."

Still disbelieving, the family sent DNA off for testing in the United States. Four long months later, NF was confirmed.

Zoe said most children are diagnosed much later when other symptoms present such as scoliosis, autism, headaches and seizures or repetitively broken tibia, which eventually requires amputation.

She said it is a spectrum disorder and 60 per cent of people with it may be so mildly affected they may not know they have it until they have children of their own and it shows up in them.

Neurofibromatosis type 1
Baby Emme with her older brother. Image: Supplied.

At just two-years-old an MRI showed multiple lesions including one on the brain stem.

“She had begun waking at night clutching her head and screaming ‘ow, ow',” Zoe said.

The lesion quickly turned into an inoperable tumour infiltrating through the part of her brain responsible for her heart rate, eating and swallowing.

“We had MRIs every three months and each time it had grown."

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Emme underwent 14 months of rigorous chemotherapy which the family was told had a 30 per cent chance of shrinking it.

“She was extremely sick with the chemotherapy. She lost her hair in the first four weeks and that was breaking point for her. She would choke on it in her sleep because it was covering her pillow. One day Harry started screaming when he was stroking her hair and chunk of hair fell out in his hand.

"Once the hair was gone, she was instantly recognisable as a child going through chemotherapy, so I had to put my armour on each time I left the house. That was the beginning of feeling very exposed to the world. Then she needed the feeding tube and it felt like we were taking giant steps backward."

Neurofibromatosis type 1
“It goes against every instinct you have as a parent. Many times I broke down and said I can’t go on," said Zoe speaking about her daughter's chemo. Image: Supplied.

Continuing the chemotherapy was far more difficult than the family could have imagined.

“It goes against every instinct you have as a parent. Many times I broke down and said I can’t go on. I just wanted to say to Emme over and over I am so sorry. She did it with such bravery, I realised I had to step up to that level."

The chemotherapy has finished and while the tumour has not shrunk, it is stable for now. The family are all holding their breath waiting for the results of the next MRI due in eight weeks and giving Emme, who is now four, a chance to recover. They hope new treatments may become available to keep fighting the brain tumour as well as others she has through her body.

The brain stem tumour continues to make its presence known causing Emme to choke through the day and night and her speech to deteriorate.

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“It will start to grow again. They can stabilise in early adulthood but the chances of Emme getting there are not likely.

"Emme is the sweetest, brightest spark, bringing so much joy to everyone.”

This bright spark and Emme’s heartbreaking story caught the attention of Brisbane-based shoe company, Petit Barcelona.

Owners Helios and Lauren also have a four-year-old daughter and sought the help of their manufacturer in Spain, a 92-year-old grandfather, to design their sparkly Emme shoes.

Neurofibromatosis type 1
Em wearing her namesake shoes. Image: Supplied.

Money raised from the sale of the shoes will go to the Children’s Tumour Foundation to establish a multi-disciplinary treatment centre in Brisbane for people with NF.

“Sparkle and shine is very hopeful, and the shoe has become a symbol of better times ahead. It has opened doors in the community as people heard about the shoes, they shared their stories of other children with cancer.

"It has become a soul changing diagnosis and I want to create something that is brighter and provides hope for other children in this situation."

May is Neurofibromatosis, Type 1 (NF) awareness month.  To find out more visit www.ctf.org.au

If you would like to purchase a pair of "sparkly Emme shoes" and support the Children’s Tumour Foundation, click here. 

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