By Scott Thompson
THIS HEARTBROKEN mum was devastated when she found out her daughter had been born with a rare condition that caused TUMOURS to wrap themselves around her SPINE and later left her fighting for her life when the growths became SO BIG that they started CUTTING OFF HER AIRWAYS – but despite doctors saying she will NEVER TALK or sit and walk unassisted she is already proving them wrong.
Stay at home mum Rachael Gatti (21) from Launceston, Tasmania, Australia and stay at home dad Jak Plumbridge (23) found out they were pregnant in October 2016 at five weeks. Rachael was worried about becoming a mum but also extremely excited.
She had a fantastic pregnancy with no complications and all her scans went smoothly and on June 30, 2017 they gave birth to their daughter Sienna Beverley Plumbridge (2).
When she was born Sienna was unable to move her limbs normally, and when she didn’t get better after two weeks, on July 14, 2017 Sienna had an MRI scan. To Rachael’s horror she could see potential tumours on the scans, and she couldn’t hold back the tears.
Subsequently, Sienna was then transferred to a specialist children’s hospital where they performed a biopsy. The results formally confirmed the tumour and she was diagnosed with neurofibromatosis (NF1), which is a rare genetic disorder often causing tumours along the nerves.
In Sienna’s case the tumours were wrapped around her spinal cord and due to the location, the tumours can’t be removed safely.
“When I found out I was pregnant in October 2016, I was kind of scared but also really happy because I’ve always wanted to be a mum,” Rachael said.
“All my scans were great, there were no indications of any complications to do with my daughter. In fact, we had no idea there was anything wrong until shortly after she was born.
“Our doctor’s words were that our baby was ‘pretty floppy’, and she didn’t improve after two weeks so she was sent for an MRI scan.
“I was really scared and upset when I saw the results. I could see that there could be tumours inside of my baby and as soon as I saw that scan, I cried.
“She was transferred to the Royal Children’s Hospital in Melbourne, Australia, where they gave her a biopsy and all we could do is just wait for those results.
“It turned out our Sienna has neurofibromatosis which is also known as NF1. It’s a genetic disorder and affects about 1 in every 2500 people. It affects the nervous system and can cause tumours to grow inside or outside of the body along nerves.
“For Sienna it has caused a tumour to be wrapped around her spinal cord.”
On March 2019 and she was rushed into intensive care at the hospital because her tumours got so big that they were cutting off her airways. It took three months of treatment with the use of a drug called MEK inhibitor which is used to reduce the size of the tumour.
Although doctors aren’t as optimistic as the parents, Sienna has been having physiotherapy, occupational therapy and speech therapy to help her to reach her full potential and has already proven them wrong and achieved wonderful things.
Doctors told the parents that she would never talk, and that sitting or walking on her own was out of the question.
But she defied that and although not walking yet, she is able to sit assisted and can say lots of typical words babies use. She still has limited use of muscles and her core strength due to the location of the tumours, but they are working hard on those areas.
“The hardest part has been when we have had to rush her into hospital,” said Rachael.
“The doctors kept saying she probably wasn’t going to make it because the tumours got so big, they were cutting off her airways and she couldn’t’ breathe. Thanks to our amazing team at the hospital within just three months of treatment using a drug called MEK inhibitor they made the tumour so much smaller.
“Sienna’s condition mainly affects her physically. Because of the location of the tumour, it has limited her muscle strength, core strength and her limb movements. She cannot walk or sit on her own.
“She also has sleep apnoea, which means she needs to use a machine each night to help her to breathe.
“We are working hard on these every day, through physio, occupational and speech therapy and even though she can already sit assisted and say many words, the doctors still don’t believe she’ll be able to talk, walk, or sit on her own in the future.”
The couple do not know what the prognosis is for Sienna. They continue to use the different therapies being offered to help her be as strong as possible.
Both their family and friends have been very supportive and to their surprise the support of the public has also helped a lot.
“The best part of our journey has been watching our baby grow in many different ways. She’s learnt how to move her arms and legs again and she’s even learning to eat solids which is amazing progress since we were told she’d never do any of these things,” Rachael said.
“She has such a wonderful personality, she’s so happy, sweet and bubbly… and, like many children, she absolutely loves watching Peppa Pig.
“We have had incredible support from my and Jak’s family, our friends and even the general public which has been simply amazing.
“My advice for those going through the same thing or something similar is to never give up. It will absolutely get easier. Bad situations can get better and there is always light at the end of the tunnel.”
Check out the family’s Instagram.