Originally published in the Herald Sun, 12 April 2022
Words by Brigid O’Connell
Images by Alex Coppel
The Royal Children’s Hospital (RCH) staff went the extra mile to help Mia Mancini celebrate her seventh birthday while being treated for Rett syndrome.
After two months in hospital, the best birthday present for Mia Mancini was being reunited with her family for cuddles and lunch outside the ward.
The seven-year-old has been a frequent flyer at the RCH since she was diagnosed with the rare genetic neurological and developmental disorder Rett syndrome at age two.
But this is the first birthday she has spent in hospital.
Amelia suffered a month-long health deterioration and merry-go-round of doctors visits. What started as a suspected lingering daycare cold, ended 25 days later with her being carried – passed out – into the emergency department of the RCH.
Two months ago Mia was having non-stop seizures – 180 episodes in 24 hours at one point – which required many stays in intensive care.
And while the seizures virtually wiped the slate clean with her development, putting her in a wheelchair and relying on a nasal feeding tube, now the epilepsy is controlled the focus is on rehabilitation and the path to home.
Mum Chantal said now that her daughter was starting to feel better, she was looking forward to getting back on her feet and using her eye gaze communication device again.
“Anything she’s thinking about, all of her thoughts and feelings, she can communication by looking at the cells on the screen. They speak out loud what she’s trying to say,” said Chantal.
“She looks at ‘I want’ and then looks at ‘cuddles’. One thing she has been saying a lot lately is ‘I want puppy’.
“She is the most resilient and determined strong little girl. She puts the fight in fight. She’s a little warrior.”
There is no cure or specific treatment for Rett syndrome, which progressively affects speech, walking and hand movements.
But under the care of senior neurologist Andrew Kornberg, a team of allied health therapists and a clinical trial testing a new treatment aiming to improve her hand function and communication, Chantal said they were supporting Mia to be “the best she can be”.
“What Andrew has done for our family, it makes me emotional. He’s an angel without wings,” she said.
“He’s the most amazing person that ever came into our lives. Everyone at the RCH has provided us with the most amazing care, not just for Mia, but they look after the whole family.
“The support they provide families at their hardest moments is just exceptional.”