Cobbitty’s Megan Toole shares daughter Olivia’s health battle with genetic disorder

What was meant to be an overnight stay has turned into a nearly 300-day battle for survival in hospital for one young Cobbitty girl. But, she and her family are still fighting.

Olivia Toole.

Code Blue. Two terrifying words that have become almost normal in the life of a 12-year-old girl and her parents as she fights for her life in hospital.

The medical signal means a patient is undergoing a medical emergency in the form of cardiac arrest or respiratory arrest, and it’s the latter that often threatens Olivia Toole’s life.

At just 12 years old, Megan and Andrew Toole’s daughter has struggled from the day she was born prematurely.

Then, just after Olivia’s first birthday, she was diagnosed with a rare genetic condition called Phelan-McDermid Syndrome which causes developmental delays and more than 40 per cent of people diagnosed also suffer from seizures.

“In December 2015, when Olivia was just five years old, she had her first prolonged seizure,” Mrs Toole said.

Olivia Toole pictured with her family.

“We were holidaying in Nelson Bay and had gone for a walk when Olivia began to have a seizure on the side of the road … she was twitching on one side of her body, frothing from the mouth, unresponsive and appeared grey in colour.”

Olivia needed two paramedics to treat her in the back of the ambulance as her parents prepared for the worst, but she managed to pull through.

Olivia Toole, 12, is fighting for life after a lifelong battle with a rare disease.

However the Cobbitty family were staring down the barrel of a long recovery as they had to teach Olivia eat and drink.

In early 2022, Olivia began having choking episodes with food and drink and it was no longer safe to eat foods or drinks orally.

“Olivia had surgery on the August 15, 2022, for a PEG (Percutaneous endoscopic gastrostomy) to be placed to help with nutrition and medications by passing the airway,” Mrs Toole said.

That was meant to be an overnight stay, but there were serious complications and Olivia has been in hospital for nearly 300 days.

Olivia Toole little brother give her a kiss.

“In mid November, Andrew and I were confronted with no other option but to agree to a tracheotomy to keep our daughter alive,” Mrs Toole said.

The Tooles then spent weeks preparing to finally bring Olivia home this year but at 3.50am on January 20, she suffered a respiratory cardiac arrest.

“This has left her fighting for her life once again but this time more serious,” Mrs Toole said.

“Olivia suffered a significant brain injury causing ongoing seizures, dystonia and more. We had no option but to agree to have her placed in a induced coma, to have her brain rest completely.

“The brain injury is significant and although seizures have stopped, Olivia is very unwell. We now find ourselves talking to the neurology and palliative care team about the prognosis and end of life care.”

Mrs Toole said they continued to love Olivia and hope for the best as the managed the battle one day at a time.

“We have a three-year-old at home too and our family is being torn apart,” she said.

“Prior to all this, Olivia was a little bubble of energy, and she is always happy. She has been non-verbal but she has loves people … she always makes everyone smile.

“We are still fighting to get her well enough to come home. That’s why we do this.”

Mrs Toole said the community from the Macarthur region had rallied around them with one GoFundMe last year raising more than $30,000 while her brother has started a second one to help cover costs this year.

She also thanked a friend of the family John McDonald who has rallied his mates to help do the necessary renovations for Olivia to come home, saving the family the long wait through NDIS.