Diagnosis

Antonella is a bright, resilient little girl whose journey has already inspired so many people. From the moment she entered the world, she has shown a strength far beyond her years.

Antonella was born on the 06 April 2022. At three days old, she was critically unwell, she was unresponsive, cold, floppy, had abnormal breathing, and was rushed through to the Queensland Children Hospital PICU, where she required intubation, ventilation and haemofiltration. Within 12 hours she was diagnosed with a rare metabolic condition called propionic acidemia. Antonella spent the first 26 days of her life in hospital in critical condition.

Propionic Acidemia (PA) is a rare genetic metabolic disorder caused by the lack of an important enzyme called propionyl‑CoA carboxylase. This enzyme helps the body break down certain proteins and fats. When it doesn’t work properly, harmful acids build up in the bloodstream and can make a person very sick.

In Antonella’s case, her liver is missing the enzyme needed to safely process protein. When she eats more protein than her body can handle—or when she becomes sick or stressed—those proteins turn into toxic substances. One of the most dangerous is ammonia, which can rise quickly and overwhelm her system.

When this happens, Antonella can go into a metabolic crisis, a medical emergency that may cause vomiting, breathing difficulties, abnormal movements, seizures, brain swelling, stroke, or even coma.

Antonella is significantly behind other kids of her age both physically and cognitively. She requires support 24 hours a day. This support is provided mostly by her mum, Paula and, her Dad, Diego, finding it extremely difficult to find care options due to Antonella’s high support needs. She is physically carried or held over the day as she cannot support herself in sitting positions.

Her parents are making every effort to obtain the best therapies to improve Antonella’s quality of life. Early intervention is key to giving her every chance possible. She spent her weeks attending multiple therapies, including Physiotherapy, Occupational Therapy, Speech Therapy, etc., plus medical appointments.

Additionally, Antonella has completed intensive therapy at the NAPA centre which was three hours of daily therapy for three weeks. They travelled long distances every single day but, her parents did everything they could to help her beautiful angel. After these intensive therapies, she made amazing improvements in her movements and her head control.

Metabolic episodes can be triggered by:

• Eating too much protein

• Illnesses or infections

• Physical stress, such as surgery

This is why her diet, medical care, and monitoring are so important—every detail helps protect her from these dangerous spikes and keeps her safe.

When Antonella was five months old, she suffered a significant brain injury. She was admitted to the hospital after becoming unusually floppy and showing abnormal eye movements. An MRI later revealed changes in the basal ganglia—the part of the brain that helps control movement. Because of this injury, Antonella’s whole body is affected, and she now struggles to control her head, trunk, and overall muscle tone.

As a result of her brain injury, Antonella received a new diagnosis: dystonic cerebral palsy. This means she experiences dystonia, a movement disorder that causes involuntary muscle contractions. Because of this, Antonella cannot fully control her movements—especially in her arms and legs—which makes everyday motor tasks much more challenging for her.

For Antonella’s Tomorrow

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Documentation

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