Sophia the brave 💜

Little Sophia was born on the 30th of April 2020. Parents, Brooke and Jerry are absolutely besotted with their little princess.

Unfortunately little Sophia started experiencing some difficulty breathing at 3days old - and was rushed through to Starship hospital PICU - Little did they know she was having a metabolic crisis and within 24 hours she was diagnosed with an extremely rare metabolic disorder known as

🧬 Propionic acidemia or PA 🧬

Propionic acidemia means that Sophia’s body is unable to break down amino acids properly she is missing a certain enzyme in her liver that metabolises protein which means if she consumes to much protein it turns into toxins.

This toxic acid is called Ammonia.

This is what makes her condition very dangerous. As the damage ammonia does to your body is permanent and irreversible.

Her body will go into a metabolic crisis (episodes): It can cause vomiting, breathing problems, abnormal movements, seizures, swelling on the brain, stroke and coma.

Metabolic crisis (episodes) can be caused from:

* Eating large amounts of protein

* Illness or infections

* Going to long without food

* Stressful events like surgery’s

Every time Sophia has an episode she has risk of it affecting her these can include:

* learning disabilities

* Delays in walking or motor skills

* Abnormal movements

* Poor growth

* Seizures

* Death

So it is very important that when Sophia does get sick or has an episode that she is taken straight to hospital for treatment as it’s a very serious condition in which the hospitals don’t treat lightly.

Sophia is very lucky to have a massive team behind her helping her along the way with her growth and to keep her well.. she has her own doctor, nurses, dieticians, Speech language therapist, Occupational therapist and Physio’s.

PA is a very rare disorder with roughly 1 baby every 4years being born with this condition in the world...

on top of that - 30% of children with PA don’t live past the age of 4 and 80% not past 18years old.

We still have a long road ahead of us and there is a lot of gene therapy being tested currently overseas in the US but is currently another 5years away.

Sophia is now on the list and waiting for a liver transplant.

Sophia’s life will never be “normal” and she will forever have to be monitored closely and be on a strict feeding plan.

But right now all our plan is, is to enjoy each moment and day we have with her, take each day as it comes and just hope and pray for the best for her as we don’t know how long she is going to be with us. 🦋 💫

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