A lot of people have been asking how Sophia is doing or about her condition...
Everyone always has lots of questions about things which is totally cool too...
she’s so lucky to have so many people that care so much about her already and are genuinely interested in her condition and if she’s going to get better... 💞
So in saying all that I thought I would write a little blurb on Sophia’s condition to help you understand it a little more...
Sophia has been born with a very rare metabolic genetic disorder called
🧬 “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.
We also have the option for a liver transplant when she reaches 10kgs to help her be able to live a semi normal life but of course still comes with risks.
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. 🦋💫
Happy to answer any questions if you have any more 💖
#Sophiathebrave
