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About: Sofia

Sofia Clare, born 3rd February 2015 at 5:03PM after a 15-hour labour. 

Throughout the pregnancy, she was a happy and "healthy" baby. There were plans to be able to take her home the same day as birth if not the day after (depending on time of birth). An hour before she took her first breath, the waters broke and it was then that fear lingered in the room. They feared she would be born with meconium on her lungs. 

As soon as she was born, she was quickly handed to mum before the doctors came to take her away. She was only meant to be taken for an hour but they decided they needed to keep her overnight.

The next morning doctors came and told mum and dad that they had found a defect with her heart and had to rush her over to Grace* in The Children's Hospital at Westmead. It was there they were told she had a CHD (Congenital Heart Defect) called Truncus arteriosus. This was caused by a chromosomal abnormality called Velo Cardio Facial Syndrome /VCFS/ 22q11 deletion syndrome/ DiGeorge Syndrome.

At 10 days old, she underwent her first open heart surgery. What was only meant to take 6 hours grew to 13 hours as they hit complications. This lead to Sofia coming back to us on a heart lung bypass machine.

At 14 days old, she underwent her second open heart surgery.

Sofia spent 22 days on a ventilator without being able to be held. Each day had its ups and downs.

Finally off the ventilator and onto CPAP, Sofia was doing well. At exactly 8 weeks of age, Sofia shared her first smile. Even on lots of medication and in pain with all the tests that had to be done she was able to see the good in her life.

A couple of weeks later she got sick and began a downhill decent. Almost losing her three times in a matter of five days they put Sofia back on ventilator and ran more tests. They found another problem with her heart and feared that she would not make it.

The day of the third operation, mum, dad and family embraced little Sofia and hoped for the best. Seven hours later was the start of Sofia's recovery. She did better than expected. After a couple of days, they took Sofia off the ventilator and put her on CPAP. After a few weeks in PICU and lots of ups and downs, Sofia was well enough to go to the ward.

With quite a bit of time in the ward with lots of "training", she was finally able to go home on the 3rd June 2015.

She still has physiotherapy and feeding clinic and constant doctors check-ups but she is finally getting to start her life as a normal baby. It is still a long road to go with constant surgeries throughout her life as well as any difficulties that may arise from her having a genetic disorder (22Q11 Micro Deletion).

Unfortunately, after complications arising during her fourth open heart surgery, Sofia passed away on the 28th April 2018.

What is 22q11.2 Deletion Syndrome?
22q11.2 Deletion Syndrome is a genetic syndrome. It is the result of a submicroscopic deletion on the long arm of Chromosome 22 in the “q11” region - deletion 22q11.

  • 22q11.2 DS affects approx. 1 in 2000 - 3000 persons making it the second most prevalent genetic syndrome after Down syndrome
  • 22q11.2 DS is the most common genetic syndrome associated with cleft palates
  • 22q11.2 DS is the second most common genetic syndrome associated with congenital heart defects
  • 99% of the 22q11.2 DS population will have a learning difficulty or disability
  • 30% of the 22q11.2 DS population will develop a mental illness. (Nearly half (45%) of the general population (non VCFS/22q11.2DS) in Australia will experience a mental disorder at some stage in their lives.)
  • 22q11.2 DS has more than 180 anomalies associated with it