Shockingly, even though Severe Combined Immunodeficiency (SCID) is a rare life-threatening immune disease that can cause death, it is currently not included in Queensland’s newborn screening test.

The purpose of the newborn screening test is to help to identify rare but serious conditions, to assist in getting early treatment.

We are asking for an urgent review. 

SCIDs needs to be included in the Queensland newborn screening check.

Our baby, Georgia Hilliar, was born in Brisbane with undetected SCID – Omens syndrome, this year on the 12th January.

Our journey to diagnosis was horrific.

We nearly lost our newborn daughter on multiple occasions. Georgia had apneas that ended her in PICU at Queensland Children’s Hospital. We endured weeks of heartache. In and out of hospital not knowing what was wrong. Georgia had no ability to fight off infections, so they turned life threatening. Our newborn experienced severe infections that turned septic, a horrendous all over body rash (see attached photos) and simply failed to thrive.

Our baby was finally diagnosed with this rare genetic disorder, after eight long weeks. She was kept in a positive pressure room to keep her safe from infections, before undergoing a bone marrow transplant at Queensland Children’s Hospital, which saved her life.

We were told without treatment, infants with undetected SCID usually die from infections within the first year of life.

For Georgia and many other SCID’s babies, it was a long hard process to be diagnosed. It takes for the baby to be in a very serious condition, before further testing is completed and they get the help they need.

Queensland’s current newborn screening test failed Georgia.

Georgia’s condition was missed. With this simple newborn screening test, doctors can check for this rare genetic condition that can cause serious health problems and untreated, death.

The UK Health Minister, and New Zealand Health Minister know the importance for including SCID in their newborn screening. It’s time we join with the UK and NZ and do this too.

Pre-symptomatic identification and treatment would improve survival for all infants born with SCID. With an early bone marrow transplant, frequent follow-up and prompt treatment for infections, survival rates are very good.

It’s time to add SCID to Queensland’s newborn screening check.