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When Brisbane parents Louise and Tim Grant took their tiny, newborn baby Isabelle home from the hospital in August 2020, they had no idea her life was in danger.
"We had her out in the world and we were doing things that you do with a newborn," Ms Grant told 9news.com.au.
"We had my sister's wedding and we had our daughter christened. And looking back, those events make me nervous now. But at the time, we didn't know any different."
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Unbeknownst to her parents, any of those outings could have made Isabelle perilously sick.
That is because Isabelle was born without a functioning immune system.
She has an extremely rare type of severe combined immunodeficiency, known as adenosine deaminase deficiency, or ADA SCID.
The first sign something was wrong was five days before Christmas when Isabelle was 18 weeks old, Ms Grant said.
"All of a sudden she started vomiting and started to get quite lethargic. We thought 'this is a bit strange'."
Luckily, Isabelle had already an appointment with her GP, which is where Ms Grant voiced her concerns.
"I said, 'she's going purple around her mouth' and her hands and feet were purple," she said.
"We didn't know it then but essentially her body was stopping breathing. She couldn't breathe properly."
At the GP's advice, Ms Grant took Isabelle straight to the Queensland Children's Hospital.
"We were waiting in the emergency department and that's when a doctor walked around the corner and saw Isabelle and went, 'Oh my gosh, look at the colour of that child.'"
"They then worked very quickly to help her to start breathing again properly."
Before Isabelle, there had not been a baby diagnosed in Queensland with ADA SCID for 20 years.
Luck was in her favour, however, when Isabelle just happened to be seen by a paediatric doctor who noticed her low white blood cell count and had recently read a report on SCID.
Tests confirmed the one-in-a-million diagnosis, and Isabelle became a "bubble baby".
Isabelle was immediately isolated in a positive pressure room, and spent 33 days in paediatric ICU recovering from the severe lung infection she had developed.
A stem cell transplant from her donor dad has been deemed a success and Isabelle now has a chance of developing a normal, healthy immune system.
However, Ms Grant said Isabelle had been left with some permanent disabilities, such as hearing loss and developmental delays, which she would not have had to deal with if her condition had been diagnosed at birth.
Ms Grant is one of many parents and advocates calling for SCID and other immunodeficiencies to be included nationwide in the newborn bloodspot or "heel prick" screening test routinely carried out in hospitals.
Newborns are tested for SCID in the US, some parts of Europe and New Zealand.
Currently, SCID is only tested for in newborns in NSW as part of a trial program.
"If Isabelle had been screened at birth, she would still have her hearing. When she was born, she was screened under hearing screening that they do and she had perfectly normal hearing," Ms Grant said.
"Now she has severe hearing loss and will need hearing aids and Auslan for the rest of her life.
"She's now at increased risk of particular skin cancers because her skin cells may have been affected by the toxin, she's got developmental delays, possible neurological delays, all because this toxin was able to accumulate was not treated when she was born – and it could have been.
"It's very hard as a mother to know that."
Without treatment, babies with SCID are not expected to live past the age of two.
Ms Grant said adding SCID to the newborn screening test would save lives.
Estimates by patient advocacy group Better Access Australia have showed it would cost just $10 extra per baby to add dozens of other conditions to the 25 currently tested for in Queensland and 28 in NSW.
Newborn screening has become an election issue with the ALP promising to expand the program nationally to include tests for 80 conditions, including SCID.
9news.com.au has contacted Federal Health Minister Greg Hunt for comment.
The Australasian Society for Clinical Allergy and Immunology is calling for the inclusion of SCID in newborn screening.
Dr Melanie Wong, the head of Allergy and Immunology at Sydney Children's Hospital Network, said screening for SCID was vital to give all babies born with the condition a chance at life.
"Due to their rarity, delays in diagnosis of primary immunodeficiencies (PIDs) are common.
"For infants and very young children with severe PIDs, this leads to severe complications due to recurrent infections and early death, despite being curable if treated in the first few months of life," Dr Wong said.
"SCID is fatal in the first two years of life without definitive intervention. Early diagnosis is vital to allow curative treatment such as urgent haematopoietic stem cell transplantation (HSCT), also known as bone marrow transplant (BMT)," Dr Theresa Cole, ASCIA President-Elect and ASCIA Immunodeficiency Committee Chair, said.
"Screening is also likely to be more cost-effective for the health system than the cost of prolonged hospital and intensive care unit admissions. It should be a health priority in Australia."
Contact reporter Emily McPherson at emcpherson@nine.com.au
Source: 9News
