How a $10 test could have helped ‘bubble’ baby Isabelle

When Brisbane Parents Louise and Tim Grant brought their little newborn baby girl Isabelle home from the hospital in August 2020, they had no idea her life was in danger.

“We had her 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 baptized our daughter. And looking back, those events make me nervous now. But at the time, we didn’t know any different.”

A ‘bubble’ baby, Isabelle spent 33 days in isolation in a positive pressure ward at Queensland Children’s Hospital. (Supplied: Louise Grant)

Unbeknownst to her parents, any one of those outings could have made Isabelle seriously ill.

That’s 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 that something was wrong was five days before Christmas, when Isabelle was 18 weeks old, Grant said.

“All of a sudden, she started throwing up and started feeling quite lethargic. We thought ‘this is a little weird’.”

Fortunately, Isabelle already had an appointment with her GP, which is where Ms Grant voiced her concerns.

“I said, ‘It’s getting purple around the mouth,’ and her hands and feet were purple,” he said.

“We didn’t know it then, but his body was essentially stopping breathing. He couldn’t breathe properly.”

Mom Louise Grant with Isabelle at the hospital.
Mom Louise Grant with Isabelle at the hospital. (Supplied: Louise Grant)

Following the GP’s advice, Mrs Grant took Isabelle straight to Queensland Children’s Hospital.

“We were waiting in the emergency department and that’s when a doctor came around the corner and saw Isabelle and said, ‘Oh my gosh, look at the color on that little girl.'”

“Then they worked very quickly to help her start breathing properly.”

Before Isabelle, there had not been a Queensland baby diagnosed with ADA SCID for 20 years.

Luck was on her side, however, when Isabelle was seen by a pediatrician who noted 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 ward and spent 33 days in the pediatric ICU recovering from the severe lung infection she had developed.

A stem cell transplant from her donor father was deemed a success and Isabelle now has a chance to develop a normal, healthy immune system.

However, Ms Grant said that Isabelle was left with some permanent disabilities, such as hearing loss and developmental delays, that she would not have had to deal with if her condition had been diagnosed at birth.

Isabelle was diagnosed with SCID at 18 weeks of age.
Isabelle was diagnosed with SCID at 18 weeks of age. (Supplied: Louise Grant)

Ms. Grant is one of many parents and advocates calling for SCID and other immunodeficiencies to be included nationwide in the newborn blood screening or “heel prick” screening that is performed routinely. routine in hospitals.

Newborns are screened for SCID in the US, some parts of Europe, and New Zealand.

SCID is currently only tested on newborns in NSW as part of a testing programme.

“If Isabelle had been tested at birth, she would still have her hearing. When she was born, she had the hearing test they do and she had perfectly normal hearing,” said Ms Grant.

“He now has severe hearing loss and will need hearing aids and Auslan for the rest of his life.

Tim Grant became a stem cell donor for his daughter Isabelle.
Tim Grant became a stem cell donor for his daughter Isabelle. (Supplied: Louise Grant)

“She is now at increased risk for particular skin cancers because her skin cells may have been affected by the toxin, she has developmental delays, possible neurological delays, all because this toxin was able to build up and was not treated when she was born, and could has been.

“It’s very difficult as a mother to know that.”

Without treatment, babies with SCID are not expected to live more than two years.

Ms. Grant said adding SCID to newborn screening would save lives.

Estimates from patient advocacy group Better Access Australia have shown it would cost just an extra $10 per baby to add dozens of other conditions to the 25 currently tested in Queensland and 28 in NSW.

Neonatal screening has become an electoral issue with promising ALP expand the program nationwide to include testing for 80 conditions, including SCID.

9news.com.au has contacted the Federal Minister for Health, 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, Head of Allergy and Immunology at Sydney Children’s Hospital Network, said screening for SCID was vital to giving all babies born with the condition a chance at life.

Isabelle Grant, in the photo with a necklace that has a very special meaning.  Each bead represents an important treatment she has undergone in her short life.  There are 160 beads in the necklace.
Isabelle Grant, in the photo with a necklace that has a very special meaning. Each bead represents an important treatment she has undergone in her short life. There are 160 beads in the necklace. (Supplied: Louise Grant)

“Due to their rarity, delays in the diagnosis of primary immunodeficiencies (PIDs) are common.

“For infants and very young children with severe PIDs, this leads to serious complications due to recurrent infections and premature death, even though it is curable if treated in the first few months of life,” said Dr. Wong.

“SCID is fatal in the first two years of life without definitive intervention. Early diagnosis is vital to allow curative treatment such as urgent hematopoietic stem cell transplantation (HSCT), also known as bone marrow transplantation (BMT)” Dr. Theresa Cole, ASCIA President-elect and Chair of the ASCIA Committee on Immunodeficiency, said.

“Screening is also likely to be more cost-effective for the health system than the cost of prolonged hospital stays and intensive care unit admissions. It should be a health priority in Australia.”

Contact reporter Emily McPherson at emcpherson@nine.com.au

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