Gift of love: One-in-a-million baby gets stem cells from Dad
Tim Grant has given the gift of life to his baby daughter Isabelle - twice.
Eight-month-old Isabelle, who was born with a severe immune deficiency so rare she's described as "one in a million", could have died before her first birthday without a stem cell transplant.
But after receiving her father's stem cells on March 11 at the Queensland Children's Hospital, doctors are hopeful Isabelle will live a long life.
Her immunologist Jane Peake described Isabelle's outcome as "amazing", due to advances in medical science that allow children to receive stem cell transplants from their parents, who are only a 50 per cent match.
"It's one of the miracles of modern medicine," Associate Professor Peake said.
"It's such a pleasure and a joy to be able to help little children like her to now live what we would presume and hope will be a normal life, a long life."
Isabelle was diagnosed with an extremely rare type of severe combined immunodeficiency, known as adenosine deaminase deficiency, or ADA SCID, just before Christmas.
Prof Peake said the last known case of ADA SCID in Queensland was more than 20 years ago and the last diagnosis she could find in Australia was in 2014.
Within hours of arriving at the Queensland Children's Hospital on December 19, Isabelle stopped breathing and had to be revived.
"The infection that she had in her lungs at the time could have killed her," Prof Peake said.
Because of her ADA SCID, she lacked an enzyme found in a type of white blood cell, known as lymphocytes, an important part of the immune system that help protect the body from infections.
The enzyme deficiency results in an accumulation of toxins, which poisoned her lymphocytes, caused developmental delay, damaged her lungs and resulted in her developing moderately severe hearing loss.
Isabelle spent five weeks in a positive pressure room inside the Queensland Children's Hospital intensive care unit.
Doctors ordered a specialised enzyme replacement therapy, a bridging treatment, from Germany as she lay in the ICU, hooked up to machines helping her to breathe.
In mid-January, she began receiving injections of the synthetic enzyme, specially engineered for patients with ADA-SCID, to prepare her body for the stem cell transplant.
"It allowed us to detoxify her," Prof Peake said. "Her hearing loss is likely to be permanent but she received the enzyme treatment early enough for damage to her other cells to be reversed."
As Isabelle's tiny body began to respond to the enzymes, her Mum Louise tearfully recalls hearing her baby's cry again after weeks in ICU.
"It was that moment that you realised that she hadn't cried for four weeks because she was so focused on breathing that she couldn't cry," Mrs Grant said.
The Grants also have an older daughter, Bridget, almost three, who has had to be pulled out of daycare to protect her younger sister from infections as the stem cell transplant takes hold.
"Bridget kept asking us when we could bring Isabelle home and she would look after her," Mrs Grant said. "She didn't quite understand."
Isabelle was allowed home just before Easter. She's already been fitted with tiny hearing aids.
"Everything at the moment looks quite positive that she'll come through this and live a relatively normal life," Mrs Grant said.
"The last four months have been mind-blowing with what medicine can do these days."
Prof Peake said she left Queensland in the 1990s to study paediatric immunology in the United Kingdom, France and Canada.
"Using the father's cells and having such a quick and good outcome would have been basically unheard of at that time," she said.
While the Grants have been thankful about having the "right team" at the Queensland Children's Hospital treating Isabelle, they believe SCID should be tested for as part of newborn screening in Queensland as it is in New Zealand and the US.
"I can't see why we can't have it in Queensland with the medical facilities we've got," Mrs Grant said.
"If it had been picked up when Isabelle was born, she might still have her hearing and she wouldn't have got as sick as she did.
"Isabelle was critically ill from four to six months of age. As a result, she's never learnt to rollover, she hasn't learnt to crawl, she can sit up by herself but she's only just learnt to do that. She won't take a bottle, she doesn't know how to feed orally. She's still tube fed. All of that basic baby stuff with her development got delayed because she was so sick.
"I wonder in another life, if it had been screened and picked up, how things might have been different."
Originally published as Gift of love: One-in-a-million baby gets stem cells from Dad