In the first five weeks of his life, Harrison Draper went from being a healthy, pink-skinned newborn to a sick child who left doctors stumped.
He stopped gaining weight and developed a painful abscess on his bottom that wouldn’t heal.
“The doctors kept saying, ‘It’s OK, it happens,' ” his mother Tracey Brown, from Orange, said. “But I kept telling them, ‘Stop saying that, my gut is screaming at me that something’s wrong’, but he didn’t have other symptoms.”
At 11 weeks, Harrison was struck down by a double blow of meningitis and pneumonia. His doctors, confused, conducted “invasive” tests and ordered the pivotal blood test that provided the answer: Harrison had severe combined immunodeficiency (SCID) which meant he had virtually no immune protection from bacteria and viruses.
“What saddens me is that if they had found out sooner, his prognosis would've been incredibly different, they could’ve cured it,” she said of Harrison, who will turn 11 in four days.
“He has damage because he got so sick before he was diagnosed; he has neurological damage, hearing loss, an intellectual delay, things that will affect the rest of his life.”
Doctors are calling for newborn screening to be expanded to include testing for severe forms of primary immunodeficiency diseases, in particular SCID, which, if detected early enough, can be cured by a bone marrow or stem cell transplant.
SCID, commonly known as the “bubble boy” disease, is a severe and life-threatening disease that affects one in 58,000 births internationally.
At the Royal College of Pathologists of Australasia’s annual conference Pathology Update on Friday, paediatric immunologist Dr Jovanka King said testing for SCID would significantly improve or even save the lives of affected children.
“The problem is affected babies first appear to be healthy and it’s not until they develop lots of infections that they’re diagnosed and by then there have been lots of complications,” she said.
“If we can do the transplant before they’re 3½ months, they fare a lot better in terms of survival and have fewer long-term complications.”
At present, newborn babies are screened for SCID in New Zealand, most states in the US and many countries throughout Europe, the Middle East and Asia.
Dr King, in collaboration with several children’s hospitals, is conducting a cost-benefit analysis, which she expects to complete by the end of the year.
“Economic analyses performed in other countries have demonstrated it is more cost effective to screen newborns for SCID than it is to manage a critically unwell child in whom diagnosis and treatment was delayed,” she said.
Dr Melanie Wong, a paediatric immunologist at Westmead Children's Hospital, said her hospital saw about one case a year, but it was one too many.
She said some newborns were screened for SCID based on family history. Babies diagnosed early have a 90 per cent survival rate, compared to those diagnosed late, who have a 40 per cent survival rate.
“Some come at two to three months with devastating infections and need intensive care and ventilation and there are ones who present at six to eight months because of their failure to thrive,” she said.
“Then there are a few who have more insidious presentations and, when you go to transplant, they’ve picked up a whole lot of viruses and that makes it more difficult to do a transplant.”
Christine Jeffery, from the Immune Deficiencies Foundation, which counts 14 surviving SCID patients as members, strongly supported the call, saying most forms of primary immunodeficiency had no cure, but SCID did.
“SCID fulfils all the internationally recognised criteria for a clinical condition to be screened for at birth through newborn screening using the standard Guthrie [dried blood spot] sample,” its position statement reads.
On their way to a surgery at Westmead Children’s Hospital, Ms Brown said all newborns should be screened for SCID.
Harrison has had several bone marrow transplants – at four months, 18 months and eight years – as well as chemotherapy.
“For us, my daughter Ella is the perfect match, so we were extremely lucky to find a match so quickly,” she said.
“There are kids overseas who are diagnosed at birth but have the transplant three months later because they couldn’t find a donor match.”
The federal Health Department said it was up to each of the states and territories to determine which conditions would be screened for by their program.