| Published date | 21 April 2024 |
| Publication title | Herald on Sunday |
The Invercargill 8-year-old was born with a condition so rare that just a few hundred cases have ever been reported globally.
Currarino syndrome — which has an estimated prevalence of one in 100,000 — involves spinal defects that left him missing vertebrae and a tailbone.
It’s meant plenty of time in hospitals, including urgent surgery to untether his spine when he was 6 months old, and a life of severe bowel problems.
For an hour, each day after school, Robert needs to flush fluid directly into his colon and takes medications that also help prevent blockages.
It’s a life few of us could comprehend, but Louise says her brave boy doesn’t know any other way.
“He knows he has something incredibly rare, and he thinks that is pretty special.”
Had it not been for the earlier loss of his brother, Jackson, from complications with the same syndrome, and the efforts of their paediatrician, who suggested the cause, it may have taken months or years before the family knew what they were up against.
“He would have been passed off as a child with chronic constipation and possibly gone on to have some life-threatening infections, with no idea why.”
Recently, after eight years, Robert at last got a molecular diagnosis that confirmed the syndrome.
It didn’t come from scientists at some sprawling research institute in California or Germany, but a small team at Otago University, just a few hours up the road.
“We found it,” Professor Stephen Robertson told Louise over the phone.
The Kiwi team
Most of us have likely never heard of Currarino syndrome, reflex sympathetic dystrophy, macrophagic myofasciitis or facio-oculo-acoustico-renal syndrome.
Scientists believe there exist between 7000 to 10,000 of these disorders which, while extremely uncommon, collectively touch the lives of several hundred million people worldwide.
The vast bulk of them, including Currarino, remain without approved drug treatments.
Around three-quarters are genetic, so they can be present throughout a person’s life even if their symptoms don’t appear straight away.
But, as with Robert, a large number do, and about half the people known to be affected by them are children.
These unique patients are a focus of Robertson, a world-renowned researcher, and his team of DNA detectives at Otago’s Laboratory for Genomic Medicine.
Their job is to hunt out the hidden causes of single-gene disorders which, as you’d expect, couldn’t be more complex.
Within the genetic jigsaw that makes up each of us are some three billion base pairs of DNA — and it’s within this human haystack that the scientists must find their needle.
Proving they’ve got their causative gene...
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