Doctor's 'ultra-rare' find after Aussie toddler's 'teething' issue
Henry, who is also profoundly deaf, was rushed to hospital after he suddenly fell ill over the Easter weekend.
“Is there a reduced life expectancy?” Melissa Norton asked a doctor while sitting in her eight-month-old son’s sterile hospital room in Melbourne.
For two weeks the 32-year-old mum had been holding Henry’s hand as a team of physicians worked to save his young body after it spiralled into kidney failure.
“It was the hardest question I’ve ever had to ask in my life,” she told Yahoo News Australia on Wednesday. “It was really overwhelming. He’s so small and I was really scared and I thought the worst. He was so unwell, so sick and it just escalated so quickly.”
Mum thought toddler was dehydrated from teething
The family’s terrifying ordeal began at their farm near the NSW and Victoria border over the Easter weekend. Ms Norton — who also shares two-year-old Lachlan with her husband Craig, 36 — noticed Henry had been unwell for a few days but thought he was just dehydrated from teething.
However when he became “very pale”, refused to eat and produced “really dark brown” nappies, the mum became increasingly concerned and rushed him to a nearby hospital.
Ms Norton said staff checked his blood pressure but didn’t perform any blood tests, and when they saw Henry drinking half a bottle of milk, they sent the pair home and told them to come back if his health got worse.
“When we were leaving the triage nurse said ‘are you going home? Make sure you bring him back if you need, he’s very pale’,” the mum recalled. “The next day was Easter Monday and we woke up and he still wasn’t drinking anything, nothing had changed, and he was still vomiting.”
Doctor picks up on 'ultra-rare' disease
Determined to find out what was wrong, the 32-year-old went back to the hospital, where she claims staff deemed Henry a “failed discharge” and booked them in to see a paediatrician, who immediately noticed the toddler was anaemic.
But the mum of two’s initial relief was cut short when the doctor said she also believed the eight-month-old, who is also profoundly deaf due to a genetic syndrome, could have atypical haemolytic uremic syndrome (aHUS) — an “ultra-rare” disease that effects the immune system, causing his body to attack its own cells.
With his kidneys going into failure and his body aggressively swelling, the mum and son were picked up by the Royal Children’s Hospital Melbourne’s Paediatric Infant Perinatal Emergency Retrieval (PIPER) team and flown south for treatment.
“The Intensive Care Unit was an eye-opening experience. They were incredible but standing around in a room and there’s 14 people working on your eight-month-old son — it’s very confronting,” she said, praising them for saving the life of her youngest child.
Syndrome triggered by common cold
It was at the hospital where Henry’s aHUS diagnosis was confirmed. “It’s insane. It’s affects one in 5 million people,” Ms Norton said, revealing it had been triggered by a common cold. “When he got the cold his good blood cells were fought off by his bad ones” ultimately causing damage to his kidneys.
According to the National Renal Complement Therapeutics Centre, the syndrome can lead to clots forming within the small vessels. “The most commonly affected organ is the kidney but all organs can be affected,” the website reads. “Left untreated it can be a life-threatening illness and the majority of people would develop end stage kidney failure.”
Henry’s condition has improved after being placed on an immunosuppressive therapy, Ms Norton said, but he will require two-hour infusions every fortnight for the rest of his life. “He needs to continue the meds so the kidneys continue to function — if he was to get sick with a cold or gastro, we would end up back in hospital,” she explained.
While the mum has been forced to give up work so she can care for her son and make the frequent trips to the Melbourne hospital, and three to four weekly appointments for check-ups and blood tests. The family have created a GoFundMe to help pay the bills while they focus on “the long road ahead”.
But on a happy note, doctors have assured the worried mum that with medication, Henry should be perfectly able to live a typical, long life.
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