The youngest of three siblings, Joseph, 3, Melbourne, had led a happy, healthy and active life until being diagnosed with the potentially life-threatening ultra-rare blood disease, atypical haemolytic uraemic syndrome (aHUS) in August, 2015.
When his mother Sarah, 41, picked up Joseph from kindy on August 5, 2015, he appeared unwell, so she put him to bed.
After developing a raging temperature that night, Sarah promptly took her son to the GP the following morning, where he was diagnosed with pneumonia and prescribed a course of antibiotics. Returning home from the GP around 10:30am, Sarah placed a pull-up nappy on Joseph and put him to bed. Five hours later, he woke up, extremely lethargic, with a listless and puffy complexion. Sarah removed his nappy to discover what appeared to be blood in his urine. Sarah immediately contacted her GP and was advised to observe Joseph overnight. The following morning, Sarah once again discovered blood in her son’s nappy.
After rushing to the doctor and then checking into hospital, Joseph’s kidneys went into distress, as his blood count began to drop. Several days and many tests later, Joseph was diagnosed with aHUS.
This is their story.
“Joseph is the youngest of my three children, and had always been a robust, happy little boy,” said Sarah.
“However, on August 5, 2015, after returning home from kindy, Joseph wasn’t quite himself, and soon went to bed.”
During the night Joseph woke-up with a high temperature, which prompted Sarah to promptly administer Children’s Panadol. Joseph soon fell back to sleep.
However, the following morning his temperature was still very high, so Sarah took her son to their family GP.
“My mum was visiting from New Zealand to help my husband, Steve and I out with the kids,” Sarah said.
“I was due to have sinus surgery that Friday, and given Joseph was sick, thought I would take him to the doctor before my surgery.”
After visiting the GP on the Thursday morning where Joseph was diagnosed with pneumonia and administered a course of antibiotics, Sarah returned home, suspecting he may have developed something more sinister.
“When we arrived home from hospital at 10:30am, Joseph wanted to go to bed, which was very much out of character, because he usually falls asleep on the couch,” said Sarah.
“So I put a Pull Up [nappy] on him and put him to bed.
“When he work up five hours later, I removed his Pull Up off and saw something that looked like blood in his urine. I called the GP immediately,” Sarah said.
The GP advised Sarah to continue to administer the antibiotics and monitor him overnight, suspecting what was lining Joseph’s nappy may have been highly concentrated urine.
Throughout the night, Joseph became increasingly thirsty and started vomiting. The following morning, Friday, August 7, 2015, Sarah found more blood in her son’s nappy.
Due to undergo sinus surgery that day, Sarah fielded a call from her family GP at 7:30am, checking on her son, and asked her to come in to see him.
Sarah’s husband, Steve, dropped her to a local hospital to undergo surgery, and took Joseph to the GP.
While being prepped for surgery, Sarah received a call from Steve, advising their GP had organised for Joseph’s admission to Cabrini Hospital for blood tests.
Sarah went into surgery. She later woke up, horrified to learn from her surgeon, that Joseph was being transported by ambulance to Monash Children’s Hospital, because his blood tests had confirmed a diagnosis of Haemolytic Uraemic Syndrome (HUS).
“At that point, I had no idea what HUS was,” said Sarah.
“After being released from The Avenue Hospital the following morning, I headed straight to Monash Children’s Hospital to see Joseph.”
After arriving at hospital, Sarah was greeted by Joseph’s team of Nephrologists, who explained the disease, HUS, and informed her they were looking for signs of the bacterial infection, E. coli, which can lead to HUS, to identify the cause of Joseph’s sickness. Meanwhile, with Joseph’s health quickly deteriorating and little sign of the presence of E. coli, he was prepped for surgery and treated with plasma exchange and red blood cell therapies, due to his plummeting cell count and kidneys in distress.
“Looking at the numbers, and a lack of E. coli, the doctors determined Joseph was in fact, living with atypical HUS (aHUS),” said Sarah.
“The doctors had the foresight to contact the manufacturer of the life-saving aHUS treatment, Soliris (eculizumab) on the Friday evening after Joseph’s arrival at Monash Children’s Hospital, suspecting his HUS may in fact be, aHUS.
“The following Friday, Joseph was administered his first dose of Soliris, only 10 days after the first signs of the devastating disease,” Sarah said.
“Joseph had to get all of his immunisations up to date in hospital before receiving his first dose of Soliris.
“It’s amazing how quickly the medication [Soliris] worked. His numbers started improving immediately after his first dose,” said Sarah.
Although Joseph’s diagnosis of aHUS has rocked his and his family’s world, they are all extremely thankful for relocating from New Zealand (where Soliris is not government-funded) to Australia, 11 years ago, to allow Joseph, an Australian resident, to access the treatment.
Furthermore, Sarah and Steve have expressed their eternal gratitude to members and supporters of the aHUS Patient Support Group Australia (aPSGA), who have collectively, worked so hard to lobby the government, to secure subsidised access to Soliris for those who meet the strict criteria.
“In many ways, Joseph’s story is a happy one. His diagnosis was quick, and he was granted rapid access to Soliris, which has allowed him to be free from dialysis and to return to kindy.
“If you didn’t know he had aHUS, you wouldn’t think he was sick,” said Sarah.
“A little while ago, we didn’t know what aHUS was. Now we’re so thankful to everyone who has worked so hard to lobby for access to this treatment.
“For anyone living with aHUS requiring access to Soliris, it is vital that they are granted supply of the life-saving treatment. It’s a wonder treatment that has saved Joseph’s organs, and ultimately, his life,” Sarah said.
Echoing the sentiment of her fellow aPSGA members, Sarah is urging the Federal Health Minister to allow the treating physicians to determine whether or not their patients require access to Soliris, rather than the recently appointed, undisclosed representatives of the Federal Government’s ‘Expert Reference Group’ (ERG).
“Only the treating physicians should detemine whether their patients need access to Soliris. The doctors understand their patient’s medical history and potential for recovery, and are best positioned to determine whether their patients require ongoing access to this miracle treatment,” said Sarah.