Article from 2022 Impact of Giving Annual Report

For Archer, the journey to find a medical diagnosis wasn’t an easy one. It took a lengthy medical process, a number of years and numerous tests to finally give him, and his family, an answer. Despite the shock diagnosis, this means Archer now has access to early management of his condition and and will enjoy a better quality of life.

From the time nine year old Archer was born, he was sick on and off, with the root of his issues unknown. By the time he was four, he was a frequent flyer in hospital in his home town of Geelong. Then, later that same year, he received a referral to a paediatrician who found high levels of protein in Archer’s urine.

From there, Archer was transferred to the RCH under the care of paediatric nephrologist, Dr Cathy Quinlan, and enrolled in a genetic sequencing trial at the RCH in the hope of finding some answers. After an involved process lasting several years, it was through this trial that Archer was diagnosed with Alport syndrome.

Alport syndrome is a genetic kidney disease that results in progressive kidney damage and is often associated with hearing loss and problems in the eyes. It is caused by a mutation in one of three genes for a protein called collagen.

Children with this condition are born with normal kidney function, and if they are diagnosed early enough, they can start on a medication which delays the progression of their kidney disease.

As part of the genetic sequencing trial, Archer underwent blood test screening, which ruled out a lot of kidney conditions, but couldn’t definitively give the family any answers. In the years following, Archer then underwent further genetic screening through the Kidney Flagship and a kidney biopsy.

“The first genetic screening occurred in 2018 and Archer was officially diagnosed in 2021, so it was a very long process,” Archer’s mum Kirie said. “In the midst of that, because we couldn’t find an answer, Archer also had to have a kidney biopsy, followed by further genetic sequencing,” she added.

The second genetic screening tests yielded results, confirming Archer’s parents’ worst fears and a diagnosis of Alport syndrome.

“We found a variant in a common gene, but it was difficult to find and required us to go beyond our usual clinical testing strategies, using a process that we call Enhanced Variant Analysis,” Cathy said. “This is why it took us so long to give

Archer a confirmed diagnosis. We learned a lot from his case, and it changed how we assess anyone with a query of Alport syndrome,” she added.

Passionate about ensuring children with kidney conditions get the best possible care, Cathy has been working with the Centre for Health Analytics since 2019. Made possible with funding from the RCH Foundation, the Centre is utilising and analysing health data to improve all aspects of patient care, operations, education and research at the RCH.

One project the Centre is undertaking, which will support patients like Archer, is going through existing hospital data and identifying any patients who have presented at the RCH with blood in their urine – a common early warning sign of Alport syndrome. From here, clinicians have been able to analyse children at risk and offer an appointment with the Kidney Genetics Clinic to see if they have the condition and if so, they can intervene early – something that Kirie is thankful for in their own journey.

“While this outcome isn’t what anyone would want, it was a relief to have an answer, and to be able to intervene early. It’s obviously overwhelming and you don’t want to have these things or give them to your kids but you want to be able to have treatment and give your kids the best possible outcome,” Kirie said.

Cathy reiterates how important early intervention is for patients with Alport syndrome, as treatment can begin sooner and testing can determine who else in the family may be at risk.

“An early diagnosis is vital as it means that the child can get started on the only treatment strategy we have, along with education, setting expectations and reproductive counselling. Starting a safe, once daily, oral medication, delays the onset of kidney failure by 15 years on average. The earlier it’s started, the more effectively it works,” Cathy said.

“Finding these children as early as possible is key to the best outcomes and I’m so grateful to now be able to reach out to at risk families and offer saliva testing to children during a telehealth appointment, which is a much better process than Archer’s experience,” she added.

For Archer and Kirie, the diagnosis has also opened the door for their immediate and extended family to get tested. Kirie is the oldest of eight siblings and Archer is the second eldest of five siblings, who will all eventually undergo genetic testing to see if they are affected.

“The genetic testing has changed rapidly in the years since Archer underwent the initial blood test – it can now be done via saliva. It’s amazing; you don’t even need to see the doctor in hospital, we can do it via telehealth, and you get a definitive answer. People will be spared what we went through – we spent so much of Archer’s life thinking, it might be this or it might be that.”

“We are incredibly grateful to the RCH and to Cathy, as if we didn’t have the testing, we don’t know how much more damage would have been done to Archer’s kidneys,” Kirie said.