It took 18 years for Isabella Madry to get a diagnosis for her rare condition - only to discover the median life span for sufferers was just 27.
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Yet the now 19-year-old Balgownie woman is focused on living each day to its fullest, while her team of specialists keep a close eye on her progress.
She's one of just a handful of Australians with Bloom Syndrome - there's less than 300 known cases worldwide.
It's a rare genetic disorder characterised by short stature, increased skin sensitivity to ultraviolet rays from the sun and most importantly, an increased risk of multiple early onset cancers.
Yet we try not to think about what Izzy's life will be like; Izzy just lives life to the fullest each day and we hope and pray she will remain well.
Fortunately Izzy is part of a SMOC (surveillance of multiple organ prone cancers) trial at Prince of Wale's Hospital's hereditary cancer centre - and is currently cancer-free.
Ahead of World Rare Disease Day on Saturday, the young woman - and her loving parents Jodie and John and sister Angelique - wanted to share their story to raise awareness.
"One of the biggest shocks for us after the diagnosis, was the median life span being just 27," Mrs Madry said.
"Then we discovered that of the 277 people in the Bloom Syndrome Registry, one-third had developed cancer by the age of 25, and 80 per cent by age 40.
"Through a support group, we've talked to people who've lost their children at a young age; and to a person in their 40s who's been diagnosed with 10 primary cancers.
"Yet we try not to think about what Izzy's life will be like; Izzy just lives life to the fullest each day and we hope and pray she will remain well."
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One of Izzy's dreams is to get to the Stepping Forward 2020 Bloom Syndrome Conference in Chicago in August, with her mum by her side.
There the pair will meet specialists and hear about recent research, and importantly, meet with other patients and families travelling the same path.
For the Illawarra family, it's a journey that started in 2000.
"Izzy was born in August 2000 with intrauterine growth retardation, weighing just 2kg and measuring 45cm long," Mrs Madry said.
"Due to her slow growth she was admitted to Westmead children's hospital at 10 weeks old for a few weeks, but didn't gain any significant weight and they decided she was just petite and they would monitor her.
"At age three she was put on growth hormone for 11 years, to ensure she not only gained enough weight but that her organs grew well too."
The growth hormone was a success; Izzy reached 146cm, yet over the years she suffered from a range of gastrointestinal issues and infections.
In 2018, the family pushed for extensive genetic testing and in April 2019 she received her diagnosis.
She's monitored by 11 specialists, has ongoing scans and medical appointments, yet she also fits a range of interests and hobbies into her life.
She attends an employment support program with The Disability Trust; and is studying Certificate III in Early Childhood Education and Care through TAFE online.
"She's the most gentle and gorgeous person," Mrs Madry said. "She has a mild learning disability but she's very gifted artistically.
"We are so proud of our precious girl, she always strives to do her best and we want to assist her to 'step forward' with this diagnosis, being thankful for each day God gives her."
The family has set up an online fundraiser to get Izzy to the US conference. Search for Izzy Madry on the gofundme.com site to help her reach her goal.
