Like many young women her age, getting her license, buying a car and securing her first job, is cause for celebration for Isabella Madry.
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Even more so for the 20-year-old who is living with a rare disease which has a median life span for sufferers of just 27.
But the Balgownie woman is focused on living each day to its fullest, while her team of specialists keep a close eye on her progress.
"Izzy continues to remain positive and thankful for each day God gives her but is acutely aware of the median age of death of just 27. She is a joy to many people she comes in contact with," her mother Jodie Madry said.
Izzy is 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.
On Sunday, Izzy joined her parents John and Jodie as well as sister Angelique and completed their 10th and final week of 10 kilometre walks for Bloom Syndrome to raise awareness and funds for research.
The first walk was held on Rare Disease Day (February 28).
Mrs Madry said the over $500 raised from the first eight walks were directed to the Bloom Syndrome Association in the USA.
"A fundraising page through Garvan Institute of Medical Research in Australia is where we plan to direct our last two weeks of funds raised," she said.
"Garvan are the main researchers in Izzy's SMOC+ Trial (Surveillance of Multiple Organ Cancers).
"She will have her yearly Whole Body MRI this month which aims to detect cancer at an early stage as she has an extremely high risk to cancer, amongst 15 other medical complications that are monitored by an array of doctors.
"The WBMRI costs around $1000 per year and everyone on the trial has been supported by Garvan to have this vital surveillance."
Izzy was 19 when she received her diagnosis in April 2019. It came after the family pushed for extensive genetic testing in 2018.
She's monitored by 20 different doctors, providers and therapists, has ongoing scans and medical appointments, yet she also fits a range of interests and hobbies into her life.
Izzy attends an employment support program with The Disability Trust; and is studying Certificate III in Early Childhood Education and Care through TAFE online.
"Achieving her goal of becoming a childcare worker has been hampered by COVID and all her medical appointments but Izzy won't give up trying," Mrs Madry said.
"She is pretty determined to reach those goals. It gives us great joy when we see her reach a goal.
"Her Christian faith has been a great strength to her in this journey and as she reads the bible each day it is a great comfort and hope for her.
"We know that unfortunately half of the 300 people who had Blooms Syndrome have passed away.
"We live with that thought. It is a risk but we live each day thankful to God for her."
Izzy's fundraising page can be found here.
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