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Rare Disease Day: a year-round endeavour

Posted: 28th February 2019

While much of SVI's research is focused on common diseases, we also do some world-leading research in rare diseases.
One such disease is Fanconi Anaemia, a rare genetic disease that leads to blood disorders at an early age and an increased predisposition to cancer in later years. 
SVI is the only research institute in Australia with a team of researchers dedicated to unlocking the mystery of this devastating disease. 
This year’s global theme for Rare Disease Day - ‘Bridging health and social care’ - focuses on bridging the gaps in the coordination between medical, social and support services in order to tackle the challenges that people living with a rare disease, and their families, face every day. In light of that, the Institute is hosting the second Australia-New Zealand 2019 Fanconi Anaemia Family Meeting on the 7th and 8th of June. 
Dr Wayne Crismani works closely with Associate Professor Andrew Deans in the Institute's Genome Stability Unit, and is chief organiser of the Family Meeting.
"As medical researchers, we are motivated by the patients - who are often very young children - and their families, who have first-hand experience with this rare and debilitating disease. Working with Andrew and meeting FA families drove me to learn more about it, and I saw a need for a Family Meeting to be established here. Families and their advocates from Australia and New Zealand didn't have a 'local' option to come together to share their stories, learn about new developments, gain advice from genetic counsellors and speak to researchers like Andrew and myself, as well as other leading researchers from around the world. This Meeting fills the gap and gives them the opportunity to build stronger networks.”
One Australian family that has had a huge impact on Waynes’s drive to keep searching for answers is the Hawkshaw family from Sydney.
Chris’ daughter Amelia was diagnosed with Fanconi Anaemia, a rare genetic disease, at 23 years of age; he tells the story of his daughter's experience with Fanconi Anaemia below:
"Amelia’s health nightmare began when she was diagnosed with bowel cancer at the unusually young age of 23.  There were complications following surgery which delayed the start of her chemo treatment.  And that’s when things got really scary.
That first chemo literally wiped her out.  She had a hypertoxic reaction to the chemotherapy: her oncologist had never seen anything like it.  What followed were months of life-threatening complications.  Various infections, including pneumonia.  She was at risk of an internal bleed.  Amelia was in and out of intensive care four times during that period alone.
But she was a fighter.  And she would need to be, because worse was to come.  Amelia had a serious allergic reaction to antibiotics, then her liver and kidneys began to fail.  Her specialists – and there were many – were baffled.
Then there was a serious issue with fluid in her lungs.  They had to intubate her and her life hung in the balance. (Words can’t describe the despair of watching your previously bubbly daughter going through something like that.  She might have been 23, but she was still my little girl.)
A geneticist at the hospital had an inkling of what might be wrong.  She felt Amelia’s symptoms and reactions could indicate the rare genetic disease Fanconi anaemia.  The first test came back negative as Amelia’s complications continued. The geneticist persisted with a second test.  And bingo: there it was!  A confirmed diagnosis of Fanconi anaemia (FA).
While it was a relief to put a name to what had been causing so many issues, it was puzzling.  Amelia had sailed through childhood with few health issues and most people are diagnosed before the age of 10.  She also didn’t exhibit the more common characteristic physical anomalies.  But it did explain her early-age bowel cancer, as people with FA are highly prone to some types of cancer.
That’s all irrelevant now.  All that matters is that we need to remain constantly vigilant.  As Fanconi anaemia is a multi-system disease, she is under the care of a team of doctors and specialists who monitor her carefully.
My wife Barbara and I, meantime, have been trying to learn as much as possible about this awful disease.  That’s how I learned about the FA research being conducted at St Vincent’s Institute.  It’s the only kind of its research happening in Australia – and it’s what gives us hope.  And I mean real hope.
The statistics are sobering:  life expectancy for people with this condition is between 20 and 30 years.  Though, as I keep telling Amelia, with research and better treatments and monitoring, her generation are re-writing the statistics as they go.
I am incredibly indebted to research lead, Associate Professor Andrew Deans, and his team for the work they are doing that is shedding real light on how the proteins fit and function in Fanconi Anaemia."
If you would like to support the Australia-New Zealand 2019 Fanconi Anaemia Family Meeting, and to drive research to support a cure, you can donate here

For more information please see: Genome Stability