Rare diseases in the spotlight as new WA parliamentary group seeks to raise awareness

Perth teen Mitch Swinbourn is 16 and like any typical boy of his age he likes gaming and hanging out with friends.

He is also one of just a handful of people worldwide with a rare familial cancer, Carney-Stratakis Dyad syndrome.

Carney-Stratakis Dyad is a rare, inherited disorder causing tumours in the gastrointestinal tract, head, neck and torso.

RVA’s Deputy Chair, Kane Blackman, and member of our Scientific Medical and Advisory Committee, Clin/Prof Gareth Baynam, were interviewed by the ABC after the formation of the first Parliamentary Friends of People with Rare and Undiagnosed Diseases in Western Australia

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Young Australians living with rare diseases defy the odds but need better support, expert says

Young Australians living with rare diseases can face significant social, employment and educational barriers in life.

Many can also experience isolation and exclusion from their peer groups. 

But Basit Bahram is trying his best to overcome these challenges. 

RVA’s CEO was interviewed by ABC News.

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Parents of first Aussie child diagnosed with rare disease to crowdsource clinical trial

If you ask her parents, Trisha Sawhney is like any typical 12-year-old girl in so many ways.

“Trisha is a happy-go-lucky child. She has lots of hobbies. She loves TikTok, singing and dancing,” her father Neeraj Sawhney, from Melbourne, says.

“She also loves cooking and baking and wants to start her own YouTube channel to upload her dance and cooking videos.”

RVA’s CEO, Nicole Millis, was interviewed by 9News.com.au.

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RVA’s Rare Disease Day Media Summary

A big thank you to everyone who played a role in helping to generate awareness for 2021 Rare Disease Day. Below, we have included a summary of media generated that RVA was involved in securing and/or were featured in.

Sunday Extra – ABC Radio National | Radio

Aired on Sunday (28 February) morning, this segment featured clinical geneticist, Dr Lisa Ewans who is a member of RVA’s Scientific & Medical Advisory Committee, as well as Sean Murray, the CEO and a founding director of RVA Partner, Mito Foundation, and Christine Lowe, President of RVA Partner, Myositis Association of Australia Inc.

Listen to the Sunday Extra segment on the ABC Listen app or your favourite podcast app. We’ve listed the Apple Podcasts and Google Podcasts links below.

Apple Podcasts (go to the 2hrs 33 min mark)

Google Podcasts (go to the 2hrs 33 min mark)

SBS news | TV and online

Aired on Sunday (28 February), this story featured Monty, an eight-year-old boy living with pontocerebellar hypoplasia. The story also included commentary from RVA’s CEO, Nicole Millis.

You can watch the TV segment that aired on SBS On Demand (available until 7 March). Go to the 29th minute mark on this link to watch the story.

An online article accompanied the TV story.

2GB (NSW) | Radio

Nicole Millis was interviewed about whole-genome sequencing in a package that aired on Sunday (28 February). Click here to listen to the clip.

This interview was syndicated across 4BC, 2CC, 5AA and 4BC.

Newscorp | Online

This story ran online on 26 February and was widely syndicated across four states. The reporter explores the story of families from three RVA Partner organisations: SCN2A Australia, Rare Find Foundation and ausEE Inc. The article also features Angelina and her family’s story – Angelina was part of the global Rare Disease Day campaign. Nicole Millis provides commentary. Click here to read the article.

The Advocate | Online

Three articles ran in The Advocate ahead of Rare Disease Day:

Damian’s story – Damian is a member of RVA Partner, Myositis Association of Australia Inc.

Angelina’s story – Angelina was part of the global Rare Disease Day campaign.

Tim’s story – Between 12 August 2020 and 28 February 2021 (Rare Disease Day), Tim ran 100km in 200 days to raise awareness for rare diseases. All funds raised were donated to RVA.

Source Kids Magazine | Online

A story will run in Source Kids’ Autumn issue, featuring commentary from Nicole Millis. We will share the article as soon as it’s available.

Hope on the Horizon

Imagine your child is showing symptoms that confound doctors. 

You see expert after expert, getting test after test. 

Perhaps you’re even scoffed at along the way, however, you persevere because your instincts as a parent are screaming at you that something is not right with your child and you know early interventions produce the best outcomes.

Rare Voices Australia’s (RVA) CEO, Nicole Millis, and Deputy Chair and Director, Kane Blackman, were interviewed by The West Australian.

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Amplifying the Patient Voice in Rare Disease Access

Rare disease patients are organising like never before, turning up the publicity volume and becoming ever more active in driving cures in the lab and even the boardroom.

As a person living with a rare disease and a professional in healthcare communications, I occasionally have moments of disconnect. Such as when I began this article.  

Let me explain. In Thinking Fast and Slow, a mental model proposed by Daniel Kahneman, system 1 thinking is characterised by ‘emotive, instinctive’ thought patterns, while system 2 thinking utilises a deliberate, rational frame of mind. We spend more time in system 1 thinking than most of us care to admit. 

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New Plan for Grappling with Rare Diseases

When Kane Blackman’s son started experiencing severe symptoms of an unknown condition, he was told his child was delayed and would eventually catch up.

It was then suggested his son probably had cerebral palsy.

Finally, he was diagnosed with Angelman Syndrome, a rare genetic disease affecting one in 15,000 Australians. It prevents speech, causes seizures, impacts motor co-ordination and requires a lifetime of care.

Click through to read the full article.