Posted by Ian FAIRNIE on Oct 27, 2024
Last year, on 22 August to be exact, Dr Gareth Baynham spoke to Applecross Rotary about Undiagnosed Genetic Diseases.
 
Earlier this year, Joshua Patrick (pictured with his sister Charlotte who he is her carer), a student at Northam Senior High School began a conversation with me on LinkedIn about our proposed Global Grant to reduce the incidence of juvenile deafness in the Eastern Wheatbelt, and as our conversation grew I realised I was talking to a very special person.  
 
Josh, his mother and two sisters are carers for their sister Charlotte, who has (or had until very recently) an Undiagnosed Genetic Disease, and Josh is a well known advocate for Young Carers.  And lots of other related things which are listed at the end of this story*.
 
Josh will be our guest speaker over breakfast on 28 January 2025.  He is a passionate speaker so please make sure you are there to hear him and bring some guests.  It will be a celebration at many levels (read on).
 
Just to recap: Gareth Baynham is Director of the Undiagnosed Diseases Program at the Rare Care Centre at the Telethon Kids Institute.  There are currently around 63,000 young people in this situation in WA, and half of the cases remain undetermined - that’s over 30,000.
 
Now, as of a month ago, there’s one less - Charlotte.  
 
The diagnosis means Charlotte can now receive a treatment plan that works well for others with the same condition.  Dr Baynam: “We can now unequivocally say that Charlotte is going to have a long life. She is not going to go backwards, there is a path forward,
 
“This specific gene variant has just occurred out of the blue. It was something that happened and it’s not hereditary and can’t be passed on.”
 
It has also given a sense of hope not only for Charlotte’s future but also for her three siblings, who are going to be able to have children one day without having to worry about having a child that had inherited medical issues.
 
Josh is thrilled that Charlotte is no longer has a SWAN - Syndrome Without A Name.  
 
And the good news continued with Josh recently receiving a place in UWA's Fairway Program for students who have career dreams, but who would perhaps not feel that attending UWA was a feasible option for them due to location, poverty or other hardships. The Fairway Program provides access to summer school and other academic support to help make the path to university as smooth and easy as possible.
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And to top it off, he has just received “early acceptance" into UWA to study for a double degree - Bachelor of Engineering (Honours) and Bachelor of Science with a major in Biomedical Engineering!
 
*Joshua Patrick: TEDxYouth Speaker, Community Youth Citizen of the Year, Minderoo Intern, Civic Engagement YAG, Carers WA YAG, VCI Ambassador, National SWAN Sibling Ambassador, Carer/Disadvantaged Youth Advocate, Passionate Change-Maker