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Dianne Prest

$5,650 of AUD $5,000 target.

Raised by 0 people in days for Foundation for Angelman Syndrome and Therapeutics Australia Limited

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Dianne Prest

Story

Riding For The Angels is a team of riders that are competing in the 2018 Gibb River Challenge, a mountain bike event over 6 gruelling days through the rugged Kimberley region of Western Australia.  Our goal is to raise as much money for FAST (Foundation for Angleman Syndrome Therapeutics) Australia. What is Angelman Syndrome (AS) you ask? We didn’t know about this rare genetic disorder until 2 years ago either. My husband and I, after concerns with the development of their 4th son Daniel got the diagnosis in May 2016 that Daniel had Angelman Syndrome.  

 

Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately 1600 individuals in Australia.  AS has devastating effects including global developmental delay, problems with movement and balance, lack of speech, seizures, severe cognitive impairment, feeding and sleep difficulties. People living with AS require a lifetime of assistance and care, intensive therapies and close medical supervision. Daniel has yet to say his first word but his family are hopeful it will come in time, however anyone who knows Daniel, knows that speech is only one of many methods of having a voice, and Angels are very clever at getting their thoughts known.. 

 

 

Despite their challenges, individuals with AS are renowned for their happy disposition and huge smiles. Their infectious laughter and emotions are expressed with every inch of their body, with hugs so sincere that they are rarely forgotten! Daniel often flirts with ladies out in public who can’t help but smile back at his contagious grin.  

 

AS is caused by the lack of function in just one gene, making it an attractive research prospect for scientists and pharmaceutical companies; because the gene is known, there are a number of approaches that can be taken to correct the genetic error.   Renowned gene therapy pioneer James M. Wilson, M.D., Ph.D., and his team from Penn Medicine's Orphan Disease Center are working on one of those approaches, as is pharmaceutical giant Roche Pharmaceuticals; to name a few. 

 

In addition to gene therapy approaches, the Australian team are working on bringing trials of drugs aimed at treating the symptoms of the syndrome to families in 2018. We hope that these drugs can bring relief to families faced with intractable seizures, severe sleep disorders and improve things like balance and coordination.  These drugs will not fix the underlying error, however if successful we can dramatically change quality of life for families whilst we work on an ultimate genetic rescue.   

 

Simple things like riding through the bush with the support of your donation could very well help towards FAST giving Daniel and his AS brothers & sisters a voice in the very near future, lets just hope it doesn’t take the smiles from their faces because the world will be a poorer place without them. 

 

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        Foundation for Angelman Syndrome and Therapeutics Australia Limited

        The Foundation for Angelman Syndrome Therapeutics (or FAST) is an organisation of families and
        professionals dedicated to finding a cure for the rare condition, Angelman Syndrome and related disorders
        through the funding of an aggressive research agenda, education, and advocacy. The Foundation is committed to
        assisting individuals living with Angelman Syndrome to realise their full potential and quality of life.

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        Created by

        Dianne Prest

        for Foundation for Angelman Syndrome and Therapeutics Australia Limited

        Fundraising for

        is simply dummy text of the printing and typesetting industry. Lorem Ipsum has been the industry's standard dummy text ever since the 1500s.

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