Hi, I’m Kate, William’s mum. We are fundraising to get he and I to the USA because he has been invited to participate in amazing research to help learn more about his rare genetic condition- DeSanto Shinawi syndrome..also known as DESSH. There are only about 200 known cases in the world. William is one of approximately 10 people in Australia…and the only one in Perth with the syndrome. This is only the 2nd time the clinic is being run after tireless work from volunteers in the US to raise money for the DESSH Foundation (charity). There is no research happening in Australia, so all the information we rely on to inform doctors here about William’s condition, comes from the US. William is also Autistic (a known comorbidity of DESSH based on the limited research that has been accomplished so far) and Childhood Apraxia of Speech (CAS - which makes speaking, and certainly speaking clearly very difficult). With his support needs, we had to drop back to being a single income family so I could stay home to support him and his therapies….and whilst that has been wonderful to get the regular early intervention supports he needs (and in his own way and on his own path he’s making great strides forward!) it means we do not have disposable income to afford an impromptu trip to America! I hope whilst we are there I can take him to do some fun things too…as whilst the clinic will be amazing for him long term with the research and discoveries they will make - it won’t be all that enjoyable at the time being poked, prodded and observed by doctors. We are hoping to raise enough money for our return international flights (just he and I - his dad will stay home to keep working) - we can scrape together enough for the domestic flights across Australia, accomodation and maybe a little bit of spending money so he has some fun memories of the trip too, Thank you for considering supporting us, helping us get there and therefore helping the research so we learn what to expect in the future for our gorgeous little man…and maybe even one day, find a cure! All our love and Thanks, Kate and William
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