30/01/2025
You know those beautiful people you meet in life & they Make a big impact on you and they are the most kindest & Amazing humans who would give the shirt of their own Backs to help you .
That’s Bree & Jess!! They are two beautiful and kind Souls,
They are a dream team 💪🏼
And they have 3 beautiful kids Asha,Sage & Huxley …
Recently I had heard that Huxley was diagnosed with Angelman syndrome and I only know very little about it .
I’m literally going to read through everything this Evening, So I have more understanding,
I want to know more about it and I want to help Raise Awareness,
To also assist I am donating a $500 Voucher For a Raffle That will be drawn on the 15th of February at the Ladies Come & Try Day at the Broken Hill Kart Club,
All funds raised will be donated to Fast Australia
More Raffles will be announced soon also.
The 15th of February is also International Angelman Day.
So let’s raise awareness and support These Guys, Please Read their story below 👇🏼
Huxleys Story
Hux was born on the 22nd August 2024, upon entering the world Hux had some concerns like feeding issues and extreme irrability or what we thought was pain, a week later a new paediatrician that listened to our concerns seen Huxley and immediatly had him and Breeza on the Royal flying doctors out of Broken Hill assuming that he had sepsis and possibly meningitis. Our little man was not well and endured so many tests including 2 lumber punchers at only a few weeks old. His tests were inconclusive but bloods showed infection so he was treated for meningitis for 3 weeks.
We also discovered during this time he has failure to thrive, Reflux (GERD) and Reflux of the bladder kidney which has continued to cause 4 UTIs since birth. This will need surgery when he is old enough to fix.
Huxley was admitted again after this stay in broken hill hospital for a UTI and high liver levels. A few weeks later he was flown back to Womens and Children's a second time with liver concerns. This is when Womens and Children's started to look further into genetic testing.
It was here, a week before Christmas the results came back with our devastating news that Huxley has Angelman Syndrome (AS), a rare and complex neurodevelopmental disorder caused by defects of a single gene on the maternal copy of the 15th chromosome.
AS will impact many aspects of Huxleys life, 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.
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! However, their happy, loving nature is often overshadowed by the overwhelming difficulties they and their carers face daily.
Often misdiagnosed as cerebral palsy or severe autism, early diagnosis is critical for appropriate medical and therapeutic intervention. Intensive educational and therapeutic programs, repetition, and environmental enrichment all help to enhance their lives significantly.
Recent scientific advances offer real hope for a treatment for Angelman Syndrome. Historically, families were told a cure was not possible. We see a different horizon today, with multiple clinical trials seeding hope. We can imagine a future where we can imagine our AS children living seizure-free lives, able to walk and eat without difficulty and speak those magical words all parents long to hear… ”I love you”.
HOW WE NEED YOUR HELP..
The Foundation for Angelman Syndrome Therapeutics Australia (FAST Australia) is dedicated to improving the quality of life for individuals with Angelman syndrome by ensuring timely diagnosis, access to best-practice care, and advancing research toward effective treatments.
When more people know about AS, more scientists work to find a cure and more doctors learn how to take care of kids and look for signs for early diagnosis.
The support we have had from FAST and the Angelman community is unlike anything I have ever seen. Simply amazing people and services.
Please join us in rasining awareness, creating a discussion and raising much needed funds. Treatments exist! Let's make Huxleys and other Angelmans future look bright đź’™
