Amber Vick is an amazing 5 year old girl who has a neurodegenerative condition known as Hypomyleination with Atrophy of the Basal Ganglia and Cerebellum(H-ABC).
This is an extremelly rare condition that currently affects approximately 60 kids and adults worldwide. Amber is the only known person with the condition in Australia at present.
When Amber was born in 2010, she presented as any other baby. However as time passed, she failed to meet most development milestones. While her peers began to roll, sit, stand and talk independently, Amber was only able to achieve some of these skills with assistance.
Amber endured multiple investigations over several years through the Royal Children's Hospital and eventually in liason with international specialists it was discovered she had a rare form of leukodystrophy caused via a mutation of the TUBB4A gene.
The condition unfortunatley is degenerative and affects all aspects of Ambers health. Currently Amber has the following symptoms -
-Dystonia (fluctuating muscle tone), especcially in her limbs and neck
-Nystagmus (rapid involuntary eye movement)
-Optic nerve atrophy
-Dysphagia (swallowing problem) requiring her to be feed mainly via PEG (tube into her stomach)
-Dysphasia (speaking problem)
-Mild Hearing impairment
-Global developmental delays
-Subluxation of both hips (partial dislocation), which as required several surgeries to treat
Amber is starting mainstream primary school next year at Burwood East Primary School.
To assist her to participate fully at school we are fundraising to purchase some specialised equipment to assist her to communicate at school using a voice generated communication device and to access computer technology using head switches.
We have been fortunate to have Amber attend the Cerebral Palsy Education Centre and with their help she has begun to take a few steps in a walker with assistance and has learnt to communicate using a PODD communication book.
Amber has also been attending mainstream kindergarten at Glendal Preschool and has been thoroughly enjoying it immensely.
Please visit our Facebook page for upcoming events. https://www.facebook.com//theamberandaustinappeal
We will soon have a website which you can read more information on Amber.
We thank you for your contribution whether it be big or small, every little bit counts