Businesses support our angel

When Amanda Stone of Umina, was three and a half, her parents were told she would be unlikely to reach 10 years of age.

Amanda was diagnosed with Rett Syndrome, a tragic disorder believed to be one of the most common causes of severe progressive intellectual disability in females.

Today, Amanda is 14 years old but she cannot speak, feed and clothe herself.

She spends all day in a wheelchair and needs 24-hour care.

She is just one of four girls on the Central Coast with the syndrome.

Businesses on the Peninsula are supporting Angel Week for the Rett Syndrome Australian Research Fund from December 8 to December 12.

Judds Pharmacy Deepwater Plaza at Woy Woy, Umina Mall Pharmacy in Ocean Beach Rd and The House of Beauty in The Boulevarde, Woy Woy, will be selling angel ornaments and pins to help raise funds for research.

Rett Syndrome patients are sometimes known as "Silent Angels", as girls with Rett Syndrome have unusually bright eyes, and seem to understand more than they can express.

Amanda's grandfather, Gordon Stone, said that her eyes lit up when he saw her, she smiled and made eye contact.

At Glenvale Disabled School in West Gosford, Amanda is able to communicate by flicking a switch on a computer, but it takes her some time as Amanda also suffers from uncontrollable hand movements, another symptom of the condition.

"She tries very hard to communicate," Gordon said.

Both Amanda's parents work.

Her grandmother Elaine volunteers two days a week at Glenvale, while Gordon drives the bus on his day off from Gosford TAFE every Friday.

Once a year the Stones visit the Rett clinic at Westmead Hospital where they have access to speech therapists and specialists.

Affected girls develop normally for the first six to 12 months of life then, mysteriously development stops and sometimes reverses.

Amanda wasn't diagnosed with Rett Syndrome until she was three and a half.

"She wasn't showing any real symptoms," Gordon said.

Now, a DNA screening procedure can diagnose children with the condition.

The disorder results in severe disability and for most the inability to communicate or be independently mobile.

Most die before they reach 20 years of age.

Some die under the age of 10 years.

The disease affects up to one in 10,000 female children born.

Press release, November 21