CHARLOTTE Reid’s small world is about to become much bigger.
The three-year-old and her mother Sunny will travel to the United States this week to try and find some answers for the many questions they have about Charlotte’s rare genetic disorders.
Charlotte suffers from hypohidrotic ectodermal dysplasia (HED), a genetic condition which means she can’t sweat and therefore can’t control her body temperature.
With symptoms which went beyond HED, her parents Sunny and David kept searching for answers.
Charlotte was diagnosed with trichothiodystrophy about 18 months ago.
There are only 36 known sufferers of the condition in Australia.
The most devastating effect of the condition is that Charlotte is allergic to ultraviolet (UV) light, which causes pain and damage to her DNA and immune system.
She must spend her days indoors or protected in a special UV-proof pram when she is outside.
Mrs Reid said the disease was degenerative, with Charlotte facing a future in a wheelchair and being tube-fed.
Most sufferers don’t live past their early teens and there is no cure.
“She’ll never be an old woman,” Mrs Reid said. “We know that for certain. No one likes to know their daughter is going to die. That’s a fact for us.”
The family has raised $11,000 through a Facebook campaign so Charlotte can be examined by doctors at the National Institute of Health in Bethesda, Maryland.
Mrs Reid said the institute had the best authorities on her daughter’s illness.
“The kids who go there end up having a much better quality of life,” she said. “They do a lot of testing that can’t be done in Australia.”
Trichothiodystrophy is caused by a recessive gene, which both Charlotte’s parents carry.
With a one in a million chance of even carrying the gene, the condition is extraordinarily rare.
Charlotte can only go outside to play at dusk and must wear a special sun suit.
She lives inside with tinted windows protecting her from the light, playing with her two older sisters and cats.
Despite her condition, the bubbly little girl is excited about her trip and taking her special teddy bear Morris along with her.
Mrs Reid said there would be 18 medical appointments during their six-day visit, but there would still be time to do things Charlotte would enjoy including a visit to the Baltimore Aquarium and a night-time trip to the beach.
Mrs Reid can only hope the trip is worthwhile.
“I’m not expecting too much,” she said. “I don’t want to be disappointed. We don’t know what’s going to happen.”
As well as donations from friends, the Reids received $4000 and an iPad for Charlotte from BSL Financial Services in Bendigo after the business heard about her via Facebook.
The Friends of Sammy-Joe Foundation, an Australian trichothiodystrophy charity, has also helped the family raise money and provides ongoing support for Charlotte.