Light on rare disorder

By Lia Bichel
EIGHT-YEAR-OLD Emily is unable to sweat; she has had dentures since she was three, and she has to be careful when she goes outside in the summer or she could over-heat, which could cause brain damage or, in the worst case scenario, death.
In 2003, she was diagnosed with a rare disorder ectodermal dysplasia (ED), which her seven-year-old brother, Braedyn, and two-year-old brother, Ethan also suffer from.
The diagnosis prompted their parents, Dandenong nurse Natalie Williams and her husband Andrew to take action in an attempt to help other parents and children affected by this disorder.
There are different forms of ED, which could affect different parts of the body in diverse ways.
In some cases, the skin is affected by eczema or surface blood vessels may be visible. Scalp hair may be absent or fragile; nails may be thick or brittle and saliva may be sparse. Diminished or absent sweating is a common problem and some people suffer from respiratory problems.
Because ED is very uncommon, Mr and Mrs Williams had no support group to turn to after Emily’s diagnosis, so in 2004 they launched their own.
“It was quite isolating for us,” Mr Williams said. “We wanted to change that. We thought it would be a great local support group, but it has turned into a national (group) with representatives in each state.”
Today, more than 300 people across Australia who are affected by ED are represented in the voluntarily run ozED- Australian Ectodermal Dysplasia Support Group.
Each year, members attend a ‘camphrence’, where parents are educated and children participate in a variety of fun activities. “We tend to focus on the adolescent age because, as it affects their physical condition, children (with ED) are more susceptible to bullying,” Mr Williams said.
Having worked for the past 15 years at Dandenong Hospital in a variety of areas including intensive care and infection control, Ms Williams said raising awareness of the condition was vital. “Education of health providers is one of the most important aspects of ozED. If we can get the information out to professionals, families will not have to feel that sense of isolation that we felt,” she said.
The inaugural ozED – Emergency Services Charity Night is to be held on 26 February. Tickets are $70 per person. The money raised will go to the youth and family program, which aims to reduce the social consequences of this condition such as bullying of children affected by the disease.
To buy tickets, phone 9755 5626 or email event@ozed.org.au