Special care for rare disease

“Kate Jones, medical reporter

JUSTIN Reynolds is one in 20 million.

He is the only Australian suffering from a rare and deadly genetic condition called Lesch-Nyhan syndrome.
The syndrome causes Justin to self-mutilate his lips and fingers, constantly biting them until they bleed.
His mother, Debbie Reynolds, said if left unsupervised, Justin, 13, would bite his fingers down to the bone.
“He screams, but he keeps on biting,” she said. “He knows what he’s doing, but he just can’t help it.”
Doctors believe the self-mutilation episodes are triggered by the overproduction of uric acid in Justin’s malfunctioning kidneys.
The devastating disorder also causes Justin to involuntarily hit those around him, and hit his limbs or head against walls.
On top of this, the young St Kilda supporter has cerebral palsy.
Luckily, Justin and his family have the support of Very Special Kids.
The charity provides respite care for hundreds of Victorian families who have children with life-threatening illnesses.
It organises camps for their children and their siblings, family counselling and provides volunteers to families who need help at home or simply someone they can talk to.
This year, Very Special Kids is celebrating its 20th anniversary.
The charity supports more than 750 Victorian families whose children suffer from a range of illnesses including cancer and muscular dystrophy.
Unfortunately, many of the youngsters do not live to adulthood.
Ms Reynolds and her husband, Gary Kenna, turned to Very Special Kids seven years ago.
Through the charity, Ms Reynolds has joined a support group made up of parents who also have children with terminal illnesses.
Justin also stays at the Very Special Kids House, a hospice staffed by nurses and carers.
“Justin loves it. He’s spoilt rotten and gets lots of attention,” Ms Reynolds said.
Very Special Kids was established in 1985 by two families who met when their children were dying from leukemia.
The families supported each other throughout the traumatic experience and gradually began helping other families going through similar hardships.
Sister Margaret Noone, from the charity, recognised the need for a warm and comforting place for families to turn to in their grief.
In 1994, Tattersall’s pledged $5 million to Very Special Kids, allowing it to open the hospice and care for more families.
The charity now operates at a cost of $3.4 million a year.
A large portion of this expense is met through the organisation’s annual Piggy Bank Appeal. Last year, five giant pink pigs roamed around Victoria collecting donations from the public to raise a record amount of $957,602.
To donate to Very Special Kids, visit the website at www.vsk.org.au or phone 1800 888 875.