( Weekend Australian - 27th March,1999 )
JACINTA Stanford was born two years ago with a crimson birthmark covering the right side of her head. Doctors thought the mark - called a port-wine stain - would turn out to be harmless and told her parents, Joanne and Peter, it could be removed eventually by laser. But bu the time Jacinta was four months old she had begun to have seizures, and it became apparent the birthmark was a sign of more extensive and complex problems. Jacinta was diagnosed with Sturge-Weber Syndrome, a rare neurological condition involving excessive growth of blood vessels.
The port-wine stain is caused by blood vessels growing under the skin. Neurological symptoms are caused by an underlying mass of vessels covering the surface of the brain. The mass constricts oxygen flow to the tissue underneath, limiting the brain's growth and development and eventually causing it to shrink. In Jacinta's case, symptoms are limited to one-half of her face, but for some children excessive blood vessels can grow on both sides of the head. In a related condition, the growth occurs not on the head, but in the limbs or on internal organs.
Ms Stanford says the diagnosis has set the family on the path of discovery via the Internet and e-mail as there is little information available in Australia about the condition and few doctors have come into contact with it. "You start off thinking it is just a birthmark and then you hear about all these other things that could, and have been, going wrong," Ms Stanford says. The couple obtained most of their information form the US based Sturge-Weber Foundation which funds most of the research being done into the disorder. Ms Stanford has become its Australian representative.
The incidence of the rare syndrome is difficult to pinpoint, but Ms Stanford knows of 28 Australian families with affected children who have joined the foundation. In July, the couple will travel to the US at their own expense to attend the foundation's biannual conference for families, researchers and specialists. They hope to return with information to help Jacinta and other children with the disorder progress.
Already Sturge-Weber Syndrome haas cast a shadow over Jacinta's life, affecting her health and development. By nine months of age the infant was having seizures everyday, sometimes lasting one or two hours. As a result, she developed only to the level of four-month-old child. "She couldn't learn to do anything because she'd keep getting bombarded with the seizures," Ms Stanford says. The infant has laser treatment every three months to help fade the birthmark on her skin, and last year she underwent delicate surgery in which doctors removed the damaged half of her brain.
Jacinta is one of 75 children aged up to 15 years who, over the past decade, have had the surgery performed by doctors at the Children's Neuroscience Centre at Melbourne's Royal Children's Hospital. The director of the hospital's neurosurgery department, Jeffrey Rosenfeld, says the operation involves doctors removing dead and damaged brain tissue, which impairs a child's development. Since the operation, Jacinta has improved markedly, her mum says. "Within weeks of the operation we could see the difference in her face, in the way she looked. There was a clarity in her eyes."
Jacinta has had only two seizure episodes in the past year, has mastered
the art of scooting around on her bottom and is learning to walk.
While she is likely to remain weak on one side and may never use her left
hand, it is too early to tell whether the seizures have caused lasting
intellectual disabilities. Her parents are hopeful.
( Belinda Hickman - medical writer )
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