New Zealand Organisation for Rare Disorders
PO Box 38-538,
Wellington Mail Centre
Phone: +64 4 471 2226
Charities Commission Registration CC22512
Family funds research into "lost girls"
03 JANUARY 2001
By LEAH HAINES
FIGHTING SPIRIT: Gillian Deane with a photo of the daughter she lost to Rett syndrome. She and husband Roderick Deane set up the Kristen Deane Endowment Trust to fund research into the syndrome.
Kristen Deane was born with the world at her feet. The only child of New Zealand's "Mr Business" Roderick Deane and his artistic wife Gillian, the potential which lay ahead as her life unfolded would have been boundless. But at about 18-months-old, when her peers were getting the hang of building with blocks, she began to drop them. The little girl started to wake, screaming, in the night.
"We knew that something was horribly wrong," Mrs Deane says. The Deanes had no idea at the time, but their beautiful daughter had Rett syndrome, a genetic condition which robs apparently normal little girls of the ability to walk and talk and leaves them profoundly mentally and physically disabled. They used to be called the lost girls because for the first few months of their lives, even up to the age of three, girls with Rett syndrome develop at the same speed, reaching the same milestones, as other children their age.
Then they start to decline, progressively losing their motor skills until they became totally dependent and severely handicapped, with most girls dying before they reach their 20s. Rett syndrome - which almost always only affects girls because of its position on the X chromosome - was not recognised until the early 1980s.
Even then, it was not until the girls started regressing, losing the little language they had learned, and developing signs such as characteristic hand wringing that doctors were able to diagnose what was wrong. But in September 1999, scientists stumbled upon the gene responsible for Rett and changed that forever.
Because it is now known where on the X chromosome to look for the gene, families can test girls and find out conclusively whether they have the disease before its tell-tale signs set in. Perhaps more significantly, the gene discovery means there is hope that scientists can learn how to stop girls with Rett from going into the devastating decline in the first place.
The discovery came too late for Kristen, who died five years ago at aged 27. Her mother is convinced that scientists will discover a cure and to this end the Deanes are funding a group of Dunedin scientists. The researchers at the Cancer Genetics Laboratory at Otago University are preparing a New Zealand study of the disease that affects about one in every 10,000 girls.
Mike Sullivan, who is leading the group, believes that because Rett girls begin their lives with a period of normal development it is conceivable that the regression they experience could be stopped. "Who knows, unless you ask the questions you are not going to get the answers." Since the "fantastically exciting" gene discovery last year, and with funding from the Kristen Deane Endowment Trust, his laboratory has tested 20 girls for the disease.
Mrs Deane describes Dr Sullivan and his team as "some of the best minds in the world" and believes they will discover how to stop Rett's symptoms and allow girls with the disease a normal life. When Kristen was seven, the family was living in the United States. Her yet to be defined sickness caused doctors there to tell her parents to expect her to die by the age of 10. She was suffering from multiple huge grande mal seizures every day. Mrs Deane eventually took Kristen out of school to spend as much time as possible with her before she died.
Kristen outlived doctors' predictions by 17 years. Though she was bed-ridden for nearly eight years and lost the ability to walk at age 12, Mrs Deane puts her daughter's survival down to "one of those spirits that would not give up". "I think each day she thought that something might happen and she would miss out."
Before scientists defined Rett syndrome, Mrs Deane says she lived in the hope that her daughter's mysterious symptoms would go away. "You think, if they could do things before why can't they do it again."
The Deanes tried, "every fashionable theory for disabilities there was". Then in 1984 researchers picked up on a discovery made by Austrian scientist Andreas Rett in the 1960s and published the first medical article outside of Europe which recognised and defined the disease.
Mrs Deane says the relief at having Rett defined was enormous. "Here we were thinking that Kirsty was the only one." She then made contact with families all over the world affected by the disease. Then, when scientists discovered the Rett gene in 1999, she met Dr Sullivan, who had already been looking at the gene as a part of cancer research.
Despite her passion for untangling the mystery of Rett, Mrs Deane says she was never weighed down by the devastation of imagining the life that could have been her daughter's.
"I am one of those people who think that life is great, you never know what cards it is going to deal you and you use all your problem-solving skills to deal with the ones you got." Kristen communicated with her eyes and shared her mother's love of art, Mrs Deane says. Her face would light up when Kiri Te Kanawa recordings were played. "She just thought Pavarotti was heavenly."
Toward the end of her life, people who were dying of cancer would come and visit her. "They wanted to see what the secret was. It was the process of dying well," her mother says. "Because she woke up smiling every morning, other people wanted to know what her secret was."