BALLARAT'S Rachel Butler is living every parent's nightmare.
Doctors have told her she will outlive her two-year-old daughter Kaitlyn, who was diagnosed with a rare genetic condition on December 13.
"In one month she went from being a happy, normal child crawling around to having no energy and lying on the floor," Ms Butler said.
After Rachel was initially told Kaitlyn was "just a sooky child", doctors finally diagnosed the 22-month-old with Metachromatic Leucodystrophy (MLD), a condition that affects one in 40 million people.
Grandfather Rob Butler said there were 100 known cases throughout the world.
"The statistics are Tattslotto figures," he said.
"Kaitlyn's the only known case in Australia and doctors think she might be the youngest ever diagnosed."
"She has infantile MLD and there is no one in the world with it who has lived past the age of four."
Kaitlyn celebrated her second birthday on Saturday and met her idol, Dorothy the Dinosaur, who appeared at the Ballarat Pacing Cup.
"It was great, the smile on her face when she met Dorothy was priceless," Ms Butler said.
The family experienced mixed emotions yesterday when Kaitlyn was christened at the Holy Trinity Anglican Church in Sebastopol.
"It was just magic to see the smile on her face," Mr Butler said.
"But it's devastating to be totally helpless."
Mr Butler and his wife Loretta have spent every waking hour investigating the condition.
"We have contacted Duke University in North Carolina and they have told us that Kaitlyn could have a cord stem cell transplant that could help prolong her life," he said.
"The Melbourne Royal Children's Hospital has said they could do it and now, Rachel has to decide whether to go through with it.
"Whatever decision she makes we'll back her 100 per cent."
Mr Butler said rylsulphatase A, the enzyme Kaitlyn is deficient in, would be transplanted from the umbilical cord of a newborn child.
MLD causes damage to the myelin sheath surrounding nerves and causes progressive paralysis of all motor function.
"She'll lose her sight, speech and breathing and will have to go onto a trachea," Mr Butler said.
"We just feel so helpless, but we've had her for 104 weeks and we want to keep her here for another 104 weeks," he said.
Ms Butler said she was now faced with the toughest decision of her life.
"It's devastating; our lives have been turned upside down," she said.
"MLD is not curable; the transplant can stabilise her but she can come out of it blind or with more neurological defects than she has now.
"It could give her a life or take her life."
The Butlers know they are fighting a losing battle, but have vowed to soldier on.
"We know that we can't do anything, we know that in the end she will die, but the only thing we can do is prolong her life," Mr Butler said.
"She is our little angel."
Ms Butler hopes Kaitlyn will have the chance to meet her great-grandmother, who lives in Townsville.
"We hope there is someone out there that can help us get to Townsville," she said.
"Her great-grandmother is very sick and I want her to meet Kaitlyn."
Rachel is currently looking for a house in Ballarat to be close to the hospital, as her parents live in Dereel.
The family also hopes to develop a web page following Kaitlyn's journey.
"We're hoping someone in the community might be able to help us make the web page, Kaitlyn's Flower Trail," Ms Butler said.
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