Doing it for little girl Evie

A KAMAROOKA family is hoping to raise enough money to travel to the United States to learn more about their daughter's rare chromosome disorder.  

Four-year-old Evie Medlyn was born with extra chromosomes and was diagnosed with isodicentric 15 disorder.  

She attends kindergarten in Elmore and Epsom twice a week but as a result of the disorder has a delayed mental development and finds it difficult to communicate verbally. 

Mother Anne Tiplady said there are only 50 known cases of the disorder in Australia. 

"Doctors don't know anything about it," she said. 

"We are up to our third pediatrician, none of them have ever heard anything about it."

Ms Tiplady said the Dup15q Alliance was a US non-for-profit corporation which provided family support and promoted awareness, research and treatments for people with the syndrome. 

She said the alliance would host a conference in July next year, which would focus on the latest research into treatment and management of the disorder. 

If there was something out there offering help and support it would make it easier for families. - Anne Tiplady

She said it would include talks by medical experts. 

"We will take all her medical records," she said. 

"Hopefully we will have a one-on-one session with a doctor. It will be just great to be able to talk to them and learn more about her future."

Ms Tiplady said she was also passionate about setting up a clinic for families with children who have rare chromosome disorders. 

"There is really nothing for families who have children with rare chromosome disorders in Australia to get support," she said. 

"It would be great if there was something.

"I would hate another family to go through what we went through.

"We have basically had to Google to find our feet.

"If there was something out there offering help and support it would make it easier for families."

Ms Tiplady said the family were hosting a trivia event at the Bendigo Club on September 20 to raise money for the trip.  

She said the club had donated the room and food free of charge and the event would include a trivia competition, a raffle and silent auction. 

Tickets cost $20 per person. 

To book call 5434 4482 or email tippaanne@yahoo.com.au

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