PARENTS of children with chromosomal disorders are asking for your help.
Children like Eva Pym, 3, of Kellyville, who is believed to be the only person in the world with a condition called 6q23-25 deletion.
Eva and her mother Katherine are members of the Australian Rare Chromosome Awareness Network, which provides support, information about services and maintains a social network for mothers.
The network is holding a fund-raiser in October to help families who spend thousands of dollars on medical bills a year.
Mrs Pym said Eva sees 14 specialists regularly for heart, speech and developmental problems.
Since June Eva has taken a growth hormone, a treatment that may help her grow and walk — an alternative therapy for her heart condition (dilated cardiomyopathy).
"But we were told she might be getting closer to needing a heart transplant, which is terrifying," Mrs Pym said.
The network's president, Patricia Jonas, said many symptoms of chromosomal disorders were similar. Her daughter Georgia, 7, is believed to be the only one in the world diagnosed with the conditions 5p13.1p14.1 duplication and 5q11.2q13.3 duplication.
"It's good to talk about it with someone who knows what you're going through," she said.
Mrs Pym agreed: "I felt very alone before. This group celebrates small achievements and they've changed my whole journey."
The volunteer group is supported by Greenway Labor candidate Michelle Rowland, who provided free printing.
■The Australian Rare Chromosome Awareness Network’s gala dinner is on October 12 at the Novotel Parramatta. Tickets cost $100 and include a three-course dinner with drinks and entertainment. Details, bookings: trybooking.com/51163. Donations: arcan.org.au.