Most have heard of Down syndrome, but much less is known about the rare chromosome disorder known as Trisomy 18.
Some are hoping to change that this month, which is Trisomy Awareness Month.
Diagnosed in pregnancy, the condition, also known as Edwards syndrome, is chromosomal disorder caused by an extra 18th chromosome. It is the second most common chromosome disorder after Down syndrome.
Often terminal, fewer than 10 per cent of children born with Trisomy 18 survive their first year.
“Most of the Trisomy 18 kids pass away in pregnancy. The ones that survive the pregnancy pass away at delivery, and the ones that survive delivery don't make it to the first year,” said Esmima Lopez, whose seven-year-old daughter Amanda Cugurs has the condition.
Though doctors didn't expect Amanda to make it even one day, her parents did, and eventually they brought her home to live with them.
“If we're going to lose her, we're going to lose her at home. We're not going to pump her up with morphine,” said Amanda’s father Eric Cugurs.
Using a tube to breathe and eat, Amanda can't walk or talk.
Still, for her parents, each day is a milestone. They couldn't be more proud.
“We said to ourselves regardless what she has - that's not what she is. She's perfect. What is not perfect is the Trisomy 18. But she's not the Trisomy 18,” said the girl’s mother.
Amanda’s parents keep their home well stocked with balloons, Amanda’s favourite toy.
“She smiles, she laughs, she makes us laugh. She loves life,” she Lopez.
It’s a message they want to give other parents struggling with this disorder.
The pair has been invited to speak to medical students about the affliction.
“Yes, you can read about Trisomy 18 in a textbook and they'll tell you it's not compatible with life and they don't survive, they will suffer. But we bring us with her and say, ‘Is she suffering?’ She's seven, you can't just stamp something on a person's life. You don't what's going to happen. She's going to be here as long as she's going to be here. And we treat her accordingly,” said Cugurs.
It's a life full of challenges and sacrifices.
Amanda is becoming too big to carry around and they need to find funds for an adapted vehicle.
These, however, are problems they are proud to have, as long as it gives them more time with Amanda.
“I don't expect her to give me a grandchild, I don't expect her to give me honours in school. I don't expect her to be a recognized football player, but I expect her to be her. Just that. And she's a happy girl,” said her mother.