NO TEARS: Local family hit by a heartbreakingly rare diagnosis

ABOUT to turn 2, Elora is only the second child in Australia diagnosed with a rare degenerative condition.

A VIVACIOUS toddler, Elora Treen is unable to produce tears when she cries.

The rare symptom is part of her official diagnose of Congenital Disorder of Deglycosylation or NGLY1-CDG.

She is only the second child in Australia ever diagnosed with the condition.

About to turn 2, she is the first child of Jessica and Adrian Treen.

Originally from Brisbane, the young family lived in Lismore before moving to Ballina, where Elora was born, Mrs Treen said.

“Apparently we are the second diagnosed case in Australia ever,” she said.

“It’s a neurodegenerative disorder.

“It’s a terrifying thing. A part of her brain, called the cerebellum, has already been affected, plus a lot of the NGLY1 kids are not verbal, some of them say one or two words, 50 per cent of them develop seizures, they have liver disease and they don’t cry tears, that’s one of the clinical signs of the disorder.”

Mr Treen said the disorder affects all areas of the body.

“Intellectually, movement and her ability to grab things, they are all compromised,” he said.

Ballina couple Jessica and Adrian Treen with daughter Elora, who has been diagnosed with a rare condition called Congenital Disorder, Deglycosylation or NGLY1-CDG.

Mrs Treen said Elora has a number of doctors caring for her, including a paediatrician in Ballina, plus a neurologist and metabolic doctor at the Royal Brisbane Children’s Hospital.

“NGLY1-CDG was discovered in 2012, and only this year the first case in Australia was diagnosed and, apparently, there is a potential third,” she said.

She also has an NDIS plan that allows her to have treatment through Cerebral Palsy Alliance in Alstonville, where she gets a number of different therapies.

Mrs Treen commented on the lack of knowledge about the rare disease within the Australian doctors.

“That’s the scariest part, because at least in the USA there are more cases, but here we are pretty much the first everywhere we go, they have never seen it before.”

“Basically, we are trying to prevent her from degenerating,” Mrs Treen said.

The couple is in contact with the Grace Science Foundation in the USA, the only private organisation looking into medical research in this area.

The Treens are hoping to be able to take Elora to the USA to find out what medical advances have been achieved there.

Relatives of Jessica and Adrian Treen have set up a GoFundMe campaign called Hope for Elora, to support the ongoing cost of preventive therapies not covered by the NDIS and a possible trip to the USA in the future.