Leanne Collins and daughters Abbie and Ashleigh, who has the syndrome, will head to Lake Macquarie this month to gather with others who live with the genetic disorder.

Mrs Collins hopes that, through networking and getting the word out, people will get answers sooner than her family did.

Although first described in 1973, there are few known cases worldwide.

“Both parents have to be carriers of the gene and there’s then a one-in-four chance of having a child with Cohen syndrome,” Mrs Collins said.

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“My geneticist told me there’s a better chance of winning the lotto, but it happens.

“There are only 600 to 1000 in the world, so my aim is just to get it out there because it’s really hard to diagnose; doctors haven’t seen it.”

It affects motor skills, mental development and behaviour; and symptoms can include microcephaly, childhood hypotonia or floppiness, excessive clumsiness and progressive shortsightnedness.

Mrs Collins said her daughter wasn’t diagnosed until she was 14 years old, and only because people with the condition tend to share distinctive facial features.

An eye doctor said she believed Miss Collins had the syndrome, and it was confirmed by a geneticist.

Mrs Collins said “the label helps” because it allowed her to research it, and make contact with the few other people worldwide who share her family’s experiences.

“To have that diagnosis connects us, and now we have contacts all over the world,” she said.

Her family can gain information as well as share it.

“Sometimes the smallest thing can help a distraught mother out, because it’s very distressing as they’re young.”

Her mum said Miss Collins had lost most of her eyesight in the past 18 months and was almost non-verbal, but the NDIS had allowed her to live “such a wonderful life”.

“She participates within the Tamworth whole community and also participates in the disability sector as well, so she gets the best of both worlds,” Mrs Collins said.

“She’s got so many friends now and people know her, she attends line dancing, gym and swims … 

“And she’s 26, why shouldn’t she? She should be out there enjoying life, not sitting at home on the couch with mum.”

The Cohen family retreat will get 10 families from Australia and New Zealand together at Catalina Lakefront Resort in Rathmines for four days this month.