It was June 8, 1993. Amy, her eldest child, was 8 and a half years old.

The appointment with the geneticist was for 2pm but he entered the room at 2.40pm. He carried with him a book and when he opened it, Ms Bobeth was stunned.

“He opened it up and showed it to me and I remember looking down and thinking 'how did he get a picture of Amy in there?' I was shocked. I'll never forget it,” she said.

The child pictured in the book had Cohen syndrome, a rare autosomal recessive disorder that causes intellectual, physical and visual impairment. 

As Ms Bobeth came to learn, those living with Cohen syndrome, of which there is an estimated 600 to 1000 people diagnosed around the world, all look alike.

“He thought Amy was possibly the first, that we knew of, diagnosed with Cohen syndrome in Australia,” Ms Bobeth, from Raymond Terrace, said.

“He printed out this A4 sheet and it just had basics. I just used to take that around to the doctors and show them. That's all the information we had. No one had heard of it.”

It took eight years and many tests to diagnose Amy with Cohen syndrome. On top of being rare, the disorder is symptomatic.

“If it was one thing on its own it would be a lot easier to diagnose but it's such a broad spectrum of symptoms and even the symptoms can vary,” Ms Bobeth said.

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“A lot of kids are legally blind by the time they're 30. Amy is 34 soon and her vision is holding. She has vision impairment but it's holding.

“I think think that's where it can be confusing for doctors. One kid can be completely blind and non-verbal whereas Amy has her vision and is verbal.”

While she lives with a rare disorder, Cohen syndrome has not robbed Amy of her personality.

She is a sunny and happy woman who loves all animals and the colour pink. She enjoys horseback riding, swimming, shopping and riding motorcycles. Amy and her mother are proud members of the Coalfields chapter of the American Motorcycle Club. 

Ms Bobeth and Amy are now looking forward to the new year when they head to Lake Macquarie for what will be the largest gathering of Cohen syndrome families in Australia.

Ten families from around Australia and one from New Zealand – a total of 38 people – will stay at Catalina Lakefront Resort in Rathmines for four days from January 17 for a get together.

For a lot of those attending the ‘Aussie Cohen Retreat’ it will be the first time meeting other Cohen families.  Much of the interaction between Cohen families is done online.

“It's a long and lonely road when it's a rare disorder,” Ms Bobeth said. “There's no face-to-face support group. We have Facebook but it's not quite the same. 

“This is a chance for families to get together and share their experiences, to talk about it to other people who know what it’s like.

“Unless you live it, if you’re a parent of kids with rare genetic disorders, you don’t know what’s it like. It’s nice to be able to connect.”

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