Ruby's Story

“Ruby had an asymmetrical body; her right leg and foot was longer than the left side. She also almost resembled an alien. She had a tiny body and a large head,” Bec said.

At Ruby’s six-monthly check-up, the doctor suggested she may have Russell Silver Syndrome (RSS), a genetic disorder in which a person fails to grow and gain weight at the expected rate. There’s also a risk of delayed development and learning disabilities. But the suggestion little Ruby was born with RSS was dismissed at her yearly check-up, as she had grown some centimetres since her last doctors visit.

However, one and a half years later, Ruby was officially diagnosed with Russell Silver Syndrome.
 

“It was a mother’s intuition; I knew something was different with my baby girl. But there was next to no information on RSS, so the diagnosis wasn’t necessarily a relief because a lot of doctors haven’t heard of the syndrome,” Bec said.

With Ruby taking so much of her mother’s attention over the last few years, it wasn’t until recently Bec noticed Ruby’s twin brother, Riley, might be struggling with his own battle. While he hasn’t been officially diagnosed, Bec says Riley is showing signs of Autism.

“I beat myself up about it for a while. I trying to focus on both my children at the same time, but Ruby required so much attention, I missed his issues.”

Bec moved her children to Sydney to be closer to family, but says meeting with doctors who know about RSS has proven to be an uphill battle.

“I’ve communicated with several Australian families with children suffering from RSS who I’ve come into contact with via Facebook, and even created my own awareness page, but there just isn’t enough information out there. That has been my biggest problem.”

Ruby continues to receive regular doctor’s check-ups, but has trouble walking fast due to her asymmetrical body. She may require leg lengthening surgery one day, but so far she has defied the odds – growing 8 centimetres in six months. This is an indication she might not need growth hormones, but Bec says it will all become clearer in time.

Bec describes her only daughter has a “happy-go-lucky child who can be shy around people she doesn’t know”. Ruby is aware she’s smaller than other kids, and often makes friends with those who are smaller than her. She’s on track to start school next year, but Bec says her daughter will be monitored closely this year to confirm she’s ready. 

“She’s a delight. I often have people coming up to me to tell me how cute she is.”

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