Why Western Australian girl has had 40 medical procedures

A seven-year-old girl has had more than 40 medical procedures, and now her family are sharing their story to help others.

A seven-year-old girl has had more than 40 surgeries in her lifetime because of a rare genetic condition.

Rachel and Russ Smith were in the 20-week scan for their unborn daughter — Imi — when they picked up that she had fluid on her brain. She also wasn’t growing at the expected rate.

Testing showed that she didn’t have any common genetic disorders but that she may have a rare one.

“It was pretty devastating not really knowing what a genetic disorder was or anything like that,” Rachel told news.com.au.

“And of course, there is that ‘is my baby going to be OK?’. We were in a bit of disbelief as well but you just have to have trust in the medical system that they will be there to guide you through everything and that everything’s going to be OK in the end.”

Rachel and Russ Smith were in the 20 week scan for their unborn daughter — Imi — when they picked up that she had fluid on her brain. Picture: Supplied

Six months after Imi was born, the trio underwent genetic testing and it was discovered the baby had Fanconi Anaemia (FA) — a rare condition that impacts your bone marrow and many other parts of your body.

People with the genetic condition have an increased risk of developing blood disorders and certain types of cancer, with FA impacting the organs and a person’s appearance. It impacts one in 136,000 newborns.

The news was broken to Rachel over the phone while she was sitting with a nurse. Immediately, she started trying to find other people on social media with FA and researching the condition to find out what was going on and what the future held for them.

“With Imi, it basically affects all of her body. She’s very fatigued. There’s a very short lifespan. She’s been through a lot of hospital time. A lot of blood tests, a lot of doctors, lots of visits to Perth, which is about two-and-a-half hours from us. She’s missed a lot of school,” Ms Smith said.

She has a rare genetic disorder. Picture: Supplied

“She’s got intellectual disabilities, she suffers from hearing loss. She’s got a disability in her hands as well, and has to have two hand surgeries and removal of a thumb. She’s had hip surgery. She’s a lot different to kids her age. She’s mentally a few years younger and doesn’t get to socialise as well because her immune system is impacted.”

Imi has had over 40 procedures, including brain surgery and a bone marrow transfer.

But, somehow Imi always seems to find the bright side of things with her parents describing her as a “happy little Vegemite” with a big smile and even bigger heart.

“It’s not the easiest of lives but you just get on with it. We don’t know anything else. As long as she’s happy, we’re happy,” Ms Smith said.

Starlight has been a big help for the family. Picture: Supplied.

Her Starlight wish saw her meet a dolphin. Picture: Supplied

One of Imi’s favourite places is the Starlight Room. Her mum said has a unique way of calming and comforting Imi — particularly when she needs to get injections. It’s also one of the rare chances she gets to socialise with other kids around her age without judgment.

“It’s nice to be in our own little environment with people going through similar sort of situations,” Rachel said.

Imi and the family were also granted a Starlight Wish to have her birthday on the Gold Coast, with the charity allowing the family to just be a family and have fun.

Rachel said it was the best thing to happen to their family. Picture: Supplied

The itinerary was packed with fun-filled activities. Imi made a friend who she video calls often, but her absolute highlight was getting to have breakfast with a dolphin — something she still talks about.

“It was the best thing that could have ever happened to us and let us be a family for once and not have to think about appointments and really just enjoy life and breathe,” Ms Smith said.

The family is sharing their story in a bid to bring awareness to the work that Starlight does.

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Originally published as Why Western Australian girl has had 40 medical procedures