Bosley family plans trip to US clinic to treat Harper, one of just 150 Australians with Bardet-Biedl Syndrome

The Bosley family needs $35,000 to fund their trip to a clinic in the USA — the only clinic in the world specialising in the rare syndrome Bardet Biedl.

Parents Carmen and Chris with Harper, 4, who has been diagnosed with Bardet-Biedl Syndrome. Picture: Tom Huntley

• Donate to the gofundme for Harper here

Four-year-old Harper Bosley is like any other bright, bubbly, active little girl.

She loves riding her bike and scooter, swimming and craft. But she is also one of 150 Australians living with the rare genetic disorder, Bardet-Biedl Syndrome.

Harper’s speech and walking were delayed and she was born polydactyl (with extra fingers and toes).

But her father, Chris, said the delayed development was initially brushed off by doctors.

“At 22 months she started walking, but she was our first so we didn’t have anything to measure it against,” Mr Bosley said.

It wasn’t until Harper was three and experiencing unexplained weight gain that Mr Bosley and his wife Carmen began searching for answers.

The Morphettville family took Harper to the Women’s and Children’s Hospital for genetic testing, as advised by their paediatrician, and received the diagnosis in July.

Harper Bosley at six months old. Picture supplied by family.

“I was heartbroken for Harper … the future that I had in my head for her was going to look so different,” Mrs Bosley said.

The incurable syndrome affects one in 100,000 people in South Australia, and is defined by vision loss and blindness, obesity, learning difficulties, extra fingers or toes, and kidney abnormalities. Mr Bosley said Harper was already showing signs of night blindness.

“One of the shocking things for us was when they told us (of her diagnosis) is that we were going to be the experts on it,” he said.

“It was because a lot of doctors wouldn’t know what it is.”

The family plans to travel to the US in October for a four-day workshop at the Marshfield Clinic, in Wisconsin, which specialises in the disorder.

The clinic can assess where Harper sits on the spectrum so appropriate preventive measures can be but in place that may limit her from risks that could worsen her condition.

The treatment and assessment will cost up to $US35,000 and is not covered by health insurance due to it being in the US.

More than $40,000AUD has been raised on a gofundme page to support Harper’s trip to the US and ongoing treatment. Picture: Tom Huntley

When Associate Professor Christopher Barnett, Head of the Women’s and Children’s Paediatric and Reproductive Genetics Unit recommended the trip to Marshfield, the Bosley family resolved to do whatever it took to get her there.

“That was when we decided nothing would get in the way of going … I wouldn’t ever be able to put a dollar figure on Harper’s health,” Mr Bosley told The Advertiser.

Dr Barnett said visiting the clinic will be good for Harper’s long term journey because the analysis can be done there, and the appropriate therapy performed here in Adelaide.

More than $40,000AUD has been raised on a GoFundMe page, set up by a family friend, to help fund Harper’s trip to the US and ongoing treatment.

Mr Bosley said Harper’s brothers Cooper, 2, and Spencer, six months, are in awe of their big sister.

Donate to Harper’s cause at www.gofundme.com/f/byj77j-hope-for-harper

Originally published as Bosley family plans trip to US clinic to treat Harper, one of just 150 Australians with Bardet-Biedl Syndrome