Kohen to pave the way for other kids

Holly ThompsonSound Telegraph
Kohen, 4, with mum Jaimie-lee Cripps.
Camera IconKohen, 4, with mum Jaimie-lee Cripps. Credit: Holly Thompson

The parents of a four-year-old boy in Baldivis, who was the first in the State to be diagnosed with a rare genetic condition, are hoping their son’s story can raise awareness.

Kohen Cripps was diagnosed about a year ago with Wiedemann-Steiner syndrome; one of just 10 people diagnosed across Australia, one of about 1000 worldwide and the only so far in Western Australia.

His parents went through three years of testing before finally finding out how to best help their son.

“Kohen was born via emergency C-section because of a very low heart rate and showing signs of distress. We spent a week in hospital because he was having breathing difficulties, suspected sepsis and dilated kidneys,” mum Jaimie-lee Cripps said.

“As a baby he wasn’t gaining weight and was very delayed in all his milestones. At six months of age doctors found he had Patent Ductus Arteriosus, an opening between the two major blood vessels leading from the heart.

“From there doctors noticed his facial features resembled someone that may have a syndrome plus his ‘failure to thrive’, low-muscle tone, feeding difficulties and many other symptoms. The long road of genetic testing began.”

Ms Cripps said test after test came back with no answers. “Kohen has had too many blood tests to count, it took us three years to get a diagnosis, it was really frustrating, they were starting to say we might never know,” she said.

At the age of three, Kohen finally received his diagnosis of Wiedemann-Steiner syndrome after meeting a doctor who knew of the syndrome.

“It was a huge relief to have a label to Kohen’s medical issues so we could have more understanding to help him reach his milestones, but we soon realised how rare Wiedemann-Steiner really is,” Ms Cripps said.

“We have found a Facebook group with adults and kids worldwide with the syndrome and have found more information from them than we have from doctors because of how rare and fairly new this syndrome is.

“We are hoping one day there might be someone else in WA with it who we can connect with, most other cases in Australia seem to be over east.”

Ms Cripps said Kohen needed intensive therapies, attending weekly physiotherapy, speech therapy, occupational therapy and hydrotherapy sessions.

“Kohen is working on independently standing to hopefully one day be able to walk and maybe even run after his siblings,” she said.

“We would love to help spread the word about Wiedemann-Steiner so maybe one day someone else in Perth may have a child going through the same as we did but get answers much quicker.

“We don’t know what the future holds for Kohen as there is very little information regarding this syndrome. But one thing we do know is that he is strong and so determined and we are proud to be his parents.”

Wiedemann-Steiner Syndrome Awareness Day is September 15. Visit wssfoundation.org/ for more information.

Kohen Cripps.
Camera IconKohen Cripps. Credit: Supplied

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