Mum’s hope for Perth boy battling extremely rare condition

Mum’s hope for Perth boy battling extremely rare condition

A Kingsley mom is holding on to hope {that a} journey to the UK in June can present some solutions to a particularly uncommon, progressive and degenerative situation afflicting her eight-year-old son.

Nicole Jamieson says it’s a race towards the clock for Toby, who has Cockayne syndrome, because the median age a toddler with CS survives is simply 8.4 years of age.

“CS is a neurodegenerative illness and it affects the DNA repairing process in his body,” Mrs Jamieson mentioned.

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“Essentially, he ages a lot more rapidly because his body cannot repair any damaged DNA.

“It’s knowing what’s going to happen to your child, knowing that the skills he’s worked so hard to achieve are going to go.

“For example, he’s already lost a fair amount of his vision. He’s severely deaf and most CS children at some point end up wheelchair-bound and they also lose their swallowing.”

Toby Jamieson (8) having a ball at Flipout Joondalup.
Camera IconToby Jamieson (8) having a ball at Flipout Joondalup. Credit: Christopher Tan/PerthNow

The schooling assistant and mom mentioned Toby appeared like another usually creating little one.

“And then we started to notice he was late reaching all of his milestones despite looking like he was growing and happy,” Mrs Jamieson mentioned. “People tried to assure us that he was fine but that gap grew larger and larger as time went on.”

When Toby turned two he had a developmental evaluation, which revealed he had international developmental delays.

“We were sort of in that boat for quite a few years until we were referred to Genetics Services of WA … and then it was a four-year period to actually having the diagnosis of CS,” she mentioned.

Mrs Jamieson’s advocacy work helps extra individuals be taught of CS and the impacts of it.

The former trainer says she suspects there are extra untold tales like Toby on the market throughout the nation.

“I don’t have a CS association here to get in touch with in the same way there is one for say autism or Down syndrome,” she mentioned.

“No one here knows my child and his syndrome.

Source: www.perthnow.com.au