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.
“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.”
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.
“There needs to be a multidisciplinary approach and a multidisciplinary team who actually have the time to share information and to find that bit of research.
“I don’t expect them to be experts on this, but it’d be helpful if they could work together to find out and be in touch with people overseas who do know this syndrome.”
And so to hunt that piece of information, the Jamiesons are making the journey abroad to attend the annual Amy and Friends worldwide convention in Blackpool from June 9 to 11.
“It’s absolutely all about hope … because there’s no one here who can really tell me what’s going on with Toby or how best to support him,” Mrs Jamieson mentioned.
“I’ve already received advice from other parents … one was to get onto cochlear implants now as when he goes deaf, it can literally be overnight.
“Fortunately we did get that ball rolling because his hearing has deteriorated into the severely deaf category. Information like that only people who are in this world know … and it’s really important to have.”
Family, pals and companies within the northern suburbs have chipped in to assist make the journey doable for the Jamiesons.
Flip Out Joondalup, an indoor journey park for youths, is internet hosting a fundraiser on May 21 with half of the proceeds going in direction of the household’s journey bills.
“I’ve got children myself, a seven-year-old and a four-year-old, so obviously it resonates with anybody who is a parent,” Flip Out Joondalup proprietor David Cross mentioned.
“We’re trying to get 120 people buying tickets to the event, if possible. I think people do want to reach out donate and obviously help out a family in need.”
Good good friend and mom of two Lauren Bridges has been a driving pressure behind the occasion.
Both of her boys, aged six and 7, have quite a few disabilities and attend Creaney Education Support in Kingsley.
“We know the family via school; Lachie has been in Toby’s class for a couple of years now and they’ve developed a really lovely friendship,” Mrs Bridges mentioned.
“My Lachie is nonverbal and has limited language, like Toby. They communicate in their own way and they’ve developed a really lovely friendship.”
While the time Toby has left together with his household is unknown, he’s persevering with to smile via each impediment.
“He’s remarkably resilient, I think because he’s never known life to be any other way,” Mrs Jamieson mentioned.
“He loves people, very energetic and would just get on with the lot.
“I think it’s harder for a parent to watch than what it might be for him. It breaks your heart to think that the things that he loves now, which is socialising and going out and playing with his friends … that he may not be able to do those at some point.”
You can assist the household by donating to their GoFundMe right here.
Source: www.perthnow.com.au
