Campbell River baby diagnosed with rare, incurable disease goes in for surgery
VICTORIA -- A Campbell River family has been living in and out of hospitals for over a year after their 18-month-old son was diagnosed with a rare disease.
Sawyer Jones was born in June 2018 and his parents tell CTV News Vancouver Island his first week of life was “great.” But shortly after, they noticed his eyes were very shiny and were told by doctors he had cataracts. It was just the start of a very difficult journey for the family.
“It just seemed like a little bump in the road,” said his mother Crystal Jones.
Sawyer kept getting sick and the family decided to get his blood tested. They were told he was diagnosed with an incurable genetic disorder called Huppke-Brendel syndrome.
“He will have a limited life. They all die between 22 months and six years,” said Crystal.
“It was devastating to find out that he was diagnosed with something they can’t help him. It was almost better when we didn’t know.”
Crystal described the disorder as a copper deficiency and his body doesn’t metabolize copper very well.
“He has low muscle tone, his eyes, hearing,” she said. “His organs are affected.”
Sawyer’s dad said he was shocked when he heard the diagnosis and thought the doctors were wrong.
“There is no way my kid could have anything like that… there is no way,” said David Jones.
The Jones family, including two more young boys, has been airlifted multiple times from their home in Campbell River to hospitals in Vancouver and Victoria. Sawyer fell ill 10 days ago, and his parents say this is the worst he’s been.
“It’s really hard to watch your little guy sit there and fight away and he has been through many battles but this one seems to be the worst so far,” said David.
On Tuesday, he will go in for surgery to place a tube into his stomach so he can eat more easily.
“I am on the verge of falling apart and I am trying to hold it together for my whole family and it is tough,” said David. “It’s really tough.”
David works as a driver for a logging company in the forestry industry and wanted to go back to work, but can’t because of ongoing strikes.
“I’ve never been one to ask for a handout, but this is the time I think,” he said. “Every dollar we spend is to getting Sawyer some health benefits.”
Sawyer’s aunt created a GoFundMe campaign to help the family.
“I don’t even know how they are handling it,” said Nicky Jones. “To be able to take some of the financial pressure off them so they can just be there for him and love him and take care of the rest of the family.”
Both Crystal and David say they want to bring Sawyer home.
“I want to cuddle him. I haven’t been able to hold him in 12 days… I just want to snuggle him up,” said Crystal.