Family fundraises to get face time with those who share rare genetic syndrome

In February 2013, Whitehorse's Alison Rix and James Rough learned that their son Gavin had a genetic disease so rare he was the 24th person on the planet to be diagnosed with it.

In February 2013, Whitehorse’s Alison Rix and James Rough learned that their son Gavin had a genetic disease so rare he was the 24th person on the planet to be diagnosed with it.

“My mom is a nurse, I have learned to not freak out,” Rix said.

When she got the call from the geneticist down in Vancouver, she told her husband to look it up.

He searched online for information about Nicolaides-Baraitser Syndrome, the syndrome Gavin was diagnosed with.

He didn’t find much, so he looked some more. And some more.

“There was nothing, expect for a two-page report,” remembers Rough.

The report mainly stated some of the features of NCBRS: long fingers and toes, sparse hair, development delays, epilepsy.

“There was nothing about life expectancy, quality of life,” said Rough.

Since then the family has found others affected by the syndrome thanks to a Facebook page. It has allowed them to share information about the effectiveness of certain medications, and also to see how some older children have been able to deal with the condition. One just graduated from high school.

There is still very little known about the disease, which was discovered in 1993 and named after the two doctors who made the find. The syndrome is caused by a non-hereditary gene mutation.

The Rough family wants to travel to Toronto next month to attend the first-ever Canadian conference on the topic. This would let them meet face-to-face with other affected families and a geneticist. There are four children in Canada who have been diagnosed with the syndrome, and a couple more in the U.S.

But the Roughs need a little help to get there. They’ve set up an online fundraising campaign to pay for the plane tickets.

Times can be tough for the family, as both Alison and James work and Gavin has four siblings, but they say services in the Yukon are exceptional.

“I won’t move out of the Yukon because of the resources we get here, and we get them for free,” said Rix.

Those supports include respite care. It provides families with children with disabilities with a baby sitter, allowing parents to run errands or simply take a break.

While Gavin is a cheerful kid, he also lives a worry-free life, which can be a problem sometimes, especially around cars.

“I call him my little runner, he’ll just take off and go,” said Rough, laughing.

But “that’s our saving grace, he is always a happy boy,” Rough added. “And he is a total jokester!”

At daycare or outside of the home he needs to be constantly watched.

His parents are especially worried when he has seizures at the daycare – a common symptom for people with NCBRS.

“When he has a seizure it’s definitely heart-breaking,” said Rix.

Every call from the daycare puts them on high alert.

During a recent seizure Gavin fell on a book case and opened a one-inch gash on his forehead.

The family also has to explain to each doctor Gavin sees what the syndrome is.

“Most of the doctors look at you and go like ‘what?’,” said Rix.

“We know more about NCBRS than any doctor in town,” added Rough.

Yvonne Benoit, a local Yukoner who heard about Gavin, is holding a silent auction to help the Roughs with their fundraising efforts on June 25 at Jarvis Street Saloon. Search “Sing for Gavin Fundraiser” on Facebook to find the event details.

If the family tops their fundraising efforts, they say they’ll use that money to help other families attend the conference.

For more on the Rough family’s fundraising campaign, go to gofundme.com/p9n590.

Contact Pierre Chauvin at pierre.chauvin@yukon-news.com

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