ALASKA HIGHWAY NEWS THURSDAY, APRIL 6, 2023 | VOL. 79 NO. 14
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SKY KEEPERS Nine women from Blueberry River are now certified drone operators
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Fort St. John Huskies beat Grande Prairie in third overtime to win NWJHL trophy
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OFF TO WORLDS — Nine dancers from the Watt School of Irish Dance in Fort St. John are in Montreal this week showcasing their talents at this year’s Oireachtas Rince na Cruinne, the 2023 World Irish Dancing Championships. Attending the competition are Paisley Gibbons, Kayleigh Fowler, Reese Gibbons, Emalee Chapple, Lauryn Campbell, Naia Gibbons, Hillary Campbell, Melodié Kemp, and McKinley Pomeroy. Turn to A2 to read more
Uncovering the cause of Avelyn’s autism Hanna Petersen hpetersen@pgcitizen.ca
NLC VISITS JAPAN Japan visit brings two MOUs, renewed relationships NEWS h A8
GASLINK UPDATE Pipeline 85.5% complete, employing nearly 5,500 workers NEWS h A12 $1.50 INCL. GST
When Kim Strandberg’s daughter Avelyn was just shy of a year old, she knew something was amiss. Avelyn wasn’t developing the same way as her three older boys and so she spent the next 13 years chasing all sorts of rabbit holes trying to figure out what underlying issue her daughter may have. Avelyn, who is non-verbal, received an autism diagnosis at the age of three, although Strandberg says it was understood that she had autism either in conjunction with someone else, or as part of a bigger issue. “Ava and I have been through the gambit at B.C. Children’s Hospital,” said Strandberg. “I followed everything that I could, but I never got an answer as to what my child has,” she said, adding she was told science was progressing at a rapid rate and to wait for answers. “What science has been able to do now is whole exome sequencing.” Exome sequencing is a sci-
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Kim Strandberg and her daughter Avelyn in their home in Fort St. John.
entific technique that reads important pieces of a person’s genetic code to understand symptoms of a disease. And because everything else the family had tested for came back negative, Strandberg was approved by MSP to do whole exome sequencing, which was conducted through blood tests at a lab in Finland. The report came back stating that Avelyn had a mutation in what’s known as the MAST1 gene, essential for brain development. Her mutation is
considered ‘de novo’, meaning it wasn’t inherited from either her mother or father. MAST-1 is a gene involved in encoding microtubuleassociated protein that is expressed in neurons in the developing brain. It’s one of 20,000 different genes that make up our genetic information. “The science is expanding so quickly but we don’t always know what it means,” said Strandberg, adding that although a mutation with this
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gene has been identified, science hasn’t been able to figure out how this gene affects different abilities in the brain. Strandberg says there’s only nine other people in the world, that she’s aware of, who have been found to have a mutation in the MAST-1 area. However, Avelyn is the only one of the recorded cases to have a deletion at the MAST-1 site rather than a duplication. “The report will come back and say it’s of unknown clinical significance, which means just wait until science catches up, and I am not prepared to do that,” said Strandberg. A variant of uncertain significance is a change in a gene where there’s been no other cases reported with that specific spelling error or genetic variant. “Part of the issue in some of this new testing is that we’re learning as we’re going. It is not always possible to give a complete answer at any given time, depending on what the information is,” said David Koehn, genetic counsellor at the Provincial Medical Genetics Program. Continued on A6