Kelowna woman on a mission to raise awareness about son’s rare genetic condition

Sam Michiel is determined to make more people aware about a rare genetic condition afflicting her son Lucas.

“What I want is somebody one day to say I’ve heard of this and that will mean the world to me,” Michiel told Global News.

Eight-year-old Lucas was diagnosed with Phelan-McDermid Syndrome (PMS) when he was just 16 months old.

According to the Phelan-McDermid Syndrome Foundation, as of December 2020, there were only 2,500 people worldwide that had reported a PMS diagnosis.

PMS is a genetic condition caused by a deletion or change to the structural end of a chromosome.

“You’re missing a part of your chromosome,” Michiel said.

As a result, Lucas lives with a number of challenges, including a lack of balance.

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“If you accidentally fall into him lightly, he falls,” Michiel said.

“He drools because he lacks muscle tone and he can’t control it and then his speech is still slurred because he lacks hat muscle tone. He’s not writing. He still scribbles and we don’t know if he ever will.”

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With International Phelan-McDermid Syndrome Awareness Day fast approaching, Michel is once again gearing up to help spread awareness.

With green being the symbolic colour for the syndrome, Michiel has purchased more than 100 green bandanas this year.

She will hand one out the bandanas to every Grade 3 student at Casorso Elementary, where her son attends Grade 3, as well as to staff.

She hopes it starts conversations about PMS and what it is.

Last year, Michiel purchased green lightbulbs and handed them out to anybody who wanted to show their support on Phelan-McDermid Syndrome Day, which is Oct. 22.

She says a big reason why it’s so important to help raise awareness is because there is little to no funding for people with such a rare condition.

It wasn’t until her son was diagnosed with autism, about a year after his PMS diagnosis, that Lucas became eligible for support funding, she said.

“The second somebody says autism, everybody in the world has heard of autism support. You get acknowledgement. Everybody knows autism,” she said.

“The second you say Phelan-McDermid Syndrome, people are like, ‘I’ve never heard of it.'”

Michiel said just because a condition is rare, it doesn’t mean funding should not be made available.

“It doesn’t matter what you’ve been diagnosed with, we all matter, and if somebody needs support, then they should receive,” Michiel said.

“It doesn’t matter, it shouldn’t matter. Just because you don’t know what it is, it doesn’t mean my son doesn’t matter.”

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