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

Sam Michiel is decided to make extra individuals aware of a uncommon genetic situation afflicting her son Lucas.

“What I need is any individual someday to say I’ve heard of this and that may imply the world to me,” Michiel informed World Information.

Eight-year-old Lucas was recognized with Phelan-McDermid Syndrome (PMS) when he was simply 16 months outdated.

Learn extra:
Kelowna mom goes extra mile to help special needs son adjust to school life

Based on the Phelan-McDermid Syndrome Basis, as of December 2020, there have been solely 2,500 individuals worldwide that had reported a PMS prognosis.

PMS is a genetic situation attributable to a deletion or change to the structural finish of a chromosome.

“You’re lacking part of your chromosome,” Michiel stated.

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Because of this, Lucas lives with numerous challenges, together with a scarcity of stability.

Lucas was recognized with Phelan-McDermid Syndrome at 16 months outdated.


“When you by chance fall into him flippantly, he falls,” Michiel stated.

“He drools as a result of he lacks muscle tone and he can’t management it after which his speech remains to be slurred as a result of he lacks hat muscle tone. He’s not writing. He nonetheless scribbles and we don’t know if he ever will.”

Click to play video: 'Ultra rare ‘one-in-eight billion’ genetic disease hits 3 Alberta siblings'

Extremely uncommon ‘one-in-eight billion’ genetic illness hits 3 Alberta siblings

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With Worldwide Phelan-McDermid Syndrome Consciousness Day quick approaching, Michel is as soon as once more gearing as much as assist unfold consciousness.

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With inexperienced being the symbolic color for the syndrome, Michiel has bought greater than 100 inexperienced bandanas this yr.

She is going to hand one out the bandanas to each Grade 3 pupil at Casorso Elementary, the place her son attends Grade 3, in addition to to employees.

She hopes it begins conversations about PMS and what it’s.

Learn extra:
Toronto toddler with rare genetic mutation helps researchers unlock mystery

Final yr, Michiel bought inexperienced lightbulbs and handed them out to anyone who wished to point out their assist on Phelan-McDermid Syndrome Day, which is Oct. 22.

She says a giant motive why it’s so vital to assist increase consciousness is as a result of there may be little to no funding for individuals with such a uncommon situation.

It wasn’t till her son was recognized with autism, a couple of yr after his PMS prognosis, that Lucas turned eligible for assist funding, she stated.

“The second any individual says autism, all people on the earth has heard of autism assist. You get acknowledgement. All people is aware of autism,” she stated.

“The second you say Phelan-McDermid Syndrome, individuals are like, ‘I’ve by no means heard of it.’”

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Michiel stated simply because a situation is uncommon, it doesn’t imply funding shouldn’t be made accessible.

“It doesn’t matter what you’ve been recognized with, all of us matter, and if any individual wants assist, then they need to obtain,” Michiel stated.

“It doesn’t matter, it shouldn’t matter. Simply since you don’t know what it’s, it doesn’t imply my son doesn’t matter.”

Click to play video: 'World Autism Day: a step toward awareness & inclusion'

World Autism Day: a step towards consciousness & inclusion

World Autism Day: a step towards consciousness & inclusion – Apr 6, 2021

© 2021 World Information, a division of Corus Leisure Inc.

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