Sam Michiel is determined to raise awareness about a rare genetic condition afflicting her son Lucas.
“What I want is someone to one day say that I’ve heard of this and that it will mean a lot to me,” Michiel told Global News.
Eight-year-old Lucas was diagnosed with Phelan-McDermid syndrome (PMS) when he was only 16 months old.
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According to the Phelan-McDermid Syndrome Foundation, as of December 2020, there were only 2,500 people worldwide who had reported a diagnosis of PMS.
Premenstrual syndrome is a genetic condition caused by a deletion or change in the structural end of a chromosome.
“You are missing a part of your chromosome,” Michiel said.
As a result, Lucas lives with a number of challenges, including a lack of balance.
“If you accidentally fall on him lightly, he falls over,” Michiel said.
“He drools because he lacks muscle tone and can’t control it and then his speech is still fuzzy because he lacks muscle tone in the hat. He is 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 preparing once again to help spread awareness.
Since green is the symbolic color of the syndrome, Michiel has bought more than 100 green handkerchiefs this year.
She will deliver one of the tissues to each third grade student at Casorso Elementary School, where her son attends third grade, as well as the staff.
She hopes it will start conversations about PMS and what it is.
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Last year, Michiel bought green light bulbs and gave them to anyone who wanted to show their support on Phelan-McDermid Syndrome Day, which is October 22.
She says a big reason helping raise awareness is so important is because there is little to no funding for people with such a rare disease.
It wasn’t until his son was diagnosed with autism, about a year after his PMS diagnosis, that Lucas became eligible for support funding, he said.
“The second someone says autism, everyone in the world has heard of support for autism. You get recognition. Everyone knows about autism, ”he said.
“The moment you say Phelan-McDermid syndrome, people say, ‘I’ve never heard of it.’
Michiel said that just because a condition is rare doesn’t mean that funding shouldn’t be available.
“It doesn’t matter what you’ve been diagnosed with, we all matter, and if someone needs support, they should get it,” Michiel said.
“It doesn’t matter, it shouldn’t matter. Just because I don’t know what it is doesn’t mean my son doesn’t matter. “
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