Okanagan mom hoping to make rare genetic condition better known

It’s a genetic condition Sam Michiel knew nothing about when her then 16-month-old baby was diagnosed with it.

Lucas was diagnosed with Phelan McDermid Syndrome, a genetic condition caused by a deletion or change to the structural end of a chromosome.

“Absolutely nothing. Never heard of it,” Michiel told Global News.

“We realized that he was delayed and we weren’t sure what was causing his delay. He couldn’t sit in a sitting position, he would flop over. His head, he couldn’t control it. He was drooling a lot.”

Now 7 years old, the little boy has all kinds of challenges.

“Lucas will always suffer from low muscle tone. He lacks balance and his speech is slurred,” Michiel said.

According to the Phelan McDermid Syndrome Foundation, the condition is so rare that there are only about 2,000 known cases worldwide.

B.C. is among the global communities that have designated Oct. 22 as an awareness day for the syndrome that so few people know about.

It’s a date that Michiel hopes becomes better known.

“So what do I want for October 22?” she asked. “For everyone in the whole world to know what Phelan Mcdermid Syndrome is.”

Michiel said when Lucas was first diagnosed, she reached out for provincial funding to access various therapies that her son needed.

However, she claims she was denied.

“Because it’s so rare, and it wasn’t something they were familiar with, I was denied help and support for Lucas,” Michiel stated.

She said funding did come, but a year-and-a-half later and only because her son was eventually also diagnosed with Autism–something that is well known and funded.

But she doesn’t think it’s right that it takes another diagnosis or illness to get much-needed help.

“People that make bad choices in life, they want to get help, we give them help because we have the incredible government of Canada that does that for us,” said Michiel.

“But he’s born with a rare syndrome and we say no, good luck.”

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She added, “it’s not a choice that he made, so we should help him. We shouldn’t throw him aside.”

Michiel hopes that by sharing her story, it makes the condition better known so that funding will be easily available to those affected.

In an email to Global News, the Ministry of Health said it can’t comment on potential future funding, but said the province does provide programs for special needs children.

To mark Phelan McDermid Syndrome awareness day, some residents in Kelowna will be turning on green lights outside of their homes Thursday evening.

Click here for more information on the genetic condition.

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