The family of an 18-month-old boy who suffers from an ultra-rare degenerative disease that could leave him paralyzed by age 10 aims to raise $3 million for experimental gene therapy.

Little Michael from Toronto was diagnosed in April with hereditary spastic paraplegia-50 (SPG50), a genetic defect in which the body fails to produce a certain protein essential for development.

Those diagnosed with SPG50 will lose muscle tone, leading to possible paralysis. There is no cure or treatment, only physiotherapy to try and slow the disease’s progression.

“He’s a trooper and he tries, he doesn’t know there’s something wrong,” Michael’s mom Georgia Kumaritakis told CTV’s Your Morning on Tuesday.

“It’s hard to watch him try so hard to just walk or do things that other kids do naturally.”

Michael is just one of 57 people in the world diagnosed with SPG50.

Spasticity has started in his ankles, so it’s hard for him to walk and his core strength is diminished.

Kumaritakis said her son’s birth was very normal, but a few months later they noticed he was missing certain milestones in his development.

“He wasn’t really reaching for things. He wasn’t turning to his side. Just basic milestones that you don’t even think about,” she recalls.

Through consultations with medical experts at Toronto’s Hospital for Sick Children and across the world, Michael’s parents learned that gene therapy has shown some success with neurodegenerative diseases like SPG50.

Michael’s parents found researchers in the U.S. who have agreed to create a treatment to help replace Michael’s missing gene.

His family is in a battle against time as gene therapy can stop a disease’s progression, but it can’t reverse the effects. Spasticity and neurological delays become more pronounced around the age of three.

“If the therapy doesn’t work Michael will most likely be paralyzed from the waist down by age 10,” Michael’s dad Terry Pirovolakis told CTV’s Your Morning.

“By 15 he’ll be paralyzed from the shoulders down, his brain will deteriorate and basically by the time he’s 20…there’s not that many kids at 20 so we don’t exactly know.”

The gene therapy would use a virus to transport a corrective version of the gene that Michael is lacking.

That virus, with its harmful elements removed, is injected into a patient’s body and several weeks later, the patient’s body should be able to replicate that gene.

In Michael’s case, the hope is that his body will be able to make the protein he is missing.

“Our goal is to raise $3 million dollars in one year, to give Michael the chance he deserves to live a full life,” Pirovolakis wrote on the fundraising site GoFundMe.

Medical scientists estimate that they need a minimum of $3 million to fund a research initiative to develop gene therapy to cure SPG50 and three other similar conditions.

“My son is withering away right in front of me,” Pirovolakis wrote.

“It pains me to know that instead of watching my son grow, learn and blossom into an independent young man, I will have to watch him regress, become wheelchair bound and slowly lose all functionality of his body and mind.”

As of July 23, the GoFundMe page has raised more than $300,000 of its $3 million target.

“All I could think about was ‘We’re not going to let this happen to him,’” said Pirovolakis.

The money collected from the campaign will be put toward initial research, manufacturing of a clinical grade drug and FDA clinical trials.

“You work really hard for the money that you earn,” said Pirovolakis. “All we ask is that, you know, every dollar counts. We’re not going to get there with a hundred thousand dollars at a time. We’re going to get there a dollar at a time.”

Dr. Ronan Foley, a hematologist and professor of molecular medicine at McMaster University in Hamilton, Ont, explained that people have about 20,000 genes each.

“For some patients, a defective or missing gene may have minimal complications, but may have serious life-threatening complications,” Foley told CTV’s Your Morning.

“Although we can treat patients and help them, ultimately replacing that defective gene is our goal and that is gene therapy.”

Less than a thousand people worldwide have received gene therapy, Foley explained, adding that Canada has a “rich history” in stem cell research and gene therapy.

“Changing the genetic code is very tricky,” he said.

“We need to have vectors to deliver genes into the code and it is enormously expensive.”

--- With files from CTV News Toronto’s Pauline Chan