麻豆影视

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鈥檚 progression.

鈥淗e鈥檚 a trooper and he tries, he doesn鈥檛 know there鈥檚 something wrong,鈥� Michael鈥檚 mom Georgia Kumaritakis told CTV鈥檚 Your Morning on Tuesday.

鈥淚t鈥檚 hard to watch him try so hard to just walk or do things that other kids do naturally.鈥�

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

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

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

鈥淗e wasn鈥檛 really reaching for things. He wasn鈥檛 turning to his side. Just basic milestones that you don鈥檛 even think about,鈥� she recalls.

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

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

His family is in a battle against time as gene therapy can stop a disease鈥檚 progression, but it can鈥檛 reverse the effects. Spasticity and neurological delays become more pronounced around the age of three.

鈥淚f the therapy doesn鈥檛 work Michael will most likely be paralyzed from the waist down by age 10,鈥� Michael鈥檚 dad Terry Pirovolakis told CTV鈥檚 Your Morning.

鈥淏y 15 he鈥檒l be paralyzed from the shoulders down, his brain will deteriorate and basically by the time he鈥檚 20鈥�there鈥檚 not that many kids at 20 so we don鈥檛 exactly know.鈥�

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鈥檚 body and several weeks later, the patient鈥檚 body should be able to replicate that gene.

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

鈥淥ur goal is to raise $3 million dollars in one year, to give Michael the chance he deserves to live a full life,鈥� Pirovolakis wrote on the fundraising site .

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.

鈥淢y son is withering away right in front of me,鈥� Pirovolakis wrote.

鈥淚t 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.鈥�

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

鈥淎ll I could think about was 鈥榃e鈥檙e not going to let this happen to him,鈥欌�� said Pirovolakis.

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

鈥淵ou work really hard for the money that you earn,鈥� said Pirovolakis. 鈥淎ll we ask is that, you know, every dollar counts. We鈥檙e not going to get there with a hundred thousand dollars at a time. We鈥檙e going to get there a dollar at a time.鈥�

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.

鈥淔or some patients, a defective or missing gene may have minimal complications, but may have serious life-threatening complications,鈥� Foley told CTV鈥檚 Your Morning.

鈥淎lthough we can treat patients and help them, ultimately replacing that defective gene is our goal and that is gene therapy.鈥�

Less than a thousand people worldwide have received gene therapy, Foley explained, adding that Canada has a 鈥渞ich history鈥� in stem cell research and gene therapy.

鈥淐hanging the genetic code is very tricky,鈥� he said.

鈥淲e need to have vectors to deliver genes into the code and it is enormously expensive.鈥�

--- With files from 麻豆影视 Toronto鈥檚 Pauline Chan