TORONTO -- Donations to help a Canadian boy with an ultra-rare degenerative disease have passed the $1-million mark.
Two-year-old Michael Pirovolakis could be paralyzed by age 10 due to hereditary spastic paraplegia-50 (SPG50), a genetic defect in which the body fails to produce a certain protein essential for development.
The Toronto toddler, diagnosed with the condition in April, is one of just 60 people in the world with SPG50.
Those with SPG50 gradually lose muscle tone, leading to possible paralysis. There is no cure or treatment, only physiotherapy to try and slow the disease鈥檚 progression.
Michael鈥檚 dad Terry Pirovolakis said there was disbelief when donations passed the $1-million mark on the way to an ambitious $3 million target to find a treatment for Michael and other children.
鈥淲e didn鈥檛 think anyone would donate, we didn鈥檛 think we鈥檇 get $400,000,鈥� Terry told CTVNews.ca.
Michael was due on Christmas Day 2017, but arrived on December 17 as an 鈥渆arly Christmas gift鈥� his dad wrote on the .
He鈥檚 a happy kid, according to his father, but isn鈥檛 speaking yet and suffers other developmental delays due to SPG50. Spasticity has started in his ankles, so it鈥檚 hard for him to walk and his core strength is diminished.
鈥淪cared, alone and full of sadness we knew that we could not stand down and watch this terrible disease rob our boy of a chance to live the life that he deserves,鈥� Terry wrote in a Boxing Day message on GoFundMe.
鈥淭he amount of support, love and willingness to help reach our $3 million goal has been unbelievable.鈥�
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 in July.
鈥淚t鈥檚 hard to watch him try so hard to just walk or do things that other kids do naturally.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.
鈥淚f the therapy doesn鈥檛 work Michael will most likely be paralyzed from the waist down by age 10,鈥� Terry 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here鈥檚 not that many kids at 20 so we don鈥檛 exactly know.鈥�
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.
B three universities and hospitals are working on it, including the University of Texas Southwestern Medical Center, which is building the gene.
Boston Children鈥檚 Hospital is using Michael鈥檚 skin cells for drug screening and to test the gene therapy.
And the science behind the therapy comes from the University of Cambridge in England.
鈥淢y son is withering away right in front of me,鈥� Terry wrote on the GoFundMe page.
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�
He explained that his son has all kinds of therapy seven days a week, most of it not publicly funded, costing the family between $3,000 and $5,000 a month.
Of the $3 million target, one million will be spent on building the cure. The second million is planned for creating enough of the cure for seven to 20 children and the last million is for approval from the U.S. Food and Drug Administration.
鈥淚f the total is not raised, there won鈥檛 be enough to cover the process,鈥� Terry said.
鈥淲ith an army of people behind us we will cure Michael.鈥�
Terry thanked all those who have raised money through a long list of fundraising events including golf tours, bake sales and a danceathon.
