Toronto boy with rare disease inspires ambitious research fund
Published Thursday, June 27, 2019 2:54PM EDT
Last Updated Thursday, June 27, 2019 9:00PM EDT
A Toronto family has begun a campaign to raise $3 million to help their 18-month-old son who has a rare degenerative disease.
Georgia Kumaritakis said that 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.
This past April, he was diagnosed 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.
SPG50 also impacts cognitive abilities. There is no cure or treatment, only physiotherapy to try and slow the disease’s progression.
Kumaritakis’s son Michael is just one of 57 people in the world diagnosed with the disease.
“All I could think about was ‘We’re not going to let this happen to him’,” said Michael’s dad, Terry Pirovolakis.
Through consultations with various medical experts at the Hospital for Sick Children and across the United States, the parents learned the gene therapy has shown some success with neurodegenerative diseases like SPG50.
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 should be able to replicate that gene themselves.
In Michael’s case, the hope is that his body will be able to make the protein he is missing.
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.
The family has decided to try and help raise that money using a GoFundMe campaign.
“My son is withering away right in front of me,” Pirovolakis wrote on the GoFundMe page. “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. We need your help to change his future.”
The money collected from the campaign will be put toward initial research, manufacturing of a clinical grade drug and FDA clinical trials.
As of Thursday, the family’s GoFundMe page has already raised more than $48,000. They hope to reach the $3 million mark in one year.
Pirovolakis said he is grateful for their strong start, but time is of the essence. Gene therapy can stop a disease’s progression, but it can’t reverse the effects. Finding a cure for Michael before his condition deteriorates further is essential, he said.
Spasticity and neurological delays become more pronounced around the age of three.
“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.”