Toronto family tries to raise $3M to treat son’s rare genetic disorder

It’s a desperate race against time and a race toward hope. Terry and Georgia Pirovolakis are trying to save their son’s life, trying to find a cure that doesn’t exist. They’re determined to raise at least $3 million to fund an experimental trial in the U.S.

Michael is 18 months old and his doctors say he is the only child in Canada diagnosed with SPG50, a rare genetic disorder that threatens the toddler’s ability to speak, walk or even breathe, all in a few short years.

Michael’s mother Georgia Pirovolakis said he was a healthy, happy baby but she and her husband started to notice he wasn’t meeting his milestones, wasn’t developing at the same rate his siblings had.

The energetic toddler can’t walk despite an obvious desire to move around. He smiles and laughs and babbles, but hasn’t said his first word. He’s healthy, until he gets a fever and has a seizure, which sometimes takes hours for hospital staff to address.

Genetic testing at Toronto’s Sick Kids Hospital revealed the devastating diagnosis in April.

“They said to us you know he will never reach the level that you want him to reach, like he will probably never speak,” Georgia Pirovolakis said, choking back tears. “He will probably never develop normally mentally. He will probably be in a wheelchair.”

‘We just cried’

Michael’s father said it was the darkest moment of his life.

“Once they told us and it was like a fog was over our eyes,” said Terry Pirovolakis. “It was like you were wearing sunglasses with the tint on them that you couldn’t even see out of it. We just came home and just curled into balls and just cried.”

The culprit is a missing gene. The only hope: gene therapy that in theory could replace it. But there is no proven treatment for Michael’s disease. There are only 57 known cases in the world, including Michael, according to pediatric neurologists at Boston Children’s Hospital.

The disorder is so rare there is little financial incentive for pharmaceutical companies or governments to fund research to find a treatment.

After scouring the internet for any shred of hope, it became clear it was up to Michael’s parents to create their own.

“I said, ‘There’s no way we’re going to accept this,'” said Terry Pirovolakis, his red-rimmed eyes brimming with tears. “There was no sit back and watch him degrade. There was just go forward and give him the best chance at life that we could.”

The clock is ticking

The clock is ticking and the disease isn’t waiting.

Fuelled by fear, Michael’s parents called hundreds of doctors, sent thousands of emails and they didn’t stop until they found a team of researchers in Dallas willing to try to create a treatment that would replace Michael’s missing gene. Gene therapy that may halt, maybe even reverse the degeneration that has already set in.

Dr. Berge Minassian is leading the team at UT Southwestern Medical Centre in Texas, one of a handful of research facilities in the world creating customized treatments for rare genetic disorders.

A pediatric neurologist, Dr. Minassian left Toronto’s Sick Kids hospital so he could devote the rest of his career to helping kids like Michael.

“I think losing one’s child is probably the worst thing that can happen to anyone,” Minassian said. “And so these parents have hope that we can make things better that we can stabilize the condition, in some cases that we could even cure them.”

In Michael’s case, gene therapy sounds simple and Minassian believes it holds real promise. He and his team can potentially produce a virus that would transport the missing gene through Michael’s spinal fluid and into his brain. It would be the first treatment of its kind in the world.

“Replacing that one gene and whatever percentage of his brain cells, we hope will improve some of these aspects, maybe he’ll be able to walk, have less seizures, and not degenerate as he is doing,” said Dr. Minassian. “The real answer is we do not know. He will be one of the first, if not the first, persons, who have ever had this disease to have the gene replaced.”

It’s not a guarantee, but it’s hope at a staggering cost. A clinical trial in the U.S. would cost at least $3 million, money the family has to raise itself. They’ve already cashed in their savings and remortgaged their home to finance the first phase of the trial. But they need so much more.

Community fundraising

They’ve started a GoFundMe page and their local communities are organizing fundraisers on Michael’s behalf. One neighbour even came knocking on their door with a jar of coins.

The Pirovolakis are grateful for every cent.

“I’m blown away,” said Terry Pirovolakis. “We never expected anybody to help us. We thought we were going to be alone in this journey …[then] one person talks to another and now we have all these amazing people helping us. I can’t even express our gratitude. It’s unbelievable.”

It is about saving one child’s life and yet it could potentially help others. The assistance the community is providing won’t just be for a treatment for Michael’s disorder. The research has the potential to make strides in helping other genetic disorders in children, and even in advancing research for more complex brain diseases in adults, including Alzheimers, said Minassian.

All the work in gene therapy for children builds on potential future treatments, he said.

“Imagine a time when someone has Alzheimer’s disease, and we can kind of predict that and we know that let’s say these 12 genes are responsible and if we break that set of 12 and fixed three of them they won’t have Alzheimer’s anymore,” he said.

“What we are learning now with these little children with their horrible diseases is to reach a point where we can get into adult patients and help them.”

In the end, the real enemy is time. Even if they raise all the money, it will be at least 18 months before a treatment is approved by the U.S Food and Drug Administration. Michael’s parents are holding on to the hope that it won’t be too late.

“It’s extremely urgent,” said Terry Pirovolakis. “If we don’t get the funds all that’s going to mean is that Michael will start losing more of his legs. He will become paralyzed. It will reach up to his arms and further on. So it’s really, it’s a race against time.”

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