Race against time for family of toddler with ultra-rare disease, whose only chance at life costs $3 million – National Post

When Michael Pirovolakis was born eight days before Christmas in 2017, his green eyes glowed bright like two snow globes.

He had 10 fingers, 10 toes and a full head of hair matted to his head. Michael was a cooing, crying, healthy baby boy.

What else could we ask for, said his father, Terry.

Terry, 39, and his wife Georgia, 41, became a family of five, tucked away in a suburb east of Torontos core.

Michael grew like any ordinary infant, his peanut-coloured hair becoming longer and curlier by the day.

But six months into his life, worry arrived.

Terry says he and Georgia looked at photos of Michaels siblings and began to realize he wasnt reaching the same developmental milestones. Michael wasnt using his hands, didnt crawl and hadnt formed words.

That observation led the family down countless hospital hallways, into waiting rooms and handshakes with many experts in white lab coats.

First, pediatricians noticed Michaels smaller head and a floppiness arising from missing muscle tone. Physiotherapy should have solved the problem, but there was no sign of improvement two months later.

Then, specialists at Torontos Sick Kids Hospital suspected Michael may have contracted the Zika virus from his fathers travels in South America and Puerto Rico for work.

It was pretty scary because they told us he might be blind and deaf, Terry said.

It was a false alarm, but the tests didnt stop. A neurologist said although it was nothing to worry about, the white matter that moves neural signals across Michaels brain was underdeveloped.

It was another dead end, but then came genetic testing and when the results arrived this spring, they contained the answer to every question keeping Michaels parents up at night.

April 2 was doomsday, Terry said.

It was the worst day of my life I saw on the doctors face something was wrong, so they sat us down and told us what it was. It was just an acronym, but then we started reading words like paralyzed, quadriplegic, limited brain function. I honestly dont even know how we got home.

We curled up in a ball and cried for a couple of hours.

SPG50

Michael became one of 61 people on the planet and the only child in Canada known to have spastic paraplegia 50, also called SPG50.

Its a rare disease that will leave Michael with a progressive cerebral palsy effect in his limbs while his mind will fail like a Parkinsons patient, according to Terry, all because of a missing protein in the AP4M1 gene, starving his sons brain.

Hes got this double whammy of stuff happening to him right now.

Michael has suffered seizures and as he ages, his muscles will morph from missing tone to having too much, robbing him of his ability to move. His brain, too, will lose function.

Terry and Georgia didnt waste anytime starting to scour the internet for any bit of information about the disease.

They tracked down a child in Boston living with a similar condition.

For two weeks, that family took care of us, Terry said. We took that information and started running.

He started flying around the world to speak with specialists and pharmaceutical companies, while attending conferences to learn how they could beat the race against time.

I asked them all the same question: If this was your kid, what would you do? he said.

If this was your kid, what would you do?

Many of them pointed to gene therapy and researchers from the University of Texas. After Terry begged them to look at Michael, the team of specialists agreed, saying they could create an experimental therapy to try to cure his son but it would cost $3 million.

Weve liquidated everything weve reversed our mortgage and have taken everything out to try to save our kid, Terry said.

Terry also started a GoFundMe campaign for his child, which went viral, raising $695,032 since it was posted at the start of May.

THE $3 MILLION CURE

On top of the money needed for the experimental treatment, Michael also needs daily physical therapy and occupational therapy, but the government cant cover all the sessions.

If the therapy wasnt experimental, theres a chance the government would fund it and if the condition wasnt as rare as it is, there might be more researchers in Canada searching for a cure but the only option is out of the country, creating another barrier for any kind of financial help.

Terry said he tried contacting Ontario Premier Doug Ford and Prime Minister Justin Trudeau, but didnt receive any support.

Canada as a whole needs to come up with something to help parents, he said. There has to be a mechanism for families like us that are desperate, spending their life savings.

As people around the world organize fundraisers, events, yard sales and even lemonade stands to help Michael, Steven Miller, the head of neurology at SickKids, said Terry is one of the parents leading what could be a revolution within labs.

Were seeing a movement now, especially in Canada, where researchers are working with parents to identify what the next steps are in research, Miller said.

As we wait for the new therapies to evolve, its important not to lose sight for what we can do to help kids with diseases for which there is no cure.

Terry said he spends his mornings talking to the media before going to work for the day and coming home to his family in the evening before researching online until 3 a.m.

Almost two years old now, Michael is walking with assistance and still smiling on his own.

And his family isnt quitting.

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Race against time for family of toddler with ultra-rare disease, whose only chance at life costs $3 million - National Post