In the backyard of their home in Horseshoe Valley, north of Barrie, Ont., smiling three-year-old Josef Gortnar is proudly pushing his big sister on the swings.
“It’s bittersweet because he’s taking a big brother role, even though he’s the little brother,” said Terri Gortnar, the children’s mother.
Claire Gortnar, who is about to turn six, does not respond to Josef as he pushes her on the swings, but she is smiling and appears to be enjoying it.
She is one of around 15 Canadians with CL2 Batten Disease, an inherited nervous system disorder. No specific treatment is available to cure it, but treatments exist to manage the symptoms.
“CL2 Batten Disease is a regressive neurological disorder that is almost like a combination of many other diseases. They slowly lose the ability to walk. They slowly lose the ability to talk. They slowly lose fine motor function, the ability to eat. They will lose their eyesight eventually. They’ll get dementia,” explained father Mark Gortnar.
“It’s just a ton of symptoms. And then they usually pass away before they’re teenagers,” added Terri quietly.
Claire is not alone in her battle. It may not look like it, but happy-go-lucky Josef also has Batten Disease.
“This is a deck of cards no one should be dealt,” Mark said in November 2019 when Global News first met the Gortnars after he learned his son also has the disease.
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It’s been a long, difficult journey for the family since the children were diagnosed, and the COVID-19 pandemic has not helped.
While their regularly scheduled trips to Sick Kids Hospital for enzyme replacement therapy have not been impacted by the pandemic, their other usual therapies have.
“Their physical therapy, their occupational therapy, their speech therapy, horse therapy, aqua therapy — we keep them busy. Claire would not be where she is if we didn’t keep her busy … it has been hard because everything was essentially cancelled,” said Mark.
The family also reduced the number of people coming to the home to provide support.
“We decided to keep one nurse who does not see any other families or have another job. We were able to give her enough hours so that she is only at our house and so we built that trust, knowing that she wasn’t out anywhere else and she was being safe,” said Terri.
The Pirovolakis family of East Toronto also made some changes to keep their young child, who is battling an ultra-rare neurodegenerative disease, safe during the pandemic.
Three-year-old Michael Pirovolakis has Spastic Paraplegia 50, or SPG50.
“Michael is one of 61 in the world and the only one in Canada,” said his father, Terry Pirovolakis.
Like the Gortnars, the Pirovolakis family has been living an isolated lifestyle during the pandemic.
Michael’s older siblings were enrolled in virtual school for several months, before recently returning to the classroom.
The biggest challenge, said Pirovolakis, has been fundraising.
There is no cure for SPG50 but there is hope that gene therapy will be able to halt the progression of the disease and potentially reverse the effects.
The family has raised nearly $2.8 million through an ongoing GoFundMe campaign that has a $4 million goal.
“The technology is all new and for us to manufacture and to get it to the FDA and through the regulatory process, it takes a lot of time, a lot of money,” explained Terry. “We had to cancel our golf tournament, we had to cancel our gala, we had signs that were made that were going to Everest and the team said, ‘we can’t go because Nepal shut down, what do we do?’ so these are all the things that have made it extremely difficult.”
He noted that his community has been supportive and helpful through it all.
But another concern for Michael is the impact of the pandemic on his regular therapies.
Throughout the last year, there have been cancellations due to outbreaks.
“We’ve had three or four scares already where a therapist has gotten COVID because they are seeing patients, it’s naturally going to happen, and then we have to go and get tested and have quarantined for 14 days so it’s been extremely hard,” he said.
The CEO of the Canadian Organization for Rare Disorders (CORD) explained the pandemic has been especially difficult on families that have children with rare diseases.
“Why can’t we take the same kind of initiative that we’ve had to COVID to helping our children with rare diseases?” asked CORD CEO Durhane Wong-Rieger.
“The impact on children with rare diseases goes all the way from the beginning in terms of diagnosis. We have kids for instance, who could have been, and should have been diagnosed, in this past year, in 2020, but because they couldn’t get to their physicians, because they couldn’t get access to the testing, actually were not diagnosed until many months later,” she said.
By the time the children received their diagnosis, said Wong-Rieger, the disease had progressed.
CORD has been pushing the federal government to move forward on a 2019 budget promise to implement a rare disease strategy.
“Last March, when we finally got the government to say, ‘OK, we can begin consultations,’ almost a week later is when COVID happened and everything went into lockdown,” she said. “The tragedy on this is that this rare disease strategy is supposed to be to bringing therapies and help us figure out a pathway to get therapies to people in a timely fashion.“
Wong-Rieger said there appears to be a willingness by the federal government to get this going and she is optimistic.
“They promised us a proposal by the end of March that we can comment on. We’re very hopeful that by this fall we will have a plan that will actually let us set up this rare disease drug strategy by 2022 and we’re going to do everything possible, we said to them, to make sure that we can meet that time schedule,” she said.
Back at the Gortnars’, the children are sitting on the couch and playing happily together.
Josef is giggling.
“He is noticing that he is different than his sister … he’s very helpful with her and he wants to make sure that she has what she needs and he brings her things and brings her toys,” said Terri.
Time is not on their side, or Michael Pirovolakis’.
As Canadians wait their turn to roll up their sleeves for a COVID-19 vaccine, the Gortnar and Pirovolakis families pray for a cure.
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