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This article was published 2/3/2015 (873 days ago), so information in it may no longer be current.
Saturday was Rare Disease Day — it was also Tatyanna Zazalak’s birthday, one she was never expected to see. Her parents say her zest for life has carried her through.
"Everyone was a friend ... the world was just a good place, she saw things differently. She was feisty," said Janelle, Tatyanna’s mother.
The 12-year-old Brandon girl, who suffers from late-infantile neuronal ceroid lipofuscinosis, spent Saturday at home the same way she would normally: in her bed, surrounded by her parents, who have gone almost three years without outside support.
"It’s bittersweet," said Janelle. "We were told we wouldn’t see last year for her birthday, so in that respect, it’s awesome. We have all this time we never thought we would have. But at the same time, we know time is running painfully short."
Late infantile NCL, one of a group of NCLs collectively called Batten disease, is a fatal, inherited disorder of the nervous system that typically begins in childhood — and as of now, Tatyanna’s parents Janelle and Trent know of only four cases in Manitoba.
Since Tatyanna was five years old, the couple has served as the voice of a disease scientists don’t understand and have created ties with other families in Australia, the United Kingdom, Serbia and the United States.
"We try and be a support for families and people coming in with the disease and maintain a knowledge base so we know where to direct people that are newly diagnosed," she said.
When Tatyanna was first diagnosed, a Winnipeg neurologist handed them an Internet printout, and said "this is what your daughter has, there’s nothing we can do, take her home, enjoy her, you don’t have a lot of good time left," Janelle recalled.
"There was no support, no referrals, no places you can go, no people you can contact. It’s just ‘take your child home, she’s going to die.’"
Now, after years advocating for their daughter, doctors have given them more consideration and politicians have given them attention. Trials out of Europe and South America give them hope medicine may eventually get a handle on the disease, but progress remains non-existent in Canada.
It’s because of that, they’ve become disillusioned with the country’s medical practices and Tatyanna is the only thing keeping them here.
The last major research breakthrough was by parent-driven fundraising, Janelle said.
For now, the family is grateful Tatyanna has fought this hard for this long, which they believe was in part because of trips they took to China for stem-cell treatment.
This is the first year Brandon’s Rhonda Towler has not marked Rare Disease Day, meant to create awareness for the illnesses which are mostly fatal and mostly affect children.
In November 2014, her seven-year-old daughter, Emma Belhumeur, died as a result of Ohtahara syndrome, an extremely rare epileptic encephalopathy.
"I’m still in shock," she said, though thankful Emma didn’t have to suffer in a hospital before her death.
Emma is still enrolled in a Boston research study, so she’s still a part of a cure even after death.
"We’re still trying to find out why she had Ohtahara syndrome," Towler said. "I’m not sure if we’ll ever find the cause, but if there’s something to prevent it, obviously I’d advocate for that too.
"If it can stop just one family from going through this pain, it’s worth it."
Towler will remain an advocate for rare diseases and hopes to meet other kids with Ohtahara, something she has always wanted to do.
And she’s still in contact with others all over the world who have gone through what she did.
"We still help each other out, still give each other advice because there are obviously lots of people who have lost kids too."
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