A Rotorua 6-year-old who has a rare genetic condition likened to “childhood dementia” will be “lucky” if he reaches his teenage years, his mother says.
Ollie Schimanski’s parents were given the “absolutely devastating” news last year that their son had been diagnosed with Sanfilippo, a rare genetic condition that causes fatal brain damage.
There is no treatment or cure for the rare genetic condition.
The average life expectancy is between 12 and 20 years.
Charlotte Schimanski, Ollie’s mum, is speaking out to raise awareness about the rare condition in the hope more research will be dedicated to it.
“We wouldn’t want any other kid to have to go through what he is going through and how much worse it will get.”
Early symptoms of Sanfilippo
Schimanski told the Rotorua Daily Post Ollie had “noisy breathing” when he was born. At age 1, they were told this was due to vocal cord dysplasia.
In 2020, Ollie was diagnosed with hearing loss, which was associated with speech delay.
However, “his speaking never really improved”, she said.
In January last year, Ollie received the “awful” diagnosis of Sanfilippo - a condition Schimanski had never heard of.
Rotorua boy Ollie Schimanski, 6, was diagnosed with Sanfilippo last year - an "extremely rare" condition that causes fatal brain damage. Photo / Alex Cairns
Schimanski said the condition was like “childhood dementia”.
She said Ollie did not talk as much as he used to and would eventually lose the ability to walk.
Schimanski said feeding him would also become an issue due to difficulty with swallowing.
It was “hard to know” how the condition would progress because every child was different.
“But we’ve been told that life span-wise, we’ll be lucky if he makes it to being a teenager.
“It took us a while to process that and deal with it when we first got that diagnosis. And I think now, it’s sort of changed how we view daily life.
“We have to make the most of what he can do now.”
Ollie Schimanski with his parents Charlotte and Mark Schimanski and 8-year-old sister Emma. Photo / Alex Cairns
Schimanski said family time was important and his sister, Emma, was “the best big sister to him”.
Ollie went to St Mary’s Catholic School every day, where he had “an absolute ball”.
Schimanski said the school had been “super supportive” and held a fundraising day on November 16 for World Sanfilippo Awareness Day.
Students wore purple to school and donated a gold coin, which would go to the Sanfilippo Children’s Foundation, she said.
Schimanski said Ollie enjoyed mountain biking, skateboarding, and going on tractors and motorbikes at a family farm.
“He just hasn’t got that cognitive ability to be able to do some of those things, but he definitely gives it a go.”
Ollie Schimanski loves going to school every day and is a pupil at St Mary’s Catholic Primary School in Rotorua. Photo / Alex Cairns
‘Missed the boat’ for clinical trials
Schimanski explained Ollie was missing the enzyme that “breaks down cellular waste”.
“Instead of it getting out of the body, it deposits ... it’s mainly in the brain so that’s why it causes that dementia illness.”
She said there were two major clinical trials overseas.
One trial was gene therapy that would “turn on the gene that he needs” and help promote the production of the missing enzyme. However, it could not reverse the damage already done.
“Most studies have shown that it’s most effective if the child gets gene therapy before they’re 2, so we’ve well and truly missed that boat.”
Another clinical treatment was “enzyme replacement therapy”, which involved an injection into the brain every two weeks - but there was no guarantee it would work.
St Mary’s Catholic Primary School had a “Wear Purple for Ollie Day”.
She said the Australian-based Sanfilippo Children’s Foundation had provided information and connected them with specialists.
Schimanski said people often asked what they could do to help.
“There’s really nothing that you can do but I think the key thing is research because there’s no cure, there’s no treatment. All we can ask for is research so that other kids don’t have to go through it.”
Schimanski said, to her knowledge, there were “maybe three” children with the condition in New Zealand.
A Te Whatu Ora spokeswoman said Sanfilippo was “extremely rare” and the public health agency had “insufficient” data to show how common Sanfilippo was.
Te Whatu Ora held data about people who received hospital care and used a coding system for diagnosis information. Sanfilippo did not have its own specific code and was grouped with a range of other conditions.
Ollie Schimanski and his family have been supported by the Sanfilippo Children’s Foundation in Australia. Photo / Alex Cairns
Sanfilippo Children’s Foundation chief executive Kerren Hosking said the charity drove research “for a world without Sanfilippo syndrome” and had directed almost $8 million into research in Australia and globally.
Hosking said people with the condition had a life expectancy of 12 to 20 years old.
She said isolation was one of the biggest challenges for families. The foundation connected families in Australia and New Zealand, kept them updated with progress in research and clinical trials, and with opportunities to take part in research projects.
St Mary’s Catholic Primary School deputy principal Brigitte Holmes said Ollie was “adored” by students and appreciated its community supporting the “Wear Purple for Ollie Day”.
“We want Ollie to continue enjoying school, we want Emma to have this time at school with her little brother and we want Ollie’s family to know that we love having Ollie at St Mary’s.”
Megan Wilson is a health and general news reporter for the Bay of Plenty Times and Rotorua Daily Post. She has been a journalist since 2021.
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