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'It's amazing': Community rallies behind Barrie girl with exceptionally rare disorder
BARRIE -- Life for Lisa and Jason Tomljanovic is full of daily challenges.
Their daughter, Ellie, was diagnosed with an exceptionally rare neurological disorder called Pitt-Hopkins syndrome as a toddler, which brought its share of struggles for the family. Ellie was also diagnosed with autism and hypotonia, also known as floppy baby syndrome, which reduces her muscle tone and strength.
"It's hard," admits her mom, Lisa. "She's non-verbal, she's in a wheelchair, she can't feed or dress herself, she has extreme gastrointestinal issues, and she self-harms."
The Barrie family has already made several modifications to their home to try and fit their daughter's needs, but the family is now struggling to keep up with the costs of caring for Ellie.
Lisa and Jason hope to install a special wheelchair lift that will ease the challenges of having to get their seven-year-old into and out of the house.
"She's dead weight," says Lisa. "She's like 60 to 65 pounds, so most of the time she spends in her room."
Lisa says having to carry her daughter is just one of the physical difficulties the family faces every day, while also struggling to overcome communication challenges.
"If she is in her room and she wants her TV on, she will kind of make grunting noises and will grab the remote," explains Lisa. "And you go through channel by channel by channel … if you get it right, then she's happy, if you don't, she will hit herself in the head or bite her arm."
There are approximately 500 cases of Pitt-Hopkins in the world. It's a genetic disorder that causes intellectual and developmental delays.
"It's like pages in a book, if you're missing pages in a book, you don't know what happens next," describes Lisa.
Ellie's parents are concerned that as she grows, and they age, caring for their daughter will only become more challenging - but they are determined to do whatever is necessary.
"We want to keep Ellie at home."
A friend of the family recently started up a GoFundMe campaign to help raise $7,000, and the community responded, raising nearly half the amount needed for the wheelchair lift in a matter of days. Generosity that has completely overwhelmed Lisa and Jason.
"It's amazing," Lisa says as the tears well in her eyes. "Every little dollar helps because as Ellie gets older, the more help she's going to need. Eventually, there's going to be other things and modifications necessary to keep her safe."
And while Ellie can't actually talk to her mom, Lisa says she's pretty sure her child is grateful.
"I think she'd say thank you."