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Parents hope to raise $1 million to cure 3-year-old diagnosed with deadly genetic disorder

Olivia was diagnosed with Sanfilippo Syndrome Type B, a genetic degenerative brain disorder in children caused by a single missing enzyme.
Saving Liv.jpg
Posted at 3:49 PM, Dec 06, 2022

MUSKEGO, Wis. — Three-year-old Olivia still has a lot of life to give, but her days could be cut short after a tragic diagnosis of Sanfilippo Syndrome.

In 2018, Tyler and Erin Stoop got married and the following year, they were blessed with their little girl Olivia who they affectionally call Liv.

She has a smile you can't resist and loves being a big sister.

"Olivia is a lot of fun. She loves to play (with) baby dolls now that she's got a little brother. She's got a seven-month-old brother Liam," said Olivia's mom Erin.

This little cutie just turned three a few days ago and earlier this year she was diagnosed with Sanfilippo Syndrome Type B, a neurodegenerative disease that is described as Alzheimer's in children.

"We have things called lysosomes that help break down different sort of byproducts of our cells," said Dr. Matthew Harmelink, a Pediatric Neurologist at Children's Wisconsin. "In those lysosomal diseases where you can't break things down, so you start accumulating these byproducts. Essentially because of that, if affects kids typically you start seeing symptoms after a couple of years of age sometimes sooner."

According to Cure Sanfilippo Foundation, most symptoms begin to be recognized between ages one and six when the child begins showing signs of developmental delay.

"For us with Olivia, she actually suffered continual chronic sinus infections and ear infections. I think she had 10 ear infections before she was one, but she also suffered with chronic diarrhea which is why that actually prompted us at her two-year-old appointment to ask the pediatrician for some answers," said Erin.

Sanfilippo Syndrome is 100% fatal and there is currently no FDA-approved treatment or cure.

"The terrible thing about this disease is we get those glimpses of her hitting those milestones, learning new things, having those achievements, things that you are proud of your kid doing, but with this disease, we end up seeing the last time she does those things to," said Tyler.

The Stoops have hope that they can raise at least $1 million that will go to the Cure Sanfilippo Foundation.

"Unfortunately, these studies cost a lot of money, so even with a million dollars that could take one of these therapies that's kind of in those last stages over the hump into a clinical trial," said Tyler.

Like every parent, Tyler and Erin look forward to seeing their children grow up, but they need everyone's help to get one step closer to a cure.

"Seeing her start to be the child that we had envisioned, the child that we had kind of perceived in our minds. I have a great relationship with my mom and I think about her and me doing those things that my mom and I did, you know," said Erin.

Olivia is a happy little girl that enjoys playing waitress and was excited to show off her skills in mowing the lawn.

Right now, the community can make donations through a GoFundMe fundraiser that will benefit the Cure Sanfilippo Foundation.

In the meantime, Liv will keep bringing joy to everyone she meets!

Visit GoFundMe to donate.

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