NEED TO KNOW

  • Leading up to her daughter Olivia’s 2-year checkup, Erin Stoop couldn’t shake the feeling that something wasn’t right
  • Olivia’s belly remained swollen — hard to the touch and rounder than it should’ve been. Her pediatrician dismissed it as a normal “toddler belly,” something that would go away
  • A few months later, Olivia was diagnosed with a terminal genetic disorder

Leading up to her daughter Olivia’s 2-year checkup in December 2021, Erin Stoop couldn’t shake the feeling that something wasn’t right.

Olivia had been showing symptoms since she was just 7 months old — including a belly that remained swollen, hard to the touch and rounder than it should have been. Her pediatrician brushed it off as a typical “toddler belly,” something that would fade as she grew more active.

But Erin knew better. Olivia, nicknamed Liv, was also having up to 12 loose stools a day. Even her daycare provider, who had cared for children for more than 15 years, said she’d never seen anything like it.

Finally, Erin, who lives in Muskego, Wis., with her husband Tyler, 39, looked her pediatrician in the eye and said, “I want to see a GI specialist. Something is not right.”

At the GI appointment, the provider ordered labs and scheduled a stomach scope to investigate Liv’s symptoms further.

Erin Stoop with her daughter Olivia.

Courtesy of Erin Stoop

Around that same time, Erin, 37, mentioned Liv’s ongoing issues to her sister-in-law, who passed the story along to a friend — a pediatric neurologist. Just a few hours later, Erin’s phone buzzed with a message that would change everything: “She thinks Liv has a lysosomal storage disorder. Do you want to know what that means?” she recalls.

“I remember saying, ‘Of course I do. Why wouldn’t I?’ ” Erin, who works as a pharmacists part-time, tells PEOPLE exclusively. “And then I Googled it. I just started crying.”

According to the National Organization for Rare Disorders, there are more than 50 types of lysosomal storage disorders — all rare, all serious. Some children with these conditions live into adulthood. Others face physical or cognitive challenges that begin in early childhood.

As Erin researched, everything started to make sense: the distended belly, frequent infections, developmental delays and subtle facial features she hadn’t thought twice about before.

“It was check, check, check,” she says. “Everything lined up.”

“All of these things we had written off as normal — or just quirks some kids have — suddenly made sense,” she adds. “She had recurrent ear and sinus infections that kept coming back, and eventually needed ear tubes. Her face looked a little different. Her eyebrows were becoming more prominent, her teeth were widely spaced. She had a speech delay, was uncoordinated and when she looked up at us, she’d sometimes tip over backward.”

Soon after the GI appointment, Liv was referred to a geneticist for further evaluation. Under the geneticist’s care, tests were ordered to screen for mucopolysaccharidoses (MPS) — a group of lysosomal storage disorders.

The MPS panel tested for several rare diseases, including Hunter syndrome, Hurler syndrome, Morquio syndrome — and Sanfilippo syndrome, a particularly devastating disorder known for neurological decline in early childhood. As Erin scanned the list of possibilities, Sanfilippo stood out — but she immediately brushed it aside.

“I remember thinking, no, no, she doesn’t have that,” the mom says. “When you look online about Sanfilippo syndrome, you hear about the hyperactivity, the seizures, the behavioral things. And Liv wasn’t that far progressed yet. She hadn’t had those. I thought, no freaking way. I literally screenshotted it on my phone and I swiped.”

A closeup of Olivia Stoop.

Courtesy of Erin Stoop

Despite the screening, Erin still struggled to grasp the gravity of the situation, clinging to hope that Liv’s symptoms might be explained by a less severe condition — maybe a food allergy or a manageable autoimmune issue.

But then, nine days later, on March 28, 2022, the family received a call from their genetic counselor that brought both clarity and heartbreak.

“I was actually at work in my office and it was a Monday,” Erin recalls. “I was filling my coworker in because we’d been on this journey for several weeks. We hadn’t been in the genetics journey for long, but we’d been considering other possibilities.”

“Within minutes, I looked down and saw genetics on my phone,” she adds. “They told me they would message me if everything was negative but call if there was anything positive. My heart sunk. I knew I was about to hear something really bad.”

Olivia Stoop playing with toys.

Courtesy of Erin Stoop

The genetic counselor gave Erin time to cry, and the conversation wasn’t very long. She didn’t have many questions at the time — she was too shocked and overwhelmed.

Later, Erin sent a secure message with a handful of follow-up questions. That’s when she learned Liv had MPS Type III, also known as Sanfilippo syndrome.

There are four types — A, B, C and D — and they didn’t yet know which one Liv had. The bloodwork showed elevated toxic waste in her system, but the cheek swab test, which takes several weeks, would reveal the exact genetic mutation. Then came the part that broke her: there are currently no FDA-approved treatments for the syndrome.

At the same time, Erin was at her work computer, Googling and scrolling through the treatment section, seeing only supportive care options — and a life expectancy that typically only reaches the mid- to late-teens.

“It just shattered me,” Erin says. “I cried for half an hour at my desk before I could even walk out. I messaged my boss and I’d already told them what was going on. She told me, ‘Take as much time off as you need.’ ”

At the time of the diagnosis, Erin was 35 weeks pregnant with her son Liam — and terrified.

“I knew there was a 25% chance he also had the same thing. The fear for him, and for what I thought our lives would look like, was overwhelming,” she says. “This wasn’t how it was supposed to be. This wasn’t what I planned. I’m a big planner, very Type A, and this wasn’t on my bingo card.”

“It was extremely painful,” she adds. “And it was probably several months of just a dark — what felt like a dark cloud — over us. And some of that cloud is still here.”

Following Liv’s diagnosis, Erin reached out to the Cure Sanfilippo Foundation — the first result that came up on Google. The foundation is run by an American husband and wife whose daughter has Sanfilippo.

Erin sent an email to Glenn, including a photo of Liv taken just the day before. In her message, she wrote: “My daughter just had positive bloodwork come back. We don’t have the final DNA results yet, but this is what has come back so far.”

Glenn called her within minutes. It was a difficult conversation — Erin could hear his daughter of 11 or 12 in the background, making noises but not talking.

“It was really hard to hear that that’s where this was going,” Erin says. “I think they were in the middle of a therapy session or a therapist was coming to their house, and it was just kind of eye-opening to the reality of what this disease brings for families. He was so helpful and basically gave us guidance right away on who to be in contact with.”

Erin and Olivia Stoop.

Traci Stoop | Stoop Images

Erin had many questions. “Do we need to get another doctor? Do we need to move? Do we need to establish care? Is there someone who specializes in this?” she asked.

The answer was sobering: there is no Sanfilippo specialist.

While there are experts who study lysosomal storage disorders, when it comes to this disease, Erin and her family need to find the way themselves.

“It’s on us at this point to know — from a cardiac standpoint, for example — what we should be looking for, so that we make sure to educate the doctors,” Erin says. “Some are great — they’ll do the research ahead of time and might know as much as we do. But sometimes they don’t. And we have to guide them, and say what the recommendations are for kids like Liv.”

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As Erin explains, Sanfilippo syndrome affects every aspect of Liv’s life.

Liv, who’s now 4 years old, has sleep issues — getting her to fall asleep, stay asleep and remain contained in her room without getting into trouble is difficult. She’s not independent at all. She’s not toilet trained and will never be. She eats some things with her hands and mouth, but sometimes she’s just not very good at it. Her parents have to feed her and help with all her daily activities — changing her clothes, guiding her to places.

“We used to be able to say, ‘Can you throw this away?’ and she would. But now, she doesn’t follow simple one-direction commands anymore,” Erin says.

“If we want her to go downstairs, we can’t just say, ‘Liv, can you go downstairs?’ We have to say it while physically guiding her, because she can’t interpret most of what we say,” she adds. “She can watch a show and find certain things funny, but what she finds funny doesn’t match what most people would. Just some facial expressions or sounds might make her smile. But she doesn’t understand any show with real depth — she prefers the singing ones that repeat, because they’re simpler and she can follow along a bit more.”

Closeup of Olivia Stoop.

Traci Stoop | Stoop Images

Watching other children her age hit milestones is a painful reminder of Liv’s challenges. Erin says that if Liv had been their second child, she would’ve noticed the signs much earlier.

“I’m the first in my family to have a child, and I didn’t have much experience with milestones beyond what I read online,” she says. “I didn’t realize how far behind she was at diagnosis. Once we got the diagnosis and started paying more attention, it was clear she was falling further behind.”

The biggest struggle is communication. Liv is now minimally verbal.

She used to say “yogurt,” “applesauce,” “milk.” Even those words are gone now. She can still say a few names and a couple of other things, but now she mostly walks to the fridge and tries to yank it open. The family has to keep it locked — otherwise, she’ll pull out a full gallon of milk and drop it on the floor if that’s what she wants.

“There are days when we get so frustrated,” Erin admits. “It’s not her fault — not at all — but it’s like, ‘What do you want?’ I feel so bad saying that, but I wish I could help her. I want to help her, but I can’t read her mind. I wish I had a magic crystal ball to see what she wants.”

In the hardest moments, Erin has found comfort and strength through connection — especially with other moms of children with Sanfilippo she’s met online through TikTok and Instagram.

That sense of community began after her family partnered with the Cure Sanfilippo Foundation to create a video for Liv’s 3rd birthday in December 2022.

“It was actually their idea for me to start social media accounts — to build a following so that when we launched the video, more people would see it and become aware,” Erin explains.

So she created Saving Liv. At the time, her following was small. But everything changed last fall when Erin went part-time at work and began sharing more consistently. She even jokes that posting has become her therapy.

As Erin continued to open up and share Liv’s story, her following quickly grew. Since then, Saving Liv has reached millions of people — with more than 121,000 followers on TikTok and 17,000 on Instagram. They’ve also created a GoFundMe where they’ve raised more than $450,000 for research.

“I try to post daily,” she says. “Some days I miss, but my goal is always to share something educational about Sanfilippo — whether it’s a facial feature, something about genetic carrier screening, or what it’s like being a special needs mom — something I hope someone might benefit from.”

What keeps her going is the constant stream of messages — mostly from parents, often moms — who are worried their child might have symptoms similar to Sanfilippo syndrome.

“I can never say their child has Sanfilippo — that’s impossible without testing — but I try to guide them in the right direction. Whether that’s encouraging them to talk to their pediatrician, ask for specific tests, see a geneticist or just helping calm their fears.”

Over time, some of those conversations have led to life-changing outcomes.

One mom from Iowa came across one of Erin’s videos on Christmas Eve — almost a year after Erin began sharing publicly. “Something clicked for her in that moment,” Erin says. Her child was officially diagnosed one year to the day after Liv. Since then, the two families have formed a strong bond. Erin and her family have even traveled to visit them twice.

Another family, from Louisiana, discovered Saving Liv in a similar way. In this case, it was the child’s grandmother who first saw one of Erin’s TikToks. She sent it to her daughter with a message of concern — and it sparked action.

At the time, the child was just over 1 year old. She’d experienced frequent ear infections, a distended stomach and had ear tubes placed, but hadn’t yet shown major developmental delays. Still, her mom followed her instincts, pursued testing and received an early diagnosis.

“These are the families I feel the most connected to,” Erin says. “Our lives are so intertwined now. We’re walking the same path — and finding comfort in walking it together.”

“I’ve now got a community of moms with kids with Sanfilippo who want to talk about this all the time,” she says. “They’re living the same caregiver life I am, and they get it. The moms I’ve met online have been priceless — not just because of what they know about Sanfilippo, but because we can share the emotional weight of it all. We can vent, ask questions, cry if we need to. I never feel alone.”

Erin Stoop with her daughter Olivia.

Traci Stoop | Stoop Images

In the beginning, Erin says her hope for saving Liv was high. But as time has passed and the disease has progressed, that hope has shifted.

A recent brain MRI revealed significant tissue loss — a painful confirmation of what they’d begun to suspect. “It’s hard to see that,” Erin says, “and to know that the odds of her regaining any of it are shrinking as she gets older and the disease advances.”

She now expects that Liv will likely lose her speech entirely within the next year or two. Walking and eating by mouth may also become increasingly difficult within the next three to five years.

At home, Erin also faces the delicate task of explaining Liv’s condition to her younger son, Liam, who just turned 3.

“We keep it really simple,” she says. “When Liv does something different or doesn’t use words, I tell him, ‘That’s her way of communicating. She communicates a little differently.’ I also say she’s still learning, and that he needs to be patient with her.”

She knows he already notices the differences.

“He sees neurotypical kids at daycare every day — kids who sit at the table, follow instructions. He knows Liv’s not like that,” Erin says. “But he’s starting to step into the big brother role. If I’m changing her diaper, he’ll grab the wipes or throw it away. That part’s been really sweet.”

Today, holding on to hope looks different than it once did. Erin and her family are focusing their energy outward — toward advocacy, awareness and earlier diagnoses for others.

“We’ve shifted from trying to save Liv to trying to save future kids with Sanfilippo Syndrome,” she explains. “If something came along that could really improve her quality of life, we’d absolutely consider it. But we’re not willing to put her — or our family — through something experimental unless it has proven benefits. Not if it would only prolong her life without improving it.”

“Even if it’s not about saving Liv anymore, it’s about saving someone else’s child. And that still gives me purpose,” she adds.

Erin often often thinks about how much difference an earlier diagnosis might have made.

“I had two years of naïve bliss where I didn’t know she was dying — and I’ll always be grateful for that,” she says. “But if knowing sooner could’ve gotten her into a treatment that made a real difference, I would’ve chosen that in a heartbeat.”

That hope — the chance to help another parent spot the signs sooner, ask the right questions and possibly change the course of their child’s life — is what keeps her going.

“I hope Liv leaves a legacy,” she says. “Whether that’s a treatment that gets FDA approval, or even just seeing Sanfilippo listed under ‘treatment options’ instead of only ‘supportive care.’ I want newly diagnosed families to scroll down a webpage and see a glimmer of hope.”