NEED TO KNOW<\/p>\n
Leading up to her daughter Olivia\u2019s 2-year checkup in December 2021, Erin Stoop couldn\u2019t shake the feeling that something wasn\u2019t right.\n<\/p>\n
Olivia had been showing symptoms since she was just 7 months old \u2014 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 \u201ctoddler belly,\u201d something that would fade as she grew more active.\n<\/p>\n
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\u2019d never seen anything like it.\n<\/p>\n
Finally, Erin, who lives in Muskego, Wis., with her husband Tyler, 39, looked her pediatrician in the eye and said, \u201cI want to see a GI specialist. Something is not right.\u201d\n<\/p>\n
At the GI appointment, the provider ordered labs and scheduled a stomach scope to investigate Liv\u2019s symptoms further.\n<\/p>\n
Erin Stoop with her daughter Olivia.<\/p>\n
Courtesy of Erin Stoop<\/p>\n
Around that same time, Erin, 37, mentioned Liv’s ongoing issues to her sister-in-law, who passed the story along to a friend \u2014 a pediatric neurologist. Just a few hours later, Erin\u2019s phone buzzed with a message that would change everything: \u201cShe thinks Liv has a lysosomal storage disorder. Do you want to know what that means?\u201d she recalls.\n<\/p>\n
\u201cI remember saying, \u2018Of course I do. Why wouldn\u2019t I?\u2019 \u201d Erin, who works as a pharmacists part-time, tells PEOPLE exclusively. \u201cAnd then I Googled it. I just started crying.\u201d\n<\/p>\n
According to the National Organization for Rare Disorders<\/a>, there are more than 50 types of lysosomal storage disorders \u2014 all rare, all serious. Some children with these conditions live into adulthood. Others face physical or cognitive challenges that begin in early childhood.\n<\/p>\n As Erin researched, everything started to make sense: the distended belly, frequent infections, developmental delays and subtle facial features she hadn\u2019t thought twice about before.\n<\/p>\n \u201cIt was check, check, check,\u201d she says. \u201cEverything lined up.\u201d\n<\/p>\n \u201cAll of these things we had written off as normal \u2014 or just quirks some kids have \u2014 suddenly made sense,\u201d she adds. \u201cShe 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\u2019d sometimes tip over backward.\u201d\n<\/p>\n Soon after the GI appointment, Liv was referred to a geneticist for further evaluation. Under the geneticist\u2019s care, tests were ordered to screen for mucopolysaccharidoses (MPS) \u2014 a group of lysosomal storage disorders.\n<\/p>\n The MPS panel tested for several rare diseases, including Hunter syndrome, Hurler syndrome, Morquio syndrome \u2014 and Sanfilippo syndrome, a particularly devastating disorder known for neurological decline in early childhood. As Erin scanned the list of possibilities, Sanfilippo stood out \u2014 but she immediately brushed it aside.\n<\/p>\n \u201cI remember thinking, no, no, she doesn\u2019t have that,\u201d the mom says. \u201cWhen you look online about Sanfilippo syndrome, you hear about the hyperactivity, the seizures, the behavioral things. And Liv wasn\u2019t that far progressed yet. She hadn\u2019t had those. I thought, no freaking way. I literally screenshotted it on my phone and I swiped.”\n<\/p>\n A closeup of Olivia Stoop.<\/p>\n Courtesy of Erin Stoop<\/p>\n Despite the screening, Erin still struggled to grasp the gravity of the situation, clinging to hope that Liv\u2019s symptoms might be explained by a less severe condition \u2014 maybe a food allergy or a manageable autoimmune issue.\n<\/p>\n But then, nine days later, on March 28, 2022, the family received a call from their genetic counselor that brought both clarity and heartbreak.\n<\/p>\n \u201cI was actually at work in my office and it was a Monday,\u201d Erin recalls. \u201cI was filling my coworker in because we\u2019d been on this journey for several weeks. We hadn\u2019t been in the genetics journey for long, but we\u2019d been considering other possibilities.\u201d\n<\/p>\n \u201cWithin minutes, I looked down and saw genetics on my phone,\u201d she adds. \u201cThey 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.\u201d\n<\/p>\n Olivia Stoop playing with toys.<\/p>\n Courtesy of Erin Stoop<\/p>\n The genetic counselor gave Erin time to cry, and the conversation wasn\u2019t very long. She didn\u2019t have many questions at the time \u2014 she was too shocked and overwhelmed.\n<\/p>\n Later, Erin sent a secure message with a handful of follow-up questions. That\u2019s when she learned Liv had MPS Type III, also known as Sanfilippo syndrome.\n<\/p>\n There are four types \u2014 A, B, C and D \u2014 and they didn\u2019t 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.\n<\/p>\n At the same time, Erin was at her work computer, Googling and scrolling through the treatment section, seeing only supportive care options \u2014 and a life expectancy that typically only reaches the mid- to late-teens.\n<\/p>\n \u201cIt just shattered me,\u201d Erin says. \u201cI cried for half an hour at my desk before I could even walk out. I messaged my boss and I\u2019d already told them what was going on. She told me, \u2018Take as much time off as you need.\u2019 ”\n<\/p>\n At the time of the diagnosis, Erin was 35 weeks pregnant with her son Liam \u2014 and terrified.\n<\/p>\n \u201cI 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,\u201d she says. \u201cThis wasn\u2019t how it was supposed to be. This wasn\u2019t what I planned. I\u2019m a big planner, very Type A, and this wasn\u2019t on my bingo card.\u201d\n<\/p>\n \u201cIt was extremely painful,\u201d she adds. \u201cAnd it was probably several months of just a dark \u2014 what felt like a dark cloud \u2014 over us. And some of that cloud is still here.\u201d\n<\/p>\n<\/p>\n Following Liv’s diagnosis, Erin reached out to the Cure Sanfilippo Foundation<\/a> \u2014 the first result that came up on Google. The foundation is run by an American husband and wife whose daughter has Sanfilippo.\n<\/p>\n Erin sent an email to Glenn, including a photo of Liv taken just the day before. In her message, she wrote: \u201cMy daughter just had positive bloodwork come back. We don\u2019t have the final DNA results yet, but this is what has come back so far.\u201d\n<\/p>\n Glenn called her within minutes. It was a difficult conversation \u2014 Erin could hear his daughter of 11 or 12 in the background, making noises but not talking.\n<\/p>\n \u201cIt was really hard to hear that that\u2019s where this was going,\u201d Erin says. \u201cI 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.\u201d\n<\/p>\n Erin and Olivia Stoop.<\/p>\n Traci Stoop | Stoop Images<\/a><\/p>\n Erin had many questions. \u201cDo we need to get another doctor? Do we need to move? Do we need to establish care? Is there someone who specializes in this?\u201d she asked.\n<\/p>\n The answer was sobering: there is no Sanfilippo specialist.\n<\/p>\n 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.\n<\/p>\n \u201cIt\u2019s on us at this point to know \u2014 from a cardiac standpoint, for example \u2014 what we should be looking for, so that we make sure to educate the doctors,\u201d Erin says. \u201cSome are great \u2014 they\u2019ll do the research ahead of time and might know as much as we do. But sometimes they don\u2019t. And we have to guide them, and say what the recommendations are for kids like Liv.\u201d\n<\/p>\n Never miss a story \u2014 sign up for\u00a0PEOPLE’s free daily newsletter<\/a>\u00a0to stay up-to-date on the best of what PEOPLE has to offer\u200b\u200b, from celebrity news to compelling human interest stories.\u00a0<\/strong>\n<\/p>\n<\/p>\n As Erin explains, Sanfilippo syndrome affects every aspect of Liv\u2019s life.\n<\/p>\n Liv, who’s now 4 years old, has sleep issues \u2014 getting her to fall asleep, stay asleep and remain contained in her room without getting into trouble is difficult. She\u2019s not independent at all. She\u2019s not toilet trained and will never be. She eats some things with her hands and mouth, but sometimes she\u2019s just not very good at it. Her parents have to feed her and help with all her daily activities \u2014 changing her clothes, guiding her to places.\n<\/p>\n \u201cWe used to be able to say, \u2018Can you throw this away?\u2019 and she would. But now, she doesn\u2019t follow simple one-direction commands anymore,\u201d Erin says.\n<\/p>\n \u201cIf we want her to go downstairs, we can\u2019t just say, \u2018Liv, can you go downstairs?\u2019 We have to say it while physically guiding her, because she can\u2019t interpret most of what we say,\u201d she adds. \u201cShe can watch a show and find certain things funny, but what she finds funny doesn\u2019t match what most people would. Just some facial expressions or sounds might make her smile. But she doesn\u2019t understand any show with real depth \u2014 she prefers the singing ones that repeat, because they\u2019re simpler and she can follow along a bit more.\u201d\n<\/p>\n Closeup of Olivia Stoop.<\/p>\n Traci Stoop | Stoop Images<\/a><\/p>\n Watching other children her age hit milestones is a painful reminder of Liv\u2019s challenges. Erin says that if Liv had been their second child, she would\u2019ve noticed the signs much earlier.\n<\/p>\n \u201cI\u2019m the first in my family to have a child, and I didn\u2019t have much experience with milestones beyond what I read online,\u201d she says. \u201cI didn\u2019t 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.\u201d\n<\/p>\n The biggest struggle is communication. Liv is now minimally verbal.\n<\/p>\n She used to say \u201cyogurt,\u201d \u201capplesauce,\u201d \u201cmilk.\u201d 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 \u2014 otherwise, she\u2019ll pull out a full gallon of milk and drop it on the floor if that\u2019s what she wants.\n<\/p>\n \u201cThere are days when we get so frustrated,\u201d Erin admits. \u201cIt\u2019s not her fault \u2014 not at all \u2014 but it\u2019s like, \u2018What do you want?\u2019 I feel so bad saying that, but I wish I could help her. I want to help her, but I can\u2019t read her mind. I wish I had a magic crystal ball to see what she wants.\u201d\n<\/p>\n<\/p>\n In the hardest moments, Erin has found comfort and strength through connection \u2014 especially with other moms of children with Sanfilippo she\u2019s met online through TikTok and Instagram.\n<\/p>\n That sense of community began after her family partnered with the Cure Sanfilippo Foundation<\/a> to create a video for Liv\u2019s 3rd birthday in December 2022.\n<\/p>\n \u201cIt was actually their idea for me to start social media accounts \u2014 to build a following so that when we launched the video, more people would see it and become aware,\u201d Erin explains.\n<\/p>\n So she created Saving Liv<\/a>. 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.\n<\/p>\n As Erin continued to open up and share Liv\u2019s story, her following quickly grew. Since then, Saving Liv has reached millions of people \u2014 with more than 121,000 followers on TikTok<\/a> and 17,000 on Instagram<\/a>. They’ve also created a GoFundMe<\/a> where they’ve raised more than $450,000 for research.\n<\/p>\n \u201cI try to post daily,\u201d she says. \u201cSome days I miss, but my goal is always to share something educational about Sanfilippo \u2014 whether it\u2019s a facial feature, something about genetic carrier screening, or what it\u2019s like being a special needs mom \u2014 something I hope someone might benefit from.\u201d\n<\/p>\n What keeps her going is the constant stream of messages \u2014 mostly from parents, often moms \u2014 who are worried their child might have symptoms similar to Sanfilippo syndrome.\n<\/p>\n \u201cI can never say their child has Sanfilippo \u2014 that\u2019s impossible without testing \u2014 but I try to guide them in the right direction. Whether that\u2019s encouraging them to talk to their pediatrician, ask for specific tests, see a geneticist or just helping calm their fears.\u201d\n<\/p>\n<\/p>\n Over time, some of those conversations have led to life-changing outcomes.\n<\/p>\n One mom from Iowa came across one of Erin\u2019s videos on Christmas Eve \u2014 almost a year after Erin began sharing publicly. \u201cSomething clicked for her in that moment,\u201d 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.\n<\/p>\n Another family, from Louisiana, discovered Saving Liv in a similar way. In this case, it was the child\u2019s grandmother who first saw one of Erin\u2019s TikToks. She sent it to her daughter with a message of concern \u2014 and it sparked action.\n<\/p>\n At the time, the child was just over 1 year old. She\u2019d experienced frequent ear infections, a distended stomach and had ear tubes placed, but hadn\u2019t yet shown major developmental delays. Still, her mom followed her instincts, pursued testing and received an early diagnosis.\n<\/p>\n \u201cThese are the families I feel the most connected to,\u201d Erin says. \u201cOur lives are so intertwined now. We\u2019re walking the same path \u2014 and finding comfort in walking it together.\u201d\n<\/p>\n \u201cI\u2019ve now got a community of moms with kids with Sanfilippo who want to talk about this all the time,\u201d she says. \u201cThey\u2019re living the same caregiver life I am, and they get it. The moms I\u2019ve met online have been priceless \u2014 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.\u201d\n<\/p>\n Erin Stoop with her daughter Olivia.<\/p>\n