First steps, first words, first movements — these are the fundamental beginnings of a child’s life. Children continue to develop and grow over their next years, forming sentences and relationships. There is nothing more heartwarming than hearing them learn their name and begin talking. 

However, for some children, at only three to four years old, this will be the last time they ever remember their name or how to speak. This is the harsh reality of Sanfilippo Syndrome, a rare genetic condition also known as childhood dementia. 

While scrolling through TikTok, I stumbled upon an account named “Saving Liv” that shed light on this disorder. I began to research more and more about Sanfilippo daily, and was shocked by the lack of awareness and research.

Children were losing all their basic skills by the age of seven. How are more people not talking about this?

I was ultimately left with more questions than answers while searching the web. This prompted me to contact Erin Stoop, the owner of the account that introduced me to Sanfilippo Syndrome, “Saving Liv.” Soon after, I got the privilege of interviewing Stoop, the mother of a four year old girl named Liv who has Sanfilippo. This in-depth interview gave me profound insight into the challenges and impact of Sanfilippo syndrome. It became evident that more awareness and understanding are crucial for addressing this unique disorder.

The life expectancy for a child with Sanfilippo Syndrome is 10-20 years old. Based on this statistic, I assumed there was some sort of prevention or prenatal screening to find out in advance and avoid this. However, only 1 in 70,000 kids are born with Sanfilippo and there is no cure. Due to this, Stoop said, “It is something that two parents could be tested for ahead of time but because it’s so rare and there’s no treatment, it has not been approved.” When a couple is expecting, the fetus can only be screened for so many diseases as there is nearly an infinite amount of abnormal genetic conditions that could occur. Most people don’t have the money to test for all these niche conditions so they are left to just hope for the best. 

The earliest that Sanfilippo Syndrome can be identified is when the child is at around 1 year old. In Liv’s case, she was diagnosed when she was two. 

Getting Liv’s diagnosis, however, was far from easy or predictable. Her doctor had never even heard of the disease prior to her diagnosis, so all she could do was refer Stoop to a gastrointestinal specialist.

According to Stoop, “Her main symptoms were gastrointestinal related. She has a very big distended belly. She had frequent loose stools and a lot of ear and sinus infections.” When she shared her concerns with others, she was often dismissed and told it was normal for children to get sick. Since Liv took many antibiotics, her parents assumed her stomach issues were caused by those. They had no idea they would soon find out their daughter had a rare fatal genetic disorder. 

The gastrointestinal doctor noticed that Liv had an enlarged liver and elevated liver function, yet was still unable to diagnose her. Liv was then recommended to a geneticist who was able to accurately determine that she had Sanfilippo. One critical factor that led to her diagnosis was her unique facial features. She has very large eyebrows, a low nasal bridge, a button nose, and an abnormally large head. These features are all typical of someone with Sanfilippo, but it is still hard to recognize as most medical professionals have little to no experience with the disorder. 

The diagnosis blindsided Liv’s family and left them aghast. They learned that Sanfilippo Syndrome is caused by the gene responsible for enzyme production. Unbeknownst to Stoop, both her and her husband were carriers of a defective copy of this gene. Despite there only being a 25% chance of a child being affected by this disorder, Liv unfortunately inherited it in an autosomal recessive pattern. 

Sanfilippo Syndrome is also known as a type of mucopolysaccharidosis, a category of diseases relate to lysosomal storage. There are nine types of mucopolysaccharidoses and Sanfilippo Syndrome is known as type III. 

Lysosomes are the primary digestive components of the cell. This explains why Liv was suffering from gastrointestinal issues and consequently sent to a gastroenterologist. Along with this, mucopolysaccharidosis leads to an accumulation of complex carbohydrates known as glycosaminoglycans. They accumulated in Liv’s liver which resulted in the enhanced liver function and enlarged size. Over time, this accumulation causes continuous damage to cells and organ systems.

Liv’s family learned a lot through researching the disorder but they were unprepared for the massive shift in their daily life. Erin and her husband Tyler both had full time jobs, and tackling Liv’s condition would be incredibly time-consuming. 

Nonetheless, they committed to giving Liv the best life possible no matter how many appointments and specialists they would have to take her to. In fact, the hardest part for the Stoops was not the time spent taking Liv to her various appointments; it was the time that would be taken away from Liv’s lifetime due to her condition. Stoop painfully admits, “Getting her diagnosis has helped us understand why she is the way she is, but having the diagnosis and now knowing that her life expectancy is shorter has been extremely hard, and we face the challenge of attempting to live in the moment daily, now.” This is the heartbreaking reality for all parents of children with Sanfilippo.

Initially, Liv was diagnosed based on her facial features and gastrointestinal issues. While researching the disease soon after, Stoop was surprised to learn that behavioral issues were a major symptom since Liv seemingly had none. However, just months later they began. 

Liv was more developed as a two year old than she is now at four years old. She was able to speak some sentences, yet now that she is four years old, she has remained cognitively at the age of two years old and speaks minimally. Additionally, she has become extremely hyper and fidgety. It is difficult for her to sit still as she is constantly getting up to grab and touch objects. This causes her to have trouble sleeping, and she wakes up frequently in the middle of the night. 

As a result, Liv was put on the antidepressant Fluoxetine/Prozac in order to help calm her down. This drug also helps with the inflammation and swelling caused by Sanfilippo Syndrome. She also takes melatonin to assist her in falling asleep.

Though these medicines help with the physical aspects of Sanfilippo, there is no way for her to regain the skills she has lost. According to her mom, she was once able to sing the ABCs and count to ten with assistance but is now barely able to do that. Typically, the first sign of regression in kids with Sanfilippo is through their speech, and Liv has lost a lot of her words already. 

The regression of skills doesn’t just happen overnight, however. At her peak, she was about two and a half years old. Her mom recalls telling people at the time that she was an average kid on track, maybe just a little behind on speech. However, as her classmates developed, she only got worse or stayed the same. They anticipate that she will be able to say a handful of words over the next few years and ultimately lose all ability to speak by the age of seven. 

This is the normal course that Sanfilippo takes, but there is a way to prolong the time that kids with Sanfilippo are able to speak. There are clinical trials where children are able to undergo enzyme replacement therapy in attempts to treat the disorder. Unfortunately, there are currently only two clinical trials for Sanfilippo available in the United States and they are incredibly difficult to get accepted into. 

The target participants are very young children aged 1-2 as they haven’t undergone irreversible brain damage yet. Initially, Stoop was told that Liv had a very good chance of being able to participate in a clinical trial, as she had only just turned two when she was diagnosed. However, the trial they were considering her for got canceled due to a lack of funding. It has now been two years since then, and her chance at getting into a clinical trial decreases every day.

Two years versus four years doesn’t sound like much of a difference, but due to the nature of Sanfilippo, it makes all the difference. Since children start losing their speech at around three years old, so it is crucial to get access to a trial before this occurs. 

Stoop noted that a seven year old named Sadie was diagnosed with Sanfilippo at two years old and received a weekly enzyme transfusion, and is now able to speak quite well, defying the odds for this disease. Haidyn, on the other hand (another child with Sanfilippo), was diagnosed late at the age of five, and now at eight has completely lost all of her speech. This is why it is so important that as many kids as possible can get access to these clinical trials while they’re young so they can work towards a cure. 

As it is unlikely that Liv will be chosen for a trial now, her parents are doing the best they can to make the most out of every day with her. Liv is extremely emotional, so she experiences very high highs and low lows. When she gets enough attention, she is super happy and often hyperactive, but when she doesn’t receive enough attention, she becomes depressed. 

It can be difficult to tend to Liv’s needs as she is unable to express herself the same way that a neurotypical child would – through their words. Stoop describes it as a guessing game to see what’s wrong based on her cues and symptoms, as she can’t verbally communicate if she’s in pain or explain what hurts. 

On the bright side, The Stoops live in Wisconsin and benefit from a great program called The Katie Beckett Program. This program offers them insurance due to Liv’s terminal illness, which has been an immense help for them. 

The program covers all of her appointments and diaper costs, but unfortunately Sanfilippo still affects them financially. Since Liv requires constant one-on-one supervision, her parents have had to cut back hours at work and dedicate more time to her while simultaneously taking care of their younger son. 

It is crucial for Liv to receive this constant attention as she has no concept of danger. Being hyperactive, she is always on the move, and needs to be watched at all times, especially in public settings. Stoop provides the example of Liv running away in a supermarket. Due to her inability to verbalize her thoughts, if someone were to try and help her if she was lost, she wouldn’t be able to tell them her name or anything about herself. 

All of this has taken a toll on the Stoop family, but they were lucky enough to find an incredibly supportive community of families of children with Sanfilippo. The Mucopolysaccharidosis Society hosts annual outings where they have speakers that discuss the most recent research and bring families with Sanfilippo together. Liv and her family were able to meet and spend time with eight other families dealing with Sanfilippo Syndrome. Having a community is crucial for these families in better understanding what their children are going through and ensuring them that they’re not alone.

In fact, Stoop created her TikTok account, “Saving Liv” in order to spread awareness on Sanfilippo and help other families. A fellow mother realized her daughter closely resembled Liv and had similar symptoms and ended up getting her diagnosis because of Liv’s TikTok account. 

Stoop encourages parents to look for answers if they notice any medical issues or delays in their children. She encountered many dismissive people who said things like, “Yeah, I knew a kid that did that and he’s just fine.” It’s important to recognize that there are millions of children with genetic disorders and not every symptom is just “a normal part of being a kid.” Stoop says to be your own advocate, trust your gut, and do your own research  as we have an imperfect medical system in America and it can be very difficult to get an accurate diagnosis. 

As for people who don’t have a child with special needs, Stoop advises them to be more mindful and less judgmental. When you see a child misbehaving or making noise in a store, it can be easy to jump to conclusions and judge, but you never know whether they have special needs or not. Liv won’t be disciplined or yelled at as she doesn’t understand the concept of doing something wrong or getting in trouble, which may cause some controversy amongst bystanders who don’t know about her situation. 

Truly, you never know anyone’s full situation just from looking at them, so we should all be a little more accepting. Now that you do know about Sanfilippo Syndrome, you can be more mindful and spread awareness. You can donate to the Cure Sanfilippo Foundation if you would like to help find a cure for kids like Liv.

Stoop painfully admits, “Getting her diagnosis has helped us understand why she is the way she is, but having the diagnosis and now knowing that her life expectancy is shorter has been extremely hard, and we face the challenge of attempting to live in the moment daily, now.” This is the heartbreaking reality for all parents of children with Sanfilippo.