Simon Croke is a seven-year-old boy whose parents have been fighting for his life since he was a toddler. As an infant, there were some subtle clues that he was struggling developmentally — being unable to breastfeed despite exhaustive intervention, a cranium size above the 90th percentile, and being significantly behind in milestones like rolling over, for example. For Simon’s parents, Alina Gorniak and Jeremy Croke, it began to be concerning. They suspected based on his intense focus on certain activities (like spinning a tambourine on the floor with incredible mastery, for instance) that he might be on the autism spectrum.

“It was so confusing because he was the sweetest, lovingest, happiest little boy with amazing eye contact,” recalls Gorniak. “His engagement was just stellar. We thought — and so did the pediatrician — that when it came to reaching milestones, maybe Simon was on the tail end of the bell curve. But then by his 12-month appointment. Jeremy and I were like, ‘No, we can’t keep saying that he’s on the tail end of the bell curve, because he has such a huge gap.”

It was too early to conclude that Simon might have autism, but the family decided it was time to take action through physical and speech therapy, the beginning of an extensive journey toward his eventual diagnosis: a rare, neurodegenerative disease called Sanfilippo Syndrome.

What is Sanfilippo Syndrome?

Essentially, children born with Sanfilippo Syndrome are missing an enzyme (or have an enzyme that is not working properly) that keeps the body from metabolizing heparan sulfate. Because newborns are not screened for it, it is very likely that they won’t be diagnosed until they are toddlers, like Simon. At that point, the child will likely show signs of losing skills they’ve gained, suffer seizures or experience mobility issues. Often referred to as “childhood dementia,” it is terminal, with many children not surviving to age ten (curesanfilippofoundation.org). There is no known cure.

After having gone to countless appointments with specialists ranging from audiologists to neurologists, it was the appointment with a geneticist that finally brought the diagnosis in a devastating turn of events. After seeing the geneticist and doing lab work there, the family met with another specialist, then ended their day with dinner and bedtime, just like any other busy day for a medically complex child. Except Gorniak’s phone was dead when the geneticist tried to call her with the lab results. Simon’s mom found out about the diagnosis from the packet she received from their second appointment, which listed medical history from all other network providers. At the top of the results (found hours before) was “Sanfilippo Syndrome.”

“I look at the date of onset and it is essentially his birthday,” she says. “And I think, ‘This has to be a mistake. I have never heard of this, and there is no specialist that would have just put it in this packet without telling me.’ So I Google it, and I’m speechless. I’m in tears, and I think ‘fatal neurodegenerative disorder, children will die as children.’ What a thing to take in at eight o’clock at night, alone at home without any guidance. Like, this can’t be true.”

Breaking the news to her husband that night, she said, “I just want Simon to be loved and to love for the rest of his short life. Maybe we should just sell everything we own, you know, travel the world with him. It was this emotional reaction to it, you know? And I just cried all night long. I didn’t sleep at all. Yeah. But you know, shortly thereafter, I decided okay, I’ve got to be the one taking care of Simon. So I am going to try my best to push this devastation aside and find out what I can do, if anything.” 

How Simon has progressed so far with treatments

Gorniak, a breast cancer survivor who has had to navigate the complexities of fighting illness before, began to take action for Simon. Gorniak’s first step was to contact the Cure Sanfilippo Foundation, a nonprofit that gives invaluable guidance to families like theirs. They prompted them to find out what type of Sanfillippo Simon had, as there are four kinds, each corresponding with a particular missing or malfunctioning enzyme: A (the most common), B and C (rarer), and D (most rare). They found out that Simon has type B. 

Receiving the diagnosis in October 2018, Simon’s mom immediately started looking for clinical trials to find treatment for him (a suggestion from Cure Sanfilippo), and they found out there were two for Type B in the nation. Simon got into one in Ohio (he was one of 11 kids), and he received gene replacement therapy through a single injection that enabled him to “plateau” (i.e. maintain his development at that point).

In fall of 2022, things began to take an unfortunate turn. “The first thing was that he started mixing up words that he’d known well for years, like mixing up letters of the alphabet, mixing up numbers, mixing up colors…it was terrifying. We thought, “Is this what it looks like to start witnessing the decline?’”

A new goal

The family is always striving for a cure through fundraising with the Cure Sanfilippo Foundation, but they will do whatever they need to do to help their son in the meantime. For now, they’ve put their hope in Everlum Bio Rare Disease Research, a company that performed an amenability study on Simon to see how Sanfilippo Syndrome affects him specifically, and what drugs are currently FDA approved that could help his condition.

“It’s taking a look at Simon’s DNA and specific mutation to see which of the thousands of FDA approved drugs out there have therapeutic potential,” Gorniak said, adding that this is an out-of-pocket expense of $50,000 for their family, which is why she started fundraising for this specifically.

Luckily, Everlum has already taken a skin sample to begin their research on Simon, and they allow the family to pay in installments. They’ve been able to do that thanks to the generous donations they’ve already received, but they need more to pay in full.

How to help through the GoFundMe

Help Simon by donating to his GoFundMe, which has received over $17,000 thus far. It’s worth noting that this research may not only help Simon individually, but contribute to the overall goal of finding a cure and treatments for this rare, terminal childhood disease.

Donate to the silent auction

Gorniak is organizing a silent auction called March Against Madness (it coincides with March Madness), that begins at midnight on March 19 and ends on April 6 at 6pm. Patron Saint’s Brewery will have pictures of the auction items/services on display at their establishment throughout that time, along with QR codes for people to place their bids. Patron Saint’s will also host the auction finale on April 6 from 4-7pm, when winners can claim their prizes. Winners need not be present to win.

Bidders can also use the online auction to participate. Find it here.

Another way you can help is to donate a service or product to the auction. If you’d like to do that, use this donation form or contact Alina Gorniak directly at [email protected] with your name, donation, a short description of the donation and its estimated value.

Alina and Jeremy are from Toledo, and though they now live in Austin, they are still very connected to the Glass City and visit all of Simon’s grandparents who reside in the Toledo area as much as they can. 

Getting to know Simon Q&A

Favorite programs to watch: “Signing Time,” and music by Jack Hartman, Patty Shukla, and Elmo. He also loves the short film version of “Going on a Bear Hunt” by Michael Rosen.

Favorite books: All the Eric Carle books, and the kid-tailored books “Good Morning Yoga” and “Goodnight Yoga.”

Favorite spots in Toledo: All the Metroparks, especially Swan Creek, which is the closest to his grandparents. Imagination Station, the Toledo Zoo and the Main Library downtown are favorites as well!

Favorite Toledo restaurant: Zingo’s Mediterranean in Perrysburg.

Favorite activities: Shooting basketball hoops, playing on playgrounds, building with blocks, listening to stories, putting together large floor puzzles, playing disc golf with Dad, listening and dancing to music, running on trails, loving on his stuffed animals and learning sign language.