Seeking the million-dollar answer: Austin parents calling on worldwide support in fight for their only child's life

Alina and Jeremy Croke with their son Simon, who is battling Sanfilippo Syndrome. | Courtesy photo

Five-year-old Simon Croke of Austin likes to run. Rather, his mother said, he loves it.

Simon takes off on the paved trail just across the street from the Croke home almost every day. Arms pumping and legs stretching to make each step just a little bit faster, he races across the trail, letting out gleeful giggles as his destination comes into sight: one of his favorite footbridges. He loves bridges too, Simon's mom says, but then again there's a lot in life he loves. Looking back to make sure Alina Croke is still trailing behind, mother and son may share a smile and a wave, but a tightness lingers in Alina’s chest. For any other family, it’s just another day doing what a 5-year-old does. Any other parent may wonder if their child may be soon taking this path on a bicycle instead. 

Alina knows the days that her son can run are numbered, and instead wonders exactly how many more times they will be able to take this trail before she must walk it pushing Simon in a wheelchair and then, someday, must walk it alone. Alina tries to put her thoughts of the future to the side and soak in the present with her son, knowing what lies in store for tomorrow could shift at the gust of a bird's wing.

Simon has Sanfilippo Syndrome, a rare neurological disease that affects children with 100% mortality rates. This genetic disorder causes mental and physical deterioration which ultimately leads to children losing their ability to speak, swallow, walk and many other learned skills. In late stages, the disease causes seizures, movement disorders and cardiorespiratory failure, becoming fatal by mid- to late-teen years.

After fighting for her own life just a few years ago, Alina is now fighting for her son’s. She and her husband, Jeremy, have launched a GoFundMe campaign at HelpSimon.com working to raise $1 million for Sanfilippo clinical trials. 

Heart of a fighter

Simon was Alina and Jeremy’s first child, and a miraculous conception by all accounts. In 2013, Alina was diagnosed with triple negative breast cancer, a difficult to treat and aggressive form of cancer. Treatment, she said, was successful but brutal, and included the decision to have a lumpectomy on one breast. 

The diagnosis for Alina came the very month that she and Jeremy decided to start trying for children. They wanted multiple. The Crokes planned to harvest eggs before Alina’s cancer treatment began, but her fertility specialist needed a minimum of 10 weeks for that process, while her oncologist warned that with her highly-aggressive cancer—a level eight out of their nine-level aggression scale—Alina needed to begin treatment within just three weeks if she wanted to ensure she’d live to bring children into the world at all. 

“My husband and I made the decision that, if there is no me, then obviously there aren’t any children,” Alina recalled. “So we opted to start my treatment as soon as possible.”

After successfully making it through her cancer treatment and lumpectomy, Alina knew her odds of becoming a mother to biological children were unlikely; her hormone tests to measure her ovarian reserve came back hopelessly low. 

“I always imagined this enormous gumball machine with all white gumballs and just one blue gumball in the middle representing Simon, saying ‘no, I’m here, come find me,’” Alina said. “‘There is one viable egg left, please come find me.’”

And find the blue gumball the Crokes did. By a miracle, their own and only child was born about two years after Alina’s cancer treatment was completed. The name Simon, Alina said, came to her during pregnancy and felt right. 

“It seemed to suit him. Thankfully, Jeremy agreed,” she said. “And then, after Simon was born, it still felt right. He looked like a Simon to us.”

The world turned upside-down: Simon’s diagnosis

Simon was first suspected to be on the autism spectrum before receiving his diagnosis at almost two-and-a-half. Sanfilippo, a virtually unheard-of disease, was far from the minds of the Crokes and their medical providers. While Alina was unaware at the time, the first manifestation of Sanfilippo began when she and her infant had extreme difficulty with breastfeeding, ultimately adding supplementation after five weeks of trying and stopping altogether at 10 weeks of age.

By Simon’s first birthday, the Crokes noticed that his significant milestones such as rolling over and crawling were either significantly delayed or had not come at all. Simon’s first word—”Mama”—came at almost a year-and-a-half. Months would pass before the next word came. He didn't take his first steps until 17 months of age and full-on walking took months longer than it would for a neurotypical child. 

Because of the delays and the peculiar way that Simon played with toys—patting, shaking or spinning rather than the intended use—the Crokes at first considered the possibility of Simon being on the autism spectrum. With Simon’s strong eye contact and social skills, however, that possibility was dashed. 

Once Simon’s developmental progress became a serious concern, the therapies began: occupational, speech, physical. 

“We wanted to discover something deeper. We wanted to find out what was wrong,” Alina recalled. The exploration continued with neurocognitive testing, which revealed he was only about halfway as developed as he should be by his age.

“It crushed us, really,” she continued. “At about 15 months of age, he was developmentally about a seven-and-a-half month old. We realized he wasn’t hitting these milestones, and testing for the less obvious ones was heartbreaking. But we were engaged parents, we were so determined.”

With no clear explanation for this, the Crokes shouldered on, seeking new specialists and only being met with more confusing developments: Simon was discovered to have moderate bilateral sensory-neural hearing loss but no vision problems, a clear EKG and echocardiogram but a brain MRI that revealed macroencephaly (an abnormally large cranium).

Only after submitting a urine sample and full-body X-ray to a pediatric geneticist did the Crokes receive the final prognosis. While waiting on the geneticist’s verdict, Simon was brought to his therapies and was making significant developmental process, giving Alina a glimmer of hope until the day the geneticist called. 

“I remember it was a late-in-the-day appointment, around 5:30. As we were packing up our things, I noticed that my phone had died,” she recalled of the day she received her son’s diagnosis. "Jeremy and I were both there. It was raining as we drove home and we felt on cloud nine as Simon was improving developmentally." The Crokes were given their summary of discussion packet upon leaving, which contained summaries from providers all across Simon’s network, including the geneticist. They came home and put their little boy to bed, had dinner with a friend and celebrated Simon’s progress before Alina casually picked up the packet to flip through it. In the list of diagnoses, she saw something unfamiliar. 

“I see Sanfilippo Syndrome and I think, ‘I’ve never heard of this. I go to every single appointment, I would have seen this. It has to be a mistake,’” she said. In a cruel combination of poor timing and coincidence, the Crokes had to learn of their son’s fatal disease through paperwork and Google, a harsh and unforgiving way to learn that their son's life will be cut short by decades. Alina quickly turned on her recharged phone to find that the geneticist had tried to call and deliver the news. 

“We learned in such a terrible way. We learned that kids with this condition plateau in their development at a very young age, around 3 to 5 years of age, and after that plateau comes a very progressive decline,” Alina said, falling quiet for a moment. “They lose their ability to walk, talk and eat.”

At the time Simon was two-and-a-half. The Crokes knew his decline could come at any month. Now, with Simon at 5 years old and still not exhibiting any signs of decline, that timeline has reduced to any day now. 

But if there was one thing history told, it was that the Crokes don't give up easily. 

Celebrating Simon

Simon is Alina’s light in the darkness. He brings positive energy wherever he goes, she says, and can reset the moodiest of moods with his smile. 

“He was that way as an infant and toddler and he’s that way now,” she said. 

According to the National Library of Medicine, children with Simon’s subset of Sanfilippo rarely live to see past 18. Learning of her one and only child’s fate—the child she fought against her own life-threatening challenges and incredibly low odds for, the boy that brings the sun with his smile and clears clouds with his laugh—devastated Alina and Jeremy. The moon saw many tears shed and sleepless nights as the parents grew to understand the odds of buying Simon his first car, sending him off to college or seeing him at a wedding altar have been severely decimated—nearly destroyed altogether.

“In his short life, I just want Simon to love and to be loved,” Alina said. “How do we let him enjoy the rest of his days?”

Someone in Alina’s shoes could easily be angry, demand divine answers and constantly ask why they and their family were chosen for this earth-shattering heartbreak.

“Even when I was diagnosed with cancer, I never felt this angry, why-me type of mentality. I was just distraught, I was terrified. I was just beginning to live my life, I wasn’t ready to leave,” she said. “And I felt similarly when learning of Simon's diagnosis. I wasn't angry. I had no no one to blame. I thought, ‘he just came to us,’ you know, he can't just…  leave. He just came to us to this world. He has so much to give, so much to offer, that we haven't even begun to uncover at this point.”

Alina wonders how much more trauma her family can take. The challenges extend beyond the major diagnoses; Simon can’t buckle a buckle, button a button, zip a zipper or tie a shoe, has been potty training for over a year and needs roughly 20 hours of various therapies a week. So with Simon requiring near-constant care and engagement on a daily basis, it’s as if the Crokes are running a hurdle race… across a bed of nails. 

“These daily challenges in this overarching challenge of the diagnoses feel very lonely,” she said. “We get through this with the support that is given to us. It’s this energy that I feel from around the world. They’re not even with us, in our presence, but I receive words of encouragement from people sharing our story. The support that’s been coming from our community of Austin embracing our story… By this love and company from around the world we are seeing his bright light shine.”

The race against the clock

Sanfilippo Syndrome is often referred to as the childhood Alzheimer’s disease. Born with a single gene defect, children suffering from Sanfilippo Syndrome lack an enzyme that enables their bodies to break down cellular toxins. Without this enzyme, the toxins build up in the bodies and brains, causing a series of debilitating effects. There is currently no cure or treatment approved by the FDA for Sanfilippo Syndrome. 

With toxins building in Simon’s body every day, the Crokes knew they must act quickly. They discovered the Cure Sanfilippo Foundation, a nonprofit organization that funds research aiming to create FDA-approved Sanfilippo Syndrome therapy. The Help Simon initiative is seeking to raise $1 million in funds to support the foundation in two new research pathways that could improve cognitive function or halt disease progression. They hope to see an effective treatment—or even a cure—fast-tracked for FDA approval before Simon is too far gone.

"The thought of losing him is just unbearable,” Alina said. “So we are working tirelessly. Time is of the essence because Simon and other kids with this condition don’t have time to wait.” While he participated in a clinical trial in 2019, Alina said continual therapies and trials are necessary to maintain the length and quality of his life. With Simon’s development slowing to a crawl, the Crokes’ situation is urgent. 

Is $1 million an insurmountable ask? Ask the numbers: it would be a $1.05 donation from every resident of Austin, or about 3¢ from every Texan. 

Simon has been sinking baskets in his Little Tykes hoop practically since the moment he could hold a ball. His parents don’t want to see his love and potential for basketball cut short. Alina’s plea is to all mothers, fathers, grandparents, or any guardians that love a little boy of their own just like Simon, a boy who likes to play pretend, read stories, hug his mama and run around under the sun. She isn’t sure of how aware Simon is of his own disability, but she and Jeremy remain painfully conscious of the fact that Simon will one day say his last “I love you” to them and shoot his last three-pointer if the clinical trials come too late.

“To be able to say certain things that may be on your mind one day and all of a sudden be unable to say them anymore, it just breaks my heart. They realize their feet won’t pedal like they used to, walk or run like they used to,” Alina said, wiping at tears. “That’s why it’s our mission as parents to help find a cure for Simon before it’s too late.”

Every cent donated to Help Simon matters, which has raised almost $60,000 in its first week. Alina hopes those who can’t help financially can share her family's video and story far and wide, through social media, word of mouth or any outlet they can think of—yard signs or grocery store fliers, even. As introverted people, the Crokes have been unsure of putting their story out into the world, but—as just about any parent would agree—their son is worth any level of discomfort. No matter the odds, the financial cost or the mental tax, something surges in a parent whose child is in danger, giving just two people the strength to move mountains pebble by pebble. 

“Simon is so sweet and affectionate,” Alina said. “His love, his smile can melt your heart. He gives great hugs. He wants to interact with you, he wants to know you, play with you, snuggle with you. And we just can’t bear to watch him lose those things.”

“These clinical trials are expensive. We're eternally grateful for those folks that have watched and donated and shared thus far to help us spread awareness. I know we have a long way to go, so we're we're hoping that folks will embrace our story and help us share it in as many ways possible. That's what gives us hope.”

Even if times runs for their own son to participate in the clinical trials, if the Crokes' campaign is successful, then Simon’s light will have illuminated the path for another child walking in the darkness of Sanfilippo—and help parents like Alina and Jeremy chase their carefree child down his favorite trail for another day.

Watch a video about the family's story on YouTube.

The family's GoFundMe page: https://www.gofundme.com/f/helpsimon