TOLEDO – Alina Gorniak and her husband, Jeremy Croke, both native Toledoans, were about to be parents to a brand new baby boy they planned to name Simon.
It was May 15, 2016, and the delivery went as planned. Soon after, Gorniak, a well-educated woman, could feel that some things were not adding up.
“I have that momma sense,” Gorniak said. “As soon as he was born, I thought something was not right. The initial sign was breast feeding. It was like a square peg in a round hole. Something was not working. Then, he wasn’t meeting his milestones: is he rolling over, is he babbling, is he taking his first steps?
“During that first year, going to wellness checks at the pediatrician’s office, they would say he could be on the tail end of the bell curves,” she continued. “We held onto hope for that until about 10 months.”
Around that time, Gorniak said Simon was gifted a tambourine by his uncle. It wasn’t long before Simon “started spinning the tambourine on the ground, almost like he had been doing that the previous 10 months,” Gorniak said, recalling Simon’s instant knack for the activity.
“We thought maybe he was on the autism spectrum,” she said. “The pediatrician said Simon was too young for them to make that diagnosis. By 12 months, he was just not hitting milestones.”
Ultimately, Simon was diagnosed with a rare genetic disease called Sanfilippo Syndrome (Type B). Google this disorder to learn about the disease – there are several types. It “is a form of neurodegenerative disease that typically begins showing symptoms in early childhood, such as developmental delays, behavioral problems, and sleep disturbances. That is then followed by severe cognitive decline, loss of motor skills, and a shortened life expectancy.”

Children diagnosed with Sanfilippo Syndrome Type B have a life expectancy of 12-17 years.
Simon, who is non-verbal, wears a Boston brace, which is primarily used for scoliosis, 16 hours a day. He attends 20-plus therapy hours and/or medical appointments a week – from geneticists to ophthalmologists, to ear, nose and throat specialists, audiologists, and orthopedic specialists.
Simon also wears hearing aids because he cannot hear high-frequency sounds. On a side note, Simon also loves blueberries, and his favorite TV show is Signing Time!
Toledo natives move to Texas
Gorniak, 49, and Croke, 46, graduated from Central Catholic and Northview high schools in 1995 and 1998, respectively. They have lived in Austin, Texas, since 2007.
“We go back to Toledo approximately six weeks each year, definitely in July and for two weeks at the end of December,” Gorniak said. “Both sets of our parents live in the Toledo area.”
Gorniak has a Master’s degree in Education from the University of Toledo and a Bachelor of Science degree in Dietetics from Bowling Green State University. She is Simon’s primary caregiver. Jeremy works in sales with NetSuite.
“We knew we had found each other after two months of dating, and then he said he’s moving to Austin,” Gorniak said of their relationship. “I told him, ‘I can’t tell you what to do, but if you hold off a while I might move with you.’ I was a teacher at Springfield High School at the time.
“We went to Austin and he proposed and we moved within a few months.”

Gorniak said their family is blessed to have a one-parent income and still be able to care for their son at home.
“Fortunately, my husband’s income can afford me to be to Simon’s primary caregiver,” she said. “The role I have, how expensive it would be to hire someone to take Simon to all these medical appointments…He’s 100 percent dependent on us.
“Looking at him, if you didn’t know he had this condition, you wouldn’t think about it,” she said. “He has a great smile, engaging eye contact … Unless he’s in significant pain, he’s a happy guy. We do everything we can to maintain his skills or anything he can do independently. We want to maintain that, as well as his dignity, with the absolute hope that as research catches up to the condition, it can hold him where he is, if not regain some aspects he has lost over the years.”
One painful aspect of Sanfilippo Syndrome is the fact that the disease is genetic, meaning it can be passed down from generation to generation. Gorniak and her husband did not realize this until their son was diagnosed and they were tested.
“We are carriers of the condition, a genetic condition, but we didn’t know that,” Gorniak said. “We had no symptoms that showed we were carriers of the condition; the chance of having a child that has Sanfilippo Syndrome, when both parents are carriers, is only 25 percent.”

Sanfilippo Type B fundraising deadline is Dec. 1
Alina Gorniak and Jeremy Croke, along with several other families across the country who have children with Sanfilippo Syndrome Type B, are part of a fundraising effort to reach a goal of $3.8 million that would go to fund the production of the tralesinidase alfa, an investigational enzyme replacement therapy.
The fundraising effort ends Dec. 1.
“We’re not naive that there’s going to be anything miraculous,” Gorniak said. “This is a treatment, not a cure. This is the best thing available and it is proving to be safe and effective in phase 1 and 2 clinical trials for enzyme replacement.”
“Simon has been waiting nine years – his entire life – for FDA approval for treatment. This program is within reach. We are so close to our $3.8 million goal to reach by the end of the month. We only need $600,000 to reach that goal.”
Gorniak said as many as 14 children would receive treatment if the five-week fundraising goal is reached.
“If we do not make the deadline, the biopharmaceutical company won’t have the funds to help 14 kids, so the money will be held for some some future opportunity,” Gorniak said. “I am so optimistic we will make this goal. I don’t forsee that this is not going to be an option for us. I just feel we are going to hit our goal.”

Anyone wishing to donate to the fundraiser can go online to HelpSimon.com, which leads to a Go Fund Me page. Donations are tax deductible.
Lamar Advertising Company, which has offices in Toledo, is donating five billboard advertisements around Toledo for the fundraising effort. Gorniak said Lamar has also put up billboards in Austin, New York, Pennsylvania and Louisiana.
“Lamar has been so generous and amazing for us and other parents around the country,” Gorniak said.
To learn more about Sanfilippo Syndrome visit curesanfilippofoundation.org.


























