AUSTIN, Texas - Every parent's worst nightmare is to find out their child has a rare, incurable disease. That is the reality for one Austin family whose 5-year-old son is battling a disease called Sanfilippo Syndrome.
They hope to help Simon and other kids with Sanfilippo Syndrome one swish at a time.
Simon Croke has a gift for shooting hoops. His parents say Simon has been a pro since he was two. His friends and family nicknamed him ‘Little Steph Curry'. "He has extraordinary basketball shooting skills for his age," said Alina Gorniak, Simon’s mom.
His parents have been his biggest cheerleaders his entire life, but, from a very early age, Alina and Jeremy Croke had a gut feeling that something just was not right.
They noticed Simon was struggling with tasks that should be simple for a child his age. At first, they thought it was Autism, but that was quickly ruled out. After multiple trips to several doctors, Alina and Jeremy were finally told Simon has Sanfilippo Syndrome.
"It's a fatal neurodegenerative condition. There's no cure and kids will plateau as a toddler and their development, and then progressively lose their ability to walk, talk, and eat and die as children or at best as teenagers," said Alina.
According to Cure Sanfilippo Syndrome, this is a rare and fatal disease that is the result of a missing enzyme deficiency that causes toxic storage to build up in the brain. It is like Alzheimer and Dementia, but in children.
"Life expectancy is usually in the teens for children with SanFilippo Syndrome, but it's preceded by many years of severe disability as one thing after another begins to fail in these children's brains and bodies," said Glenn O’Neill, President of Cure Sanfilippo Foundation.
Despite Simon's great hand-eye coordination for basketball, he is still facing the harsh effects of Sanfilippo. "We worry every single day: is this the last day he'll be able to do this or is this the last day he'll be able to do that? We don't know," said Alina.
Simon’s family says without a cure, they are worried their son will never reach his full potential. They hope sharing his gift and bright spirit will get others to join the fight to help Simon.
"It's their only hope for the child like Simon to be able to continue to shoot basketballs. I mean, no one wants their child to stop talking, no one wants a child to stop walking, to stop swallowing," said O’Neill.
Simon’s parents are asking people to share or donate to HelpSimon.com.
"We know without a cure, it's not going to be a very long life and likely a very painful end to his life, so if we can make this happen, oh my gosh, I can just see these little imaginary hearts coming out of my heart with gratitude," said Alina.
The money raised will go towards funding two new promising therapies that scientists have found that look like they are able to combat Sanfilippo. This would then pave the way towards a clinical trial and a wave of possible treatments.