Austin 5-year-old suffers from Sanfilippo syndrome
AUSTIN, Texas – Every parent’s worst nightmare is finding out that their child has a rare, incurable disease. This is the reality of an Austin family whose 5-year-old son is battling an illness called Sanfilippo syndrome.
They hope to help Simon and the other children with Sanfilippo syndrome one shot at a time.
Simon Croke has a knack for shooting a field goal. His parents say Simon has been a pro since he was two. His friends and family have nicknamed him “Little Steph Curry”. “He has extraordinary basketball shooting skills for his age,” said Alina Gorniak, Simon’s mother.
Her parents have been her biggest cheerleaders all her life, but from an early age Alina and Jeremy Croke had a hunch that something was wrong.
They noticed that Simon was struggling with tasks that should be simple for a child his age. At first they thought it was autism, but it was quickly ruled out. After several visits to several doctors, Alina and Jeremy finally learned that Simon was suffering from Sanfilippo syndrome.
“It is a fatal neurodegenerative disease. There is no cure and children will stabilize as toddlers and their development, then gradually lose the ability to walk, talk, eat and die as children. or at best as teenagers, ”said Alina.
According to Cure Sanfilippo Syndrome, it is a rare and fatal disease which is the result of a missing enzyme deficiency which causes a build-up of toxic substances in the brain. It’s like Alzheimer’s and dementia, but in children.
“Life expectancy is usually adolescence for children with SanFilippo syndrome, but it is preceded by many years of severe disability as one thing after another begins to fail in the brain and body of these children. children, ”said Glenn O’Neill, President of the Cure Sanfilippo Foundation. .
Despite Simon’s great hand-eye coordination for basketball, he still faces the harsh effects of Sanfilippo. “We worry every day: is this the last day he can do this or is it the last day he can do that? We don’t know,” Alina said.
Simon’s family say without a cure, they fear their son will never reach his full potential. They hope that sharing his gift and his brilliant mind will inspire others to join the fight to help Simon.
“It’s their only hope for a kid like Simon to be able to keep shooting basketball. I mean, no one wants their kid to stop talking, no one wants a kid to stop walking, to stop walking. swallow, ”O’Neill said.
Simon’s parents ask people to share or donate to HelpSimon.com.
“We know that without a cure it’s not going to be a very long life and probably a very painful end to her life, so if we can make it happen, oh my God I can just see those imaginary little hearts coming out of my heart with gratitude, ”Alina said.
The money raised will be used to finance two promising new therapies that scientists have found and which appear to be able to fight Sanfilippo. This would then pave the way for a clinical trial and a wave of possible treatments.