SACHSE, Texas — Parents across the world, bound by the cruel diagnosis of a “childhood Alzheimer’s” type disease, are pleading for funding to spur research that might save lives, or at least improve and lengthen them.
Declan Sink, the son of John and Katharine Sink in Sachse, Texas was diagnosed with Sanfillipo Syndrome around his fourth birthday. He’d become less verbal, was hyper-active and anxious, and exhibited other symptoms that often lead to a misdiagnosis of autism.
"When you find out what it is, it's the worst thing ever,” Katharine Sink said.
Sanfilippo Syndrome is a rare genetic metabolic disorder, affecting about 1 in 70,000 births, where children are born with an inherited condition caused by an enzyme deficiency. Children with Sanfilippo often peak cognitively around their third year then decline until they are unable to speak, unable to feed themselves, and become immobile. Most diagnosed with the syndrome die in their late teens.
"They get dementia," Sink said. "They lose their skills. Eventually he won't be able to walk anymore. He'll be in a wheelchair. The more you read about this and you do the research you just don't want to read anymore."
But when they did read more they found the Cure Sanfilippo Foundation. The foundation, website, and information resource were started by a pediatrician and her husband in Columbia, South Carolina. Cara and Glenn O’Neill began their effort after their daughter Eliza received the same diagnosis.
"For me I had no idea that a disease like this could even exist. A disease where your child goes backwards,” Glenn O’Neill said. "It's unusually cruel that you begin to meet your child and see their personality only to very quickly have it all taken away."
Parents across the United States and across the world are coming together on the foundation's website, sharing their stories, raising awareness, and raising millions for research. Today, there are few effective treatments and there is no cure.
"And we're fighting for her as much as we're fighting for all of these children that have this terrible, terrible disease,” O’Neill said of his daughter.
As for Declan Sink, his 5th birthday is on Thursday. And his parents admit that birthdays are difficult to celebrate, because they usually mark another year of cognitive and physical decline. This is Declan’s first birthday since his diagnosis.
"And realize this is something we need to fight for now. We needed a cure yesterday. We needed a treatment yesterday,” Katharine Sink said. "We want to get something for him. You will do anything for your child, I mean anything."
So for his birthday, they are raising money for the Cure Sanfilippo Foundation through the Facebook page DeclanTurns5.com. All proceeds raised will go to the nonprofit.
"You'd like something to at least try to help,” John Sink said.
“Knowing that you may not even get something to try, makes it really bad,” he said as Declan jumped into his lap for a hug from his dad.
"Once you've lived through a little bit of it like we have, and we haven't seen the worst,” Glenn O’Neill said, “you don't want any other parent to go through this journey."