The family of a 12-year-old boy who was diagnosed with fatal brain disease is raising money for a gene therapy clinical trial that could potentially save his life and other children like him.
Connor, son of Marisa DiChiacchio and Mike Dobbyn, has a rare degenerative brain disorder called Sanfilippo Syndrome Type C, which is akin to Alzheimer's but found in children and it's fatal. Currently, there is no FDA-approved treatment or cure for this disease.
"When Connor was born, our hearts were so full!" the GoFundMe campaign page reads. "We had never loved like this before. He is full of love. He has a brilliant smile and loves sports, especially basketball. He hugs everyone and is unfailingly kind. The world is a better place with him in it."
"He will develop movement disorders...and eventually...die"
According to the campaign, Connor lacks an enzyme that prevents the build-up of toxic storage material in his brain. The build-up damages the brain and causes rapid degeneration. "He will endure a lot of pain and suffering. All in the coming years."
Years earlier, Connor was diagnosed with Autism, CBS Philadelphia noted. Then his teacher noticed a change in the boy. The disease is characterized by a rapid progressive degeneration. He would eventually stop walking, stop talking, and then stop being able to feed himself. He will develop movement disorders and seizures.
"[He will] develop movement disorders," his mother Dobby told CBS Philly, "and eventually he'll...die." Dobby said that it felt like a bomb was dropped on them, and she remembered the geneticist telling them that it was a life-shortening condition. "Don't Google this yet," the geneticist said as they don't have a hundred percent conviction on the diagnosis yet.
There is still hope
Researchers at UT Southwestern in Dallas, TX, are ready to conduct the first-ever gene therapy clinical trial for Sanfilippo Syndrome. Prior research for this type of gene-therapy showed that it could stop the disease in pre-clinical models. The clinical trial will be the next crucial step to determine if earlier research will show similar results in children.
However, millions in funding are needed for the gene therapy drug productions and the actual clinical trial. The fundraiser's goal is to raise $3 million to fund the clinical trial. This will give Connor and others like him a chance at life.
His parents said that they are not guaranteed that Connor will be among the children that will be accepted to be part of the trial.
"But we have hope, and it's his only chance. And without funding for the clinical trial, his future is certain: death. This truly is our only hope."
How to help
Those who are able can donate. All donations will go to the 501c3 nonprofit Cure Sanfilippo Foundation (Tax ID: 46-4322131) to fund the clinical trial. Donations are tax-deductible. You may also share www.SaveConnor.com and make more people become aware of the campaign or send leads or tips San Filippo Foundation here.
