Joey's Story

 Joey (right, age 1 year) with brother David, mother Sara, and father Sam

Joey (right, age 1 year) with brother David, mother Sara, and father Sam

 

Josiah (Joey) was born on March 2, 2014, a perfectly healthy baby with ten fingers and ten toes. To his parents, Sam and Sara Scaparotti, it was love at first sight. His development progressed as expected until about 6-8 months of age. He’d smile, laugh and interact, sit up, reach for toys, and feed himself. But at 9 months, he still had a very exaggerated startle response, would not attempt to crawl and had very few vocalizations. Concerned for his progress, Sara began researching the many possible causes of these delays, and they began their journey through countless specialist appointments. In July of 2015, Joey was diagnosed with infantile GM-1 gangliosidosis, a rare and fatal degenerative neurological disease.

A baby with GM-1 will often appear normal until the onset of the disease (usually by 6 months of age), but developmental regression eventually occurs. Signs and symptoms may include neurodegeneration, seizures, liver and spleen enlargement, skeletal irregularities, joint stiffness, distended abdomen, muscle weakness and an exaggerated startle response.

Like Joey, babies affected by the infantile form of GM-1 are frequently diagnosed by the cherry-red spot on the retina of the eye.  Around 10-14 months of age, children may start to exhibit trouble tracking and/or focusing with their eyes, so parents schedule an appointment for an eye exam.  The cherry-red spot is quickly seen and an initial diagnosis of Tay-Sachs or similar devastating disease is made. There is currently no cure or treatment for GM-1, only symptomatic treatment for neurological signs and symptoms.

Joey fought his illness with a tenacious spirit, often surprising his family and caregivers by his strength and physical perseverance.  On August 12, 2017, he finally took his final breath, at home in the loving arms of his parents. Though he never spoke, his life affected countless other lives, and his legacy lives on in the hearts of all who love him and cared for him.  

His story, his life, and his heart are the inspiration for all of B Brave's efforts.

 

 
 

Joey's Eulogy