WHO ARE WE?

Kids with SPG3A was established by two families with young children who have spastic paraplegia type 3A.

Emily was diagnosed with SPG3A in 2020 when she was 18 months old.
Carter was diagnosed with Cerebral Palsy soon after missing developmental motor milestones when he was six months old. His diagnosis was revised to SPG3A when he was 5, after genetic testing at Boston Children’s Hospital.
Both Carter and Emily have variants that are “de novo”, not inherited from their parents, and their symptoms are complex, affecting not only their legs but also their upper limbs and oral muscles.

Carter’s grandfather, Joseph Avellone, MD, has extensive experience in the health and biomedicine industry.
He started the Carter Foundation for Neurologic Research in order to sponsor research into
the cause and treatment of rare neurologic diseases in children. Dr. Craig Blackstone, Chief of Movement Disorders, Department of Neurology, Massachusetts General Hospital serves as the Senior Scientific Advisor to the Foundation and is a prominent research scientist with a long term focus on the Hereditary Spastic Paraplegias.

The two families work closely with researchers and will share research updates with other families on the Kids with SPG3A Community Platform.