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 their legs, 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 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 Hereditary Spastic Paraplegias.
SPG3A is the most common childhood spastic paraplegia type. Yet, the only pediatric HSP registry run by Boston Children’s Hospital, Early Onset Hereditary Spastic Paraplegia (HSP) Natural History Study, only had 11 children with SPG3A as of 31 October 2022.
While the Carter Foundation and several researchers are working on finding a cure for SPG3A, more patients are needed with future clinical trials.
We set up this community to connect SPG3A families with researchers and with each other.
We also hope to do patient outreach worldwide to identify more cases of SPG3A and bring more people into our community.
In finding a cure for rare diseases, there is strength in numbers!