According to a story from Religion News Service, Gurjot ‘Jo’ Kaur has developed a reputation as a potent civil rights lawyer. Her career was motivated by experiences such as ableism impacting her deaf sister, her working-class background, and discrimination endured by her father as a Sikh immigrant who often sported a traditional turban. When Jo’s son Riaan was born with the rare disease Cockayne syndrome, she turned her skills to rare disease advocacy.

About Cockayne Syndrome

Cockayne syndrome is a rare and fatal genetic disorder. Also called Neill-Dingwall syndrome, it causes problems with neurological development, eyes, aging, and growth. The mechanism of the disease involved a problem with the process of DNA repair, and Cockayne syndrome is associated with the groups of disorders known as leukodystrophies, which are characterized by white matter degradation. It is caused by mutations affecting either the ERCC6 or ERCC8 genes. Symptoms include an aged look, joint contractures, dwarfism, microcephaly, hypersensitivity to sunlight, skin abnormalities, multiple eye abnormalities (optic atrophy, involuntary movement, corneal opacity), premature aging, hearing loss, and degeneration of the nervous system. There are multiple types of Cockayne syndrome of varying severity. There is no cure or disease-altering therapy for the syndrome; treatments can help improve symptoms and may include physical therapy, surgeries, protective clothing, and sunscreen. The disease leads to premature death, which can occur in early childhood or into adulthood in less severe cases. To learn more about Cockayne syndrome, click here.

Riaan and Jo’s Story

Riaan was diagnosed with type II Cockayne syndrome, which is the most severe form. With little time to work with, Jo tapped into all her resources and skills in trying to save her son. Jo established the Riaan Research Initiative, the first-ever research and advocacy organization dedicated to finding an effective treatment for Cockayne syndrome. 

Jo also took inspiration from her Sikh faith as she learned more and more about her son’s illness and the plight that rare disease patients face around the world. Since the syndrome is so rare, it was not detected by prenatal genetic screening. Riaan is 21 months old and has significant delays in motor skills. While the doctors haven’t given the boy much time to live, Jo still has hope that her efforts will make a difference.

To contribute to the Riaan Research Initiative, click here.