What is rMED?
The Cause
The disorder is caused by a mutation in one of the genes essential for the development and normal functioning of the intercellular constituent of cartilage. These mutations inhibit the development of articular cartilage and underlying bone, which in turn causes deterioration of the cartilage and a thickening of bone in its proximity, resulting in early onset osteoarthritis. There are a group of inherited diseases caused by mutations in the SLC26A2 (DTDST) gene, also referred to as sulfate transporter-related osteochondrodysplasias. These diseases include: achondrogenesis type 1B, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia.
Elliot's Road
Genetic testing in 2007 showed mutation in Elliot's SLC26A2 (DTDST) gene. Elliot's diagnosis in 2008 was rMED, however in 2013 we learned that Elliot also has certain characteristics of diastrophic dysplasia.