Sophie’s Neighborhood
is a nonprofit dedicated to fundraising for research into the development of an effective treatment or cure for an ultra rare genetic disorder:
Multicentric Carpotarsal Osteolysis (MCTO)
What do you do when your child is diagnosed with a rare, destructive disorder? What if you were told she was one of 30 others in the world identified with the disease and there was no treatment?
Sophie’s Neighborhood is a nonprofit organization founded in response to Sophie Feder Rosenberg’s diagnosis of Multicentric Carpotarsal Osteolysis (MCTO) Syndrome. Sophie was misdiagnosed with Juvenile Idiopathic Arthritis for a year until the correct diagnosis was discovered through Whole Exome Sequencing, one of the most extensive genetic tests available.
In a matter of a moment, our understanding of Sophie’s condition went from being within a large subset of children with a very treatable disorder - juvenile arthritis - to suddenly being one in 30 with a crippling, life-altering disease that has no treatment or cure.
What is MCTO?
Multicentric Carpotarsal Osteolysis is a rare skeletal dysplasia defined by destructive bone degeneration (osteolysis), particularly affecting the bones forming the wrists (carpals) and the bones in the feet (tarsals.) Most individuals with MCTO also develop chronic kidney failure.
MCTO is caused by a mutation of the MAFB gene, which has a problem with the pathway that regulates osteoclast differentiation and activation. In a normal person the body understands the process of breaking down and remodeling bone cells continuously over the course of ones life. In Sophie’s case, the variant on the MAFB gene only knows destruction.
