Lucy and Jim have been married for 5 years and have decided

Last updated: 10/19/2023

Lucy and Jim have been married for 5 years and have decided they would like to try to have a child However a rare genetic disorder runs in both or their families so they decide to go to a genetic counselor to determine the chances that their future child will be affected The disease achondrogenesis 1a affects the ability of proteins necessary for bone and cartilage development to be modified and packaged properly after leaving the endoplasmic reticulum The results are devastating Individuals with this disorder are often stillborn or die soon after birth from respiratory failure Fortunately after doing a genetic screening the genetic counselor determined that while Jim is a carrier for this autosomal recessive disorder Lucy is not Therefore if they do have a child it is unlikely that their child will be affected