Mick Smith’s family is hoping to put a name to the progressive neuromuscular disease that is affecting this 12 year old triplet. Whole exome sequencing is the test that might give a name to his disease and possibly help doctors treat him. The knowledge gained from the test might not lead to a treatment or therapy but at least could help doctors manage his care.
This test is not always covered by insurance because it is so new and in fact the Smith family’s insurance is not covering the cost. They chose to do the test anyway and will get the results in a few more weeks and will then hopefully have a name and possibly a treatment for him.