I still remember it like it happened yesterday. It was another trip to the doctors to try and find out what was wrong with our daughter. After numerous trips to hospitals and several test later, we had two bombs dropped on us in one day. First, one doctor tells us that our daughters kidneys were only functioning at eleven percent, and failing fast. As a result of this, she would need to be put on dialysis and soon require a transplant. The second doctor then comes in the room and tells us that our daughter has a genetic disorder, called Joubert Syndrome. We had no idea how to even pronounce the word much less what it was.
Although only three to five percent of individuals are born with a genetic disorder, there are over 6,000 different identified genetic mutations that have been discovered. Different genes affect individuals in different ways. A person may have the gene for a particular genetic disorder and actually have the symptoms of the disease. A person may have the gene for a particular genetic disorder but not show any symptoms either because the onset of the disease will occur later in life such as Huntington disease or because the disease is under control through the use of medication. Some genes make it virtually inevitable that an individual will eventually show the symptoms of the disease whereas other genes merely make an individual more prone to developing a disease. If you are born to parents who both carry an autosomal recessive mutation, you have a 1 in 4 chance of getting the broken genes from both parents and developing the disease. If one parent is a carrier, there is a 50% chance that that broken gene will be passed on to the child. This would make the child a carrier of the gene as well.
In the American Journal of Medical Genetics (Gleeson), Gleeson wrote that there has always been confusion surrounding exactly what a related disorder is in relation to Joubert Syndrome. In order to clarify this, the evolution of...