http://www.cnn.com/2014/03/20/health/ngly1-genetic-disorder/
... where a family was dealing with a problem with their daughter. They weren't sure what was going on with their girl, as she was dealing with strange symptoms for some time. She was refusing to eat, eyes were hollowed, and just wasn't acting herself.
This family, was distraught when their baby girl was acting strange day in and day out and they wouldn't rest until they found an answer. They brought her to a doctor and the testing began. They really had no idea what was wrong with her from the start, until a little research was done. They looked into Grace's genes and realized that Grace's mutations of the NGLY1 gene were the destructive kind. The doctor wasn't sure what to think so he searched other work done with this gene and possible problems. The search was really going no where until the doctor found a case very similar to Grace's. The work done hadn't been exactly finished due to this research group had no other work to compare theirs too. So, naturally when Grace's case arose, the connection between the two lit the way. The biggest connection, at first, between the two cases was that both children had the inability to cry. When the doctors figured out the connection between the two it was a "Eureka" moment. The mutation of this gene was then able to be connected to 12 other cases and the mutation is now being researched further.
At first I thought this seemed like a good thing, but I never realized how important it is for a child to cry. I guess this is why doctors make sure a child cries when they're first born.
ReplyDeleteThe act of crying is much more important than most people realize. Without the ability to cry its difficult to tell what is wrong with children who are unable to speak. This is basically one of their only forms of communication with those who can speak. In this case, the issue seems to be much larger than just crying but at least they have found some common characteristic among individuals that could give them a better idea of how to treat the strange illness.
ReplyDeleteI wonder if the inability to cry can also lead to problems with the eyes, as the tear ducts are involved in both crying and making sure that eyes are moist enough to function properly and comfortably.
ReplyDeleteI would assume that not being able to cry would also affect a persons eyes. I guess that this would lead to chronic dry eyes and as Christopher mentions, a difficulty communicating for those who can not speak. Crying also acts as an emotional release to most of us. Sometimes an event in life occurs and one feels the need to just have a "good try". I wonder if those with this mutation also suffer from emotional problems.
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