Mutations and their Affects on Life

“I can’t give him any medicine to make him better!” This is what the doctor told a mother after her newborn child was unable to latch on to her breast. It took the doctors a number of weeks to diagnose her child with Cri Du Chat Syndrome, a syndrome that rarely allows infants to live to adulthood. Cri Du Chat syndrome is caused by the loss of part of the short arm of chromosome 5. Cri Du Chat is French for “cry of the cat,” which is why this syndrome is also known as the Cat Cry Syndrome. It is given this name because of the infant’s cry, which is high-pitched and sounds like a cat. This cry is caused by the abnormal larynx development and becomes less noticeable as the child gets older. To the mother’s surprise, her son lived well past what the doctor’s told her. He was able to attend special schools, meet lots of loving people and participate in a lot of activities that other children were able to participate in. I think that it is wonderful that this mother decided not to give up on her child. There are a lot of people that believe that they can not care for a child that needs special attention, but this mother was able to look past that and give him everything he wanted; everything that any other child would want. I know that caring for children with special needs is a very difficult job and not all people are capable of doing it. Cri Du Chat patients definitely require a lot of care and attention.

Cri Du Chat is a very rare disorder that is caused by the deletion of information on chromosome 5. This syndrome “occurs in an estimated 1 in 20,000 to 50,000 newborns. This condition is found in people of all ethnic backgrounds and is slightly more common in females” (1). Many of the signs and symptoms of this syndrome are because of the deletion of the genes on the chromosome. Other symptoms that may occur are downward slanted eyes, low-set or abnormally shaped ears, mental retardation, partial webbing or fusing of fingers or toes, single line in the palm of the hand, skin tags in front of the ear, a small head, low birth weight, small jaw, slow or incomplete development of motor skills and weak muscle tone. Some children are also born with heart defects. There are a lot of symptoms that may occur if a child is born with this syndrome, but there still has not been a treatment discovered. All that can be offered is counseling for the parents. It is recommended that they get genetic counseling (2). Children with the syndrome can also go through therapy to improve their language skills, motor skill and help them to develop as normally as possible (3).

Not only is there not a lot that you can do to treat Cri du Chat syndrome, but there also is not a lot that you can do to prevent it. The deletion that occurs is caused by a break in the DNA molecule that makes up a chromosome and in most cases the chromosome break occurs while the sperm and egg cell is developing. The parent does not have the break so they do not have the syndrome. It is also unlikely for the break to happen again if the parent has another child. The syndrome can not necessarily be inherited because many people that have the syndrome do not live to adulthood and therefore do not have children.

I think that it is really sad that there are children that have to go through this pain and do not get to experience all the funs of the world. I am not saying that people with this syndrome have horrible lives but they are definitely not easy. A lot of people read about children that suffer from defects at birth, like mental retardation, and say that they would never give up their child; they will love them no matter what. Then there are people that said that they could never raise a child that suffered from a horrible disorder. I always wonder what I would do if I gave birth to a child that was born with a defect. I would like to think that I would love them no matter what, but what if I can not. People with Cri du Chat syndrome are not capable of taking care of them selves or function alone in society. This is why I have to ask myself whether or not I want to make raising a child my full-time job. The mother I referred to earlier had a wonderful time taking care of her child but as she got older, she was unable to do it by herself. Her husband left her when her son was four and she had to raise him all alone. She was able to find extra care from agencies, but the job was still too much for her to handle. She ended up sending him to a home where he could get around the clock service. One night when her son was eight, he found the keys to the shed and went and got the chainsaw. She caught him just as he was plugging it in. I would be very scared that I would not be able to give my child all the care they need.

I think that it is very strange that there is a syndrome that can not be controlled; that you can not prevent from happening. I know that you can find out whether or not a child will have the syndrome while they are still in the womb but you can not prevent it. I did not find any information on advancements for helping people with Cri du Chat syndrome but I did come across some support groups online. I am glad that people are able to find other people that are going through the same thing that they are. It is good that they can find support. I will say that this syndrome is not widely known because when I first heard about this syndrome, I was watching a television show and a doctor had just found out that she was going to give birth to a child with Cri du Chat syndrome. I think that people should be getting educated on the different syndromes that children could develop. There also should not only be counseling for parents with children that have the syndrome but counseling for parents who are still deciding. Becoming a parent of a child with this syndrome can be a very difficult decision and they can use just as much help.

Works Cited

1. http://ghr.nlm.nih.gov/condition=criduchatsyndrome Genetics Home Reference
2. http://www.medterms.com/script/main/art.asp?articlekey=12062 MedicineNet.com
3. http://learn.genetics.utah.edu/units/disorders/whataregd/cdc/ Learn Genetics: Genetic Science Learning Center at the University of Utah