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Could you imagine having to take care of your child or sister for her entire life as if she was an infant? That is how it would be if your child or sister was diagnosed with Rett Syndrome. It is an extremely rare disorder that significantly affects both the patient and her surrounding family. The disorder was first discovered in 1954 and has taken countless lives since. Although there has been significant progress in regards to treatment, there is still no cure. There are four distinct stages of Rett Syndrome, none of which are any better or worse than the other.

We continue to learn more and more about this disorder every day. “Rett Syndrome is a unique developmental disorder, affecting girls almost exclusively. ” (Rettsyndrome. org) It was first observed in 1954, when Dr. Andreas Rett, who was a pediatrician in Vienna, Austria, observed two girls that were sitting in his waiting room. He watched as the two girls made the same repetitive hand-washing motions. He compared the children’s clinical and developmental histories and realized they were extremely similar. After looking into this a little more, Dr. Rett realized that he had six other girls with similar behavior in his practice.

He then made a film of these girls and traveled around Europe seeking others with the same symptoms. Meanwhile, in 1960, young female patients in Sweden with similar symptoms caught the eye of their own physician, Dr. Bengt Hagberg. Dr. Hagberg recorded information on his patients, but did not have the leisure time to give it any extra thought. Then, in 1966, Dr. Rett published his findings in several German medical journals. However, at this time, the rest of the world did not have access to these journals. Rett Syndrome awareness began to spread in 1983, when it appeared in the mainstream, English-language journal, Annals of Neurology.

The report, written by Dr. Hagsburg and his colleagues, was instrumental in sharing the details of this disease with the world. In this article, the authors deemed the disorder “Rett Syndrome” after Dr. Andreas Rett, the pioneering researcher. This article not only created the opportunity for more minds to contribute to research, but it also increased the funding going towards research for this disease. Continued research led to new discoveries. “A major breakthrough occurred in 1999, when a research fellow at Baylor named Ruthie Amir discovered MECP2, the gene that, when mutated, causes Rett syndrome.

The discovery of the gene, located at the Xq28 site on the X chromosome was a triumph for the Baylor team. ” (rettsyndrome. org) It was led by Huda Y. Zoghbi, MD, a professor at the Howard Hughes Medical Institute. This discovery proved that Rett Syndrome is an X-linked disorder. Also, only one of the two X chromosomes needs to be mutated to cause this disease, so it is also a dominant disorder. These two factors explain why the disorder is much more prevalent in girls. For all intents and purposes, we can say that basically all cases of Rett Syndrome are caused by a mutation in the methyl CpG binding protein 2, or MECP2 gene.

This gene, which as I previously stated, was discovered in 1999, is believed to control the functions of many other genes. “The MECP2 gene contains instructions for the synthesis of a protein called methyl cytosine binding protein 2 (MeCP2). ” (www . ninds . nih . gov ) This is needed for brain development. It also acts as one of the many biochemical switches that can either increase how much a gene is expressed or tell other genes when to stop producing their own proteins. In patients with Rett Syndrome, a malfunctioning MECP2 gene results in insufficient amounts of protein and can cause other genes to be abnormally expressed.

The MECP2 gene is located on the X chromosome, which is one of the two sex chromosomes. Girls have two X chromosomes, but only one of them is active in a cell. This means that theoretically, only half of the cells in the nervous system use the malfunctioning gene. Therefore, the rest of the cells use the healthy gene. The severity of the case of Rett Syndrome depends on the percentage of cells that use the functioning copy of the MECP2 gene. On the other hand, the story is much different for boys. Because boys only have one X chromosome (and one Y chromosome), they do not have a functioning MECP2 gene.

Every cell in their nervous system uses the defective gene. Boys generally do not show the symptoms of Rett Syndrome. Instead, they experience severe problems shortly after birth and tend to die very shortly after. The malfunctioning of genes within those who have Rett Syndrome can cause them to develop various different habits. Science News magazine reports “Mutations in those with Rett Syndrome may make genes play musical chairs, explaining the disorder’s variety of symptoms. ”

(Science News, 2010) Characteristics of this disease include loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. The course that Rett Syndrome takes, such as the age that it begins and the severity of symptoms, can differ between each individual, however. Before symptoms begin, the child appears to be developing normally, although there may be a few subtle abnormalities, such as loss of muscle tone, difficulty feeding, and jerkiness in limb movements. However, over time, mental and physical symptoms appear. There are multiple symptoms of Rett Syndrome. The first noticeable symptom is the slowing of growth.

Below average head size is usually the first indication of a child with Rett Syndrome. It becomes apparent after the first six months in most cases. As the child gets older, delayed growth in other parts of the body becomes evident. The next symptom is the loss of normal movement and coordination. The most significant loss of these “motor skills” occurs between the ages of twelve to eighteen months. The first signs often include a decrease of hand control and a decreasing ability to crawl or walk normally. At first, this loss of abilities occurs rapidly. It later continues, but at a much slower rate.

Also, between the ages of twelve to eighteen months, children with Rett syndrome typically begin to lose the ability to speak. They may become uninterested in other people, toys and their surroundings. Some children have rapid changes, such as a sudden loss of speech. Over time, most children with Rett syndrome gradually regain eye contact and develop nonverbal communication skills. As the disease progresses, children with Rett syndrome typically develop their own particular hand patterns, which may include hand wringing, squeezing, clapping, tapping or rubbing.

Children with Rett Syndrome also tend to have unusual eye movements. This disorder may cause the development of breathing problems as well. These include breath-holding (apnea), abnormally rapid breathing (hyperventilation), and forceful exhalation of air or saliva. These problems tend to occur while the person is awake, but not while he or she is asleep. As children with Rett Syndrome get older, they tend to become increasingly agitated and irritable. Periods of crying or screaming may begin suddenly and last for hours. Half of children with this disorder, possibly even more, develop seizures too. Severity of seizures varies in each case.

They can range from periodic muscle spasms to full-blown epilepsy. Other symptoms include scoliosis, irregular heartbeat (arrhythmia) and constipation. Rett Syndrome has been broken into four different stages. The first stage occurs between six months and one and a half years. The signs and symptoms during this stage are subtle and easily overlooked. Stage two usually appears around one to two years of age. It is during this stage that the person suffering from the disorder begins his or her rapid regression of acquired abilities. A change in personality may also occur.

Characteristic hand movements such as wringing, washing, clapping, or tapping, as well as repeatedly moving the hands to the mouth often begin during this stage. The movements continue while the child is awake but not when he or she is asleep. Breathing irregularities such as episodes of apnea and hyperventilation may occur, although breathing usually improves during sleep. Some girls also display autistic-like symptoms, such as becoming much less sociable and lacking communication with others. Walking may be unsteady and initiating motor movements can be difficult.

The third stage of Rett Syndrome is a plateau that usually begins between the ages of two and ten years, and can last for years. Although problems with movement continue, behavior may improve. Children in this stage often cry less and become less irritable. Increased eye contact and the use of the eyes and hands to communicate generally improve during this stage as well. Many people with Rett Syndrome actually remain in stage three for the rest of their lives. During the fourth and final stage of Rett Syndrome, you will see reduced mobility, muscle weakness and scoliosis. Communication and hand skills generally do not continue to decline any further during this stage. In fact, repetitive hand movements may decrease.

There is currently no cure for Rett Syndrome. Treatment for this disorder consists of managing the symptoms. Medication may be needed for breathing irregularities and difficulties with movement. Anticonvulsant drugs may also be used to control seizures. Patients should also be monitored regularly for scoliosis and possible heart abnormalities. Occupational therapy can help children develop skills needed to perform daily activities on their own, such as getting dressed and feeding themselves. Physical therapy and hydrotherapy may be used in order to prolong mobility.

In some cases, children may require special equipment to aid them, such as braces to arrest scoliosis, splints to modify hand movements, and nutritional programs to help them maintain adequate weight. Special academic, social, vocational, and support services may be needed to assist the child as well. Despite the difficulties with symptoms, many individuals with Rett syndrome continue to live well into middle age and beyond. Because the disorder is rare, very little is known about long-term prognosis and life expectancy. Rett Syndrome affects about one in every ten to fifteen thousand female births in the world. It is not specific to any racial or ethnic groups.

Although Rett Syndrome is a genetic disorder, less than one percent is inherited. Most cases are spontaneous and unpredictable. “However, in some families of individuals affected by Rett Syndrome, there are other female family members who have a mutation of their MECP2 gene but do not show clinical symptoms. ” (www. ninds. nih. gov) Women that fit under this category are known as “asymptomatic female carriers. ” Throughout my research, I learned a lot about the way that Rett Syndrome changes the life of the child being affected. However, I feel that people need to realize how it affects the family around the child.

Parents and siblings of the child have to make many sacrifices in order to accommodate him or her. Those who suffer from Rett Syndrome, in most cases, cannot perform daily tasks such as getting dressed, feeding oneself, and walking. Family members need to assist in all of these tasks. A child suffering from this disorder cannot be left alone. Therefore, someone from the family must always be there to watch him or her. Children with Rett Syndrome also grow irritable throughout the years. This can result in random fits in which the child makes loud grunting noises over a long period of time. This behavior can become taxing on a family over time.

I have a lot of respect for those who must deal with these circumstances, while still showing love and care for that child. I believe that the most difficult aspect of this disorder is the way in which it develops. In other similar disorders, such as autism, it is known very early that there are genetic problems with the baby. However, in the case of Rett Syndrome, the child appears to develop normally. Parents are expecting their child to live a normal life until all of a sudden, the child’s development regresses. I see this as one of the most painful experiences a parent could ever encounter.

A few of the Holy Family University Mission Attitudes can be incorporated into my research paper. The first mission attitude deals with respect of a living Christian faith and affirmation of the dignity of the human person. I find that this attitude fits perfectly into my paper. This is because people may not treat those suffering with disorders that are similar to Rett Syndrome as people. They may degrade them as if they aren’t important to this world. However, we must remember that everyone serves a purpose, and even though this group of people may not be able to do the things everyone else can, they are still dignified humans and should be treated so. I also find this to fit into the mission attitude of citizenship.

As I mentioned, those suffering from Rett Syndrome and other similar disorders are still members of society. They are citizens of this country and this world. They do not deserve to be treated differently than anyone else. A third and final mission attitude that applies to my paper is awareness of the impact of science and technology and social systems on the lives of individuals. The research going into trying to find a cure for Rett Syndrome is resulting in new technology. This technology is leading to a longer life span for those affected.

The discovery of new medicines also helps make life more bearable for them and their families. Rett Syndrome is an earth shattering disorder that can change the lives of an entire family forever. Its many symptoms can cause a lot of pain, both physically and mentally. Treatment of this disease is continuing to improve and make the lives of these people genuinely better. We can only hope that the continued research will result in a final cure for this terrible disorder. Works Cited “Genes & cells. ” Science News 18 Dec. 2010: 4. Student Edition. Hagberg, Bengt. Rett syndrome – clinical & biological aspects.

London: MacKeith, 1993. Print. “Rett Syndrome – Symptoms, Tests, Treatment and Care. ” Boston Children’s Hospital. N. p. , n. d. Web. 2 May 2013. <http://www. childrenshospital. org/az/Site3075/mainpageS3075P0. html>. “Rett Syndrome Fact Sheet: National Institute of Neurological Disorders and Stroke (NINDS). ” National Institute of Neurological Disorders and Stroke (NINDS). N. p. , n. d. Web. 2 May 2013. <http://www. ninds. nih. gov/disorders/rett/detail_rett. htm>. “Rett Syndrome Symptoms, Causes, and Treatments. ” WebMD – Better information. Better health.. N. p. , n. d. Web. 2 May 2013.

<http://www. webmd. com/brain/autism/rett-syndrome>. “Rett Syndrome | Rett Syndrome Research Trust. ” Rett Syndrome Research Trust. N. p. , n. d. Web. 2 May 2013. <http://www. rsrt. org/rett-and-mecp2-disorders/rett-syndrome/>. “Rett syndrome: Symptoms – MayoClinic. com. ” Mayo Clinic. N. p. , n. d. Web. 2 May 2013. <http://www. mayoclinic. com/health/rett-syndrome/DS00716/DSECTION=symptoms>. “Understanding Rett Syndrome – International Rett Syndrome Foundation. ” Home – International Rett Syndrome Foundation. N. p. , n. d. Web. 2 May 2013. <http://www. rettsyndrome. org/understanding-rett-syndrome>.

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