“In my hands”
Introduction
“In my hands” is a medical documentary about improving the life expectancy of people with Marfan syndrome. The video file captures different perceptions and feelings of parents, children, and experts about the Marfan condition. Apart from creating awareness about this condition, the video offers a message of hope for people affected by the disorder. The video makes us aware of the minorities in the society living with life-threatening illnesses as well as available methods of increasing the life span of people with the Marfan syndrome. Generally, the theme of the clip is ‘living with Marfan syndrome.’
“In my hands” begins by showing us the reactions of people with the syndrome and their family. The emotions captured in the video are expansive, from hopelessness to a life full of purpose. If the condition is detected early, the risk of death is minimized as doctors keep a close eye on their patients. Again, we see different patients, cutting across all the age groups. This diversity gives the viewer essential insights on the disease to understand the problem and appropriate interventions. This paper will discuss the early diagnosis of Marfan syndrome for providing timely responses as an effective strategy of living longer with the condition.
The viewer can see the despair in parents’ faces as they narrate their journey with learning to live with children with Marfan. Most parents, when given the devastating news about their children’s conditions, first act in denial because they do not want to believe their children may be dependent on them for the rest of their lives. The video indicates that there is hope by speaking to various doctors and people living with the syndrome. Thus, the documentary provides evidence to support the opinions shared by people and medical experts as well. The clip gives the viewer a vast knowledge base about the Marfan syndrome and interventions which have proved to improve the quality of life of individuals with the syndrome.
Introduction to Marfan Syndrome
Marfan syndrome is a severe condition that affects the connective tissue in various body parts, weakening them. The connective tissue runs throughout the body, providing strength and flexibility to bones, heart valves, blood vessels, ligaments as well as muscles. The presenting symptoms change from one person to another in terms of the time of onset, severity, and rate of progression. Marfan syndrome affects many systems within the body leading to abnormalities in the development of the individual. The principal life-threatening conditions indicative of Marfan syndrome are loss of eyesight and massive expansion of the aorta. The overgrown aorta can easily rapture and cause damage to life.
Most people with the syndrome suffer from other heart conditions such as a leak in the chambers of the heart. These leaks reduce the pressure of blood flowing out of the heart, and some organs may not get sufficient supply of food and oxygen. Reduced supply of oxygen-rich blood to organs of the body can cause shortness of breath, fatigue, and irregular heartbeats. People with Marfan syndrome are often tall and thin, with long disproportionate legs and arms. The fingers on both feet and arms are excessively long and may have wobbly posture due to weak joints on arms.
People with the syndrome also have elongated by narrow faces, curved spine, protruding or sunken chest, and crowded teeth. Occasionally, air may accumulate within the chest cavity of individuals causing lungs to collapse; a condition called spontaneous pneumothorax. Furthermore, the syndrome may cause excess enlargement of the dura, which is the membrane covering the brain and spinal cord. This anomaly causes aching of the head, back, legs, or abdomen. The majority of people with Marfan disorder are shortsighted and may develop eye cataracts at some point during their adulthood. These individuals are also at an increased rate of experiencing increased eye pressure, which impairs the ability to see clearly.
Diagnosis of Marfan Syndrome
Early detection of the syndrome is crucial because it allows doctors to apply appropriate interventions to improve the quality of life of individuals with Marfan syndrome. Although the condition can be inherited, most of the cases are caused by the mutation of the FBN1 gene. This gene is responsible for organizing growth hormones and releasing them at different instances to stimulate the controlled growth of the body. The gene is also useful in the formation of microfibrils, which form part of the connective tissue. An analysis of the genes helps provide conclusive evidence of the existence or non-existence of Marfan syndrome in a person.
The typical features of the syndrome begin to show as an individual develops, and it may be hard to tell if a newborn has the syndrome. Monitoring the genetic composition of the cells of the individual can help identify Marfan disorder if the genes present some form of abnormality. Several other criteria have been designed to complement the analysis of the genes to prevent wrong or late diagnosis. Most specialists focus their analysis on the dilation of the aorta with time. The occurrence of both dislocated lenses (ectopia lentis) and significant dilation at the root of the aorta (aortic root aneurysm) is sufficient evidence to diagnose an individual with Marfan syndrome.
Since the syndrome is genetic, individuals from families with a history of Marfan syndrome are at a higher risk of developing the disorder. Regardless, the mutation of gene FBN1 also accounts for many cases of Marfan syndrome across the world in families that did not have a history of the disorder. In that regard, the diagnostic criteria for people with a history and those without varies from one individual to another. In the absence of family history, scientists rely more on genetic research to diagnose the disorder. Potential life-threatening aortic root dilation combined with either a mutation of the FBN1 gene, or systemic score of at least 7 points, or dislocated lenses are indicative of Marfan disorder. The problem may also present as ectopia lentis in combination with a mutation of the FBN1 arrivals.
For people with a family history of the syndrome, effective diagnosis focuses on evidence of family history and other events leading to ectopia lentis, systematic score, and aortic root dilation. Individuals exhibiting such symptoms and have a family history with the syndrome easily inherit the condition. Genetic analysis is not essential to confirm the diagnosis of Marfan syndrome for those with family history. Other tests are conducted on specific body organs like the heart and limbs to determine the severity of the syndrome.
Treatment of Marfan Syndrome
Marfan syndrome is a life-long disorder since there is no cure. Intervention measures are meant to control the symptoms and prevent the occurrence of life-threatening events such as a tear of the aorta. Since the condition affects many body parts, different professionals are involved in providing the required healthcare. These include a cardiologist to examine the heart, pediatrician, eye specialists, including an ophthalmologist and orthopedic surgeon. An overall physician may be involved to oversee the assessment and treatment of other complications resulting from the syndrome.
As stated earlier in the paper, persons with Marfan disorder may develop other heart complications such as leaks at the valves separating the chambers of the heart. As the individual grows, the leaking sections expand, allowing for leaks. As a result, people with Marfan syndrome may find it difficult to maintain active lifestyles because their hearts are weak and cannot sustain their bodies when they are involved in strenuous activities. They grow weary quickly and cannot even walk for a significant amount of time without feeling tired and experiencing shortness of breath.
Treatment procedures involve stopping the expansion of the leaks as well as monitoring the dilation of the aorta root. This condition is very critical, and people with Marfan syndrome undergo continuous monitoring of the heart to facilitate early checking of the growth of the aorta root. Ultrasound technology is used in combination with an echocardiogram. Using this technology, the scientist can determine the status of the heart and assess whether surgery is necessary. An echocardiogram can capture the shape and thickness of the aorta as well as the heart valves.
The major surgeries are done to replace a segment of the expanded aorta in a bid to lower the risk of developing severe complications. The replacement of the swollen part of the artery should be done before it has expanded a lot. When the aorta grows to a specific thickness, usually more than 5cm in diameter, it can tear easily, requiring an emergency operation to avert the situation. A portion o the aorta should be replaced when it exceeds the 4.5cm mark. Another importance of operating the heart early is to prevent tearing it during operation if it has grown past the 5cm mark.
Earlier, it has also been shown that the condition affects the person’s ability to see through the dislocation of the lenses, development of cataracts, and buildup of pressure within the eyeball or glaucoma. These conditions can cause an individual to lose their eyesight if not handled correctly and in good time. Conditions like glaucoma can cause permanent damage to the eye, but when managed properly, an individual can see for a longer time. Glasses or contact lenses are offered to correct impaired eyesight due to dislocated lenses.
People with Marfan syndrome also need psychological support to help them deal with their situation. As seen in the documentary, people with the syndrome get emotional at times, wondering, and worrying about their conditions. Family members also go through a hard sensitive time worrying about those of them with the syndrome. The situation is especially difficult for young people who are trying to blend in society only to realize that they cannot lead healthy lives like other people. Appropriate psychological assistance is, therefore, necessary to cater to the emotional needs of individuals with Marfan syndrome and their families.
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