Marfan Syndrome Have you ever wondered about the diseases that you can get from your parents? One of these major diseases that can change someone’s life is called the Marfan Syndrome. Marfan Syndrome is a disorder of connective tissue that is inherited from the parents. The bones and circulatory system are usually the parts of the body that are longer and the ones that are changed because of the disease. There are many things that can cause a disease. Marfan syndrome is caused by a mutation in the fibrillin-1 gene. The gene produces a protein that is essential for formatting the elastic fibers found in connective tissue.
About 75 percent of people with Marfan syndrome inherit the mutation from one affected parent. A parent who has Marfan syndrome has a 50 percent chance of passing the disease on to his or her child. Two unaffected parents have a 1 in 10,000 chance of having a child with Marfan syndrome. About 25 percent of Marfan syndrome cases result from a new mutation in the gene. Marfan syndrome affects different people in different ways. Some people have only mild symptoms such as their body and bones being longer. On the other hand, other people are more severely affected because it affects their vital organ(s) or organ system(s).
The body systems most often affected by Marfan syndrome are the Skeleton, Eyes, Heart and blood vessels, Nervous system, Skin, and the Lungs. However, in most cases, the more someone ages, the more the Marfan syndrome symptoms will progress. So because of this the person will not relieve that they have the disease. The life of someone with Marfan Syndrome is very different than someone with no disease. One of the most important things is to avoid putting extra stress on the heart. That means avoiding any sport where there’s a lot of running, physical contact, muscle straining, or the chance of getting hit in the chest.
Some examples would be things like basketball, football, baseball, gymnastics, weightlifting, and track. The people with Marfan syndrome can only play safe activates (activates that are given by the doctor). The Safe activities are usually competitive bike riding, swimming, or dancing. Another thing people who have Marfan syndrome should never do is smoke or use tobacco products. Other than the examples of things that they cannot do, people with Marfan syndrome are just like everyone else, only maybe a little taller.
Some diseases can be passed from one person to another but Marfan Syndrome isn’t one of those diseases. In most cases, the gene for Marfan syndrome runs in families, getting passed down to children from parents who have the disease. In these cases, a kid may have grandparents, aunts, uncles, or cousins who also have the disease. Every kid born to a parent who has Marfan syndrome has a 50% chance of having it, too. Sometimes, though, neither parent has the disease. In these cases, a normal gene accidentally changed when a baby was first developing.
This baby will be the first person in his or her family to have the disease, and as a grown-up will have a 50% chance of passing the changed gene on to each of his or her children. If someone had a disease it would make their lives different than someone with no disease. Teens with Marfan syndrome who are nearsighted will probably have to wear glasses or contact lenses. If the lens of the eye becomes severely damaged, surgery may be necessary to fix eye problems. Some Teens develop scoliosis, abnormal curve in the spine, and then they have to wear a special back brace.
Sometimes severe cases of scoliosis and chest wall problems may require surgery. If the person has heart problems associated with Marfan syndrome would need to have heart surgery or always take antibiotics to prevent an infection in the walls of the heart, which would be caused by the bacteria entering the bloodstream. You would need to take them before going outside, regularly waking up in the morning or even going to sleep at night. If you were to have Marfan Syndrome, it would affect your organ systems and make you look/be different than other people that don’t have a disease.
Examples of organ systems that are affected by Marfan Syndrome would be the Skeletal system, the muscular system, your heart and you blood vessels. It would affect your bone by making you very tall, slender, and loose jointed. You’re Arms, legs, fingers, and toes may be disproportionately long in relation to the rest of the body because Marfan syndrome affects the long bones of the skeleton. A person with Marfan syndrome usually has a long, narrow face, and the roof of the mouth may be arched, causing the teeth to be crowded.
It weakens and stretches your muscles and begins to place weight on the vertebrae in the lower spine. It would also start to wear away the bone surrounding the spinal cord. It would also make your heart weaker and more vulnerable to damage and kill the person with the disease. It would then affect your blood vessels by making the large artery that carries blood from the heart to the rest of the body, weak and it will stretch. Then because of this it will increase the risk that the artery will erupt and if it does it will cause serious heart problems or sudden death.
Our Lives are very short and when you have a disease it makes your life even shorter. People with Marfan Syndrome have to face this catastrophe everyday of their lives. Wondering when they will die because of their disease. If I had a genetic disease, I would be very sad and not happy because I would wonder when I would die. The people who don’t have this disease should ask their selves, “What would I do if I had a genetic disease”? You should always ask you’re self because you never know what can happen to someone in one lifetime. “