The Marfan Syndrome was named after a French doctor, Antoine Marfan, who discovered the disease in 1896. This disorder affects the body’s connective tissue, which can be said to be a kind of glue that holds every organ, bone, joint, muscle and blood vessel in place. This means that if the glue becomes weaker, it causes damages on various levels to a lot of systems within the body, most noticeably the eyes, heart and bones.
It has been observed that people suffering from this disease are tall and thin with gangly legs, toes and fingers. They are also often nearsighted or may develop curves in their spines (a condition known as scoliosis). However, its most serious complication is with the heart – over the passage of time, the weakened tissues can cause arteries connected to the heart to stretch and dilate, resulting in tears that can cause blood to leak. This condition, termed as Dissection, is a serious condition because it can often lead to death if not treated within time.
The Marfan Syndrome is a rare genetic disease, which means that the gene which causes it gets passed down from parents to children. The name of that gene is the Marfan FBN1, and it is enough to get it from one parent for the child to develop Marfan syndrome. Sometimes, grandparents, uncles or even cousins can also pass it on to future generations. In some cases, neither of the parents possesses the gene. However, during the early stages of the development of the child, a normal gene is accidentally changed, thus leading to Marfan. This in turn will have an effect on the baby’s future family, with its child having a 50% chance of acquiring the gene from their parent.
Till date, the Mafran Syndrome has no cure, but fortunately, the doctors can treat most of its symptoms. Science has improved by leaps and bounds, making it possible for an early diagnosis, which in turn means better medical care and thus a happier and healthier future.
Children who have this syndrome need to be monitored closely by doctors because their bodies grow and change rapidly. They require yearly echocardiograms, along with regular bone and eye examinations to make sure their condition isn’t deteriorating.
Medicines called ACE inhibitors and Beta Blockers can also be prescribed which help in lowering the heightened heart rate of children, causing lesser wear and tear of blood vessels. Nearsightedness can be taken care of by glasses, but children with scoliosis are made to wear a special back brace. In severe cases, children might require heart, back or even eye surgery.
The syndrome affects different people differently, so what works for one child may not necessarily work for the other. Some children may require extra help in class because of problem with their eyes, and may require sitting out on physical activities. People in the same family can exhibit varying symptoms – while some may have mild versions of it, others can have severe ones. It is still not clear as to why this happens.