In a populace of a million or more, a few babies are born with a rare condition due to hereditary or birth complications. Such condition is Marfan Syndrome also abbreviated as MFS; a genetic disorder of the connective tissue named after the French medical doctor who discovered it in 1898.
Just like Autism, Marfan syndrome is one of the rarest conditions in the world and the most ignored or likely unknown condition globally but, especially in Africa because of its complicated features and difficulty to diagnose and treat.
It weakens the human body by affecting the heart, blood vessels, skeleton and the eyes.
This condition affects all people without racial or gender discrimination and occurs due to changes that take place in the FBN1 gene located on chromosome 15 of a human body.
Unfortunately, there is no detailed cause for Marfan Syndrome but, research shows that the disorder is hereditary because approximately 3 in 4 people suffering from this Disorder have inherited the changed FBN1 gene from one of their parents who also has MFS while approximately 1 in 4 people have chances of having FBN1 gene changed in the egg or sperm that made them.
Medical conditions associated to MFS
There is a prodigious number of conditions associated to Marfan Syndrome but, their severity in people vary from mild to severe conditions with the most common health conditions being cardiovascular, skeletal and visual conditions.
- Cardiovascular conditions. ( Heart and blood vessels). These are the most serious conditions. In such cases, the aorta widens and becomes more fragile and further widening of the aorta can cause tearing, leakage and an eventful rupture of this vessel. Other fatal problems of heart include the malfunction of the Mitra Valve located in a human being’s heart which if left untreated can culminate into heart failure. These conditions need to be identified at an early stage in view of ensuring early treatment or risk fatal effects like death for the victim.
- Skeleton; people with Marfan syndrome often have physical signs to show for it. They are usually tall and slender with long arms, legs, fingers and toes and doctors use this physical criteria to diagnose the disorder before running internal tests on an individual. People with Marfan Syndrome also suffer from loose painful joints and have a tendency to develop a curved spine, an abnormal chest bone, hernias and skin stretch marks. All these are used to diagnose MFS.
- Eyes; People with Marfan syndrome usually suffer from visual impairment like short sightedness (myopia) and lense dislocation (ectopia lentis)
How can Marfan Syndrome be treated?
We know that healthy people are happy people but, there is currently no permanent cure for Marfan Syndrome except for careful medical management of its underlying conditions mentioned above. Diagnosis and management of these conditions can help doctors detect problems at an early stage and treat them. Meanwhile, doctors also recommend that people with MFS should indulge in appropriate lifestyles such as having a balance diet, abstain on smoking, engage in exercises that are good for the heart, blood vessels and joints and avoid contact sports such as karate in that this can improve the outcome for patients.
Marfan syndrome patients are mandated to undergo regular echo cardiograms to assess the heart and the width of the aorta and after Diagnosis, Doctors prescribe Beta-blockers to patients with widened aortas in view of helping lower the blood pressure, slow the heartbeat and reduce stress on the aorta of the patient. Meanwhile, further widening of the aorta calls for an emergency surgery in view repairing it.
Cardiologists also recommend that MFS patients with problems in the Mitra valve are given antibiotics prophylaxis which may be required to reduce the risk of infection following surgery as well as careful monitoring of the skeleton which is particularly important during childhood and adolescence in view of detecting problems in the spine or chest bone to treat the conditions early.
However, one should understand that having Marfan syndrome is not the end of the world because being aware of its existence gives us a chance to get its underlying conditions treated though the syndrome itself is incurable.
I would like to encourage those who have discovered that they have it; those who already know they have it and those who are yet to discover it’s existence in their bodies through this post; know that you are not alone and that there is hope for you, for us as more and more research continues to reveal vast information on the disorder. Hopefully one day, doctors and scientists will be able to find a way of to stop the FBN1 gene from assuming changes that cause it to culminate into Marfan Syndrome.
In the meantime, I hope this post gives you a little bit of hope for a better future.
For more information on Marfan Syndrome visit the following websites:
The Marfan Association, UK; http://www.marfan.org.uk
The National Marfan Syndrome Foundation, USA; http://www.marfan.org