THE QUIRKY SIDE OF NATURE

Learning basic sciences in medical school is something of a wonder. One learns the intricate functioning of the human body and suddenly in that ‘ah ha!’ moment, everything falls into place from an abstract notion to a complete picture, tied together with a bow of dawning understanding.

The teaching of the function of the human body is progressive, starting from gross anatomy where we look at the human body with the naked eye, move to histology where we look at the body cells under the microscope and further to where one must have a very vivid imagination to understand the ultramicrostructure of the body function at a biochemical level.

It is therefore ultimately fascinating when we begin to understand how such miniscule abnormalities in the function of this exceedingly complex machine that is the human body can result in such tremendous manifestations in the patient.

One such fascinating condition that still amazes most of us to date is Marfan Syndrome. A complex condition named after Dr. Antonin Bernard Jean Marfan. Born in France, he was appointed assistant professor of paediatrics at only 34 years of age. He described the disease in 1896, in a medical society meeting in the case of a little five year old girl with disproportionately long limbs.

Further research was able to characterize the condition as a genetic abnormality in a gene in the 15^th human chromosome. Such an insignificant abnormality results in a multitude of problems affecting every system in the body, including the skeleton, the heart and blood vessels, the eye and the lungs.

What made the condition remain deeply ingrained in our minds since that hot Friday afternoon as we furiously scribbled notes from our biochemistry professor was his humour. Professor’s classes were extremely lively. He found ways to see humour even in the darkest circumstances. He would laugh a deep belly laugh that shook his whole body and we would find ourselves laughing even before we got the whole joke.

During this particular class, he described the condition and then dissolved in mirth. It took a whole minute for him to muse that he knew a gentleman in town who quite obviously suffered the condition but had absolutely no idea. What was funny to Prof was how the said gentleman had never found it odd that his arms were long enough to reach the level of his knees without thinking he had a problem.

Essentially, Prof. sent us all scurrying to town to see if we could spot and identify this unnamed gentleman. He represented a statistic of one in 5000 to 10,000 and we were curious to observe. It took us a while to figure that the joke was on us.

The intrigues of the condition did not end there. A few years later, during my internship at a national referral hospital. Being a teaching hospital, student examinations meant that they interacted with real patients.

During a revision session with a group of students in the wards, the professor casually mentioned to the students that it was most certain that the university had already sent bus fare to Nakuru to facilitate the travel of the medical wards’ most prized examination patient. The poor students were at a loss as was I.

The next morning however, I was in for a treat. I had beaten my undergraduate classmates to laying my eyes on a Marfan Syndrome patient. My jaw dropped and he laughed light-heartedly as this was something he experienced every time he came into contact with doctors.

His six foot frame was reed thin and he had the longest arms I had ever seen. He was the perfect examination ‘specimen’, a title he carried with grace. His vision was partial, his rib cage protruded outwards, his joints were hyper-flexible and he had the gracefully long fingers of a pianist.

I said a quick prayer for the student who would land on this patient’s bedside for examination purpose. He would have to be very keen to pick out the heart murmurs that herald the presence of a heart abnormality. That, would be premised on the assumption that the student would know what he was dealing with.

I hope the young man is still sharing his body for the advancement of training of doctors. His selflessness, patience and good humour are enviable. With advances in diagnostic equipment and treatment options, we can now confidently say that every Marfan Syndrome patient should be diagnosed appropriately, in a timely manner and receive due treatment in order to allow them to have a life expectancy similar to other people in the population.

Many with Marfan Syndrome all world over have taken advantage of their unique condition to excel in disciplines such as acrobatics as they exploit their joint flexibility. However, heart and blood vessel complications remain the cardinal cause of death for them.

It is humbling to realize that most genetic diseases are precipitated by extremely small genetic abnormalities. These may be inherited from the parents or may be due to damage within the DNA of the sperm or ovum that constitute the new being. The severity of symptoms also varies from patient to patient, hence the diagnosis may be missed in some of them.

We do not get to choose our DNA. All we can do is be comfortable in the skin the cards have dealt us and wear it with grace!