In medical school, students learn about the intricate functions of the human body, starting with an abstract notion that falls into place in an ‘aha’ moment, leading to a complete picture tied together with a bow of understanding.
The teaching of the function of the human body is progressive, starting with gross anatomy, which involves looking at the human body with the naked eye. After that we move to histology, where body cells are examined under a microscope, then to the point of vivid imagination to understand body function at the biochemical level.
It is fascinating to understand how miniscule abnormalities in the function of the complex machine that is the human body, can result in big problems for a patient.
One fascinating condition that is still amazing to date is the Marfan syndrome, named after Dr Antonin Bernard Jean Marfan. Born in France, he was appointed assistant professor of paediatrics at only 34.
He described the disease in 1896, at a medical society meeting, following the case of a five-year-old girl with disproportionately long limbs.
Further research characterised the condition as a genetic abnormality in a gene in the 15th human chromosome. 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 varies from patient to patient, hence the diagnosis may be missed in some of them.
In Marfan syndrome, the little abnormality results in a multitude of problems affecting every system in the body, including the skeleton, heart, blood vessels, eyes and lungs.
What etched the condition deep in our minds was the humour of our biochemistry professor, as he described it one hot Friday afternoon, while we furiously scribbled in our notebooks.
Professor’s classes were lively, and he found humour in even the darkest circumstances. He would laugh a deep belly laugh that shook his whole body, and we would laugh with him long before we got the joke.
During this particular class, he described the Marfan syndrome, then dissolved into laughter. It took another minute for him to explain that he knew a man in town who quite obviously had the condition, and yet had no clue.
Prof found it funny that the said man never found it odd that his arms were long enough to reach his knees, and he never saw it as a problem. After that, Prof sent us all scurrying to town to see if we could spot this unnamed man. Prof warned us that Marfan syndrome affected one in 5,000 to 10,000 people, but we were curious and keen on finding the man. It took us a while to figure out that the joke was on us.
A few years later during my internship at a national referral hospital, student examinations meant interacting with real patients.
During a revision session with a group of students in the wards, the professor casually mentioned that the university must have sent us bus fare to Nakuru to see the hospital’s most prized patient.
We were at a loss on what he meant, but I found out the following morning, when I beat my classmates to laying my eyes on a patient with Marfan syndrome.
My jaw dropped and the patient laughed light-heartedly – it was something he experienced every time he came into contact with new doctors. His six-foot frame was reed thin, and he had the longest arms I had ever seen.
He was the perfect examination “specimen”, and he carried the title with grace. He had partial vision loss, a protruding rib cage and very flexible joints. He also had gracefully long fingers, fit for a pianist.
I said a quick prayer for the student who would examine him.
He would have to be keen to pick out the heart murmurs that indicate a heart abnormality, and that would be based on the assumption that the student would know what he was dealing with in the first place.
Years after graduation, I hope the selfless and patient young man, with an enviable sense of humour, is still sharing his body with medical students.
Diagnostic equipment and treatment options have since advanced, and we can confidently say that every Marfan syndrome patient should be diagnosed appropriately, in a timely manner and receive due treatment to allow them to have a normal life expectancy.
With a better quality of life, many patients with Marfan syndrome in the world have taken advantage of their unique condition and exploited their joint flexibility to excel in disciplines such as acrobatics. However, heart and blood vessel complications remain the leading cause of their death.
While we do not choose our DNA, the best we can do is accept the hand we were dealt, be comfortable in our skin and wear it with grace!