“A rare sort it was you see
Not to cause sorrow or glee!
Not a part of crowd may be nice
But makes you lonely you see…”
The ever philosophical Anand says to babu Moshai that if you have to get a disease let it be so rare and elegant named one like what he has!
It was a rare tumour which he had but did you know that there are a couple of diseases which are so rare that there are only a couple of known cases!?
read on!
Of course having a rare diagnosis is the first thing we always used to imagine in the clinical year of our medical college!
The year when we start our clinical rounds and as we eager students listen to the symptoms of the patients, we start relating to them and start imagining that we have the same!
Some eager beavers would examine an old patient of our senior professor and silently announce that he or she has this rare disease and not the one diagnosed by our senior!
The first thing our clinical Geeta or the book we all used for examination was this book called A Manual of clinical surgery by S Das. You would not see any young clinical student without this book! While the seniors would never want to be caught with it!
One of the main things I selectively remember from that book is that, “A rare diagnosis is rarely correct!”
Now this is an often repeated quote in our rounds by seniors and everyone!
It is more possible that the ‘rare’ symptom or sign of a disease may actually be the ‘rare’ symptom or sign of a ‘common’ disease rather than the ‘common’ symptom of a ‘rare’ disease!
In our rounds one of my professors always used to say that since the prevalence and extent of Tuberculosis is so varied and wide, there is no part of the human body which cannot be affected by TB!
So whenever we think or used to think that the patient we have got has a rare diagnosis or a rare disease, we were rarely correct!
It was the same during clinical examination also! Many confident geniuses in the batch would even diagnose so rare finding and many times they would turn out to be correct but those were the rare genius minority! The majority average folks like me had accepted the safer common diagnosis path!
Then again when a rare diagnosis is made, there would be a rush to see the case since if you see a rare case you will certainly remember it for life!
One such case I remember was a case of Hydrophobia or Rabies which was not very common and we still remember the lady who fed up with so many students and teachers coming to visit and examine her once announced that whoever comes near she would bite him or her!
Now as medical students, rare diagnosis and findings used to thrill us which is why we used to rush if there was a rare murmur or a rare chest finding or even a rare skin lesion!
At some point in a medical student and later doctor’s life when he or she would be asked if he or she has seen this rare disease then he or she would like to say yes!
But there are a couple of diseases which I am sure no doctor at least in my circle (which is quite big I think!) would have seen! Many of them would not have even heard of these which includes me since before today even I did not know about them! Yeah that last part is not surprising
This first disease is considered to be the rarest disease in the world. Ribose-5-Phosphate Isomerase (RPI), is a crucial enzyme in a metabolic process in the human body. This condition can cause muscle stiffness, seizures, and reduction of white matter in the brain. The first known case of RPI deficiency was diagnosed in 1984 and since then there have been some more added to the list! The list now has only four members though! In the history of human civilisation there are only four cases of RPI Deficiency disease! Now that is rare!
In the search for an explanation for this rarity, it has been found that the patient has a seldom-seen allelic combination.
One allele is a nonfunctional null allele, while the other encodes for a partially active enzyme. Furthermore, the partially functional allele has expression deficits that depend on the cell type in which it is expressed. Therefore, some of the patient’s cells have a considerable amount of RPI activity, whereas others do not.
So with only four members in the list which in the 1990s was actually the rarest disease since it had only one known case was the rarest!
So with four, it is no longer the rarest!
Yes, I am coming to the point! The rarest disease is so rare that there are only two members in the list! It may be a field out there but the members are only two!
Yes, that was a clever pun on the name of this disease called the Field’s disease! This is the most rare disease with only two known cases!
Fields condition, also known as Fields’ disease, is a neuromuscular disease that is considered the rarest medical condition in the world. It was named after Welsh identical twins Catherine and Kirstie Fields, who are only two people known to have been affected by the disease!
The disease appears to be progressive in nature. It was first noticed when the Fields twins were around the age of four. By the time they had reached the age of nine, they were having difficulty walking and needed frames to assist them with walking. Their muscles have been gradually deteriorating over time. The disease affects the twins’ nerves, causing involuntary muscle movements such as trembling in the hands.
The disease has had no apparent effect on the twins’ brains or personalities. Doctors do not know if the disease is fatal and, if so, what the life expectancy of one with this disease is. If the cause of the disease is genetic, there is a chance that the twins could pass it on to their future children.
So make sure that if you are a medical student and you see a case of muscular degeneration, whatever you do, make sure you do not diagnose it as Field’s condition! At least not as your first differential!
Of course this is not a joking matter and it was not meant to be in any way. The whole point of the blog is to make the point that even with the countless books on medicine and research papers and journals and seeing countless patients, what an average medical student or doctor knows is still a ‘drop’ in the large and immense ‘ocean’ of data!
Now these diagnosis are rare and rare also is to find athletes like the flying Sikh Milkha Singh!
Now do the common thing to do which is sleep!
Shubh ratri!
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