World Rare Disease Day and My Lessons From it All

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As we get ready to mark the Rare Disease Day on February 29, I wanted to write this, in the hope that it would catch some of our attention and concern. And perhaps some of us would know the best way to bring this event to the attention of the public and powers that be.

There are estimated to be over 3.3 crore patients in India suffering from rare diseases. There are about 6,000 to 8,000 rare diseases in India and the unfortunate part is most do not have any cure.

Now, why is this event important for me?

My father recently died of a rare disease called Progressive Supranuclear Palsy or PSP, a neurodegenerative brain disease that has no known cause, treatment or cure. Let me quote here from Cure PSP, the foremost organisation working towards cure and prevention of the disease: it is extremely rare and known to strike about only six people per 100,000 population. It affects the nerve cells that control walking, balance, mobility, vision, speech, and swallowing.

Because it is so rare and the symptoms are somewhat similar to Parkinsons, it is often mistaken as the latter. Even otherwise, it is mostly classified as Parkinsonism or Parkinson Plus. In India especially, there is almost next to nothing awareness about PSP, even within the top medical fraternity. Just a small example: a Google search for “Progressive Supranuclear Palsy + India” throws up just six results, only one of them relevant — Parkinsons Movement and Disorder Society, that also a single page with no extra information thrown in other than what little is available on foreign sites.

And perhaps that is why it needs to be highlighted.

As I said, this disease is a movement disorder that occurs from damage to cells in several parts of the brain. These cells control our nerves, which ultimately control the muscles. It is amazing how many muscles we don’t even think about until we can no longer control them.

The disease systematically robs the affected persons of their independence and basic character. Often, the first to go is the eye movement, followed by gait and balance problems. This continues for years, with the persons losing their ability to perform executive functions one by one. Finally, there comes a time when they can no longer stand or walk and ultimately end up bedridden. Next to go is their ability to speak and use their hands. Soon they have a tough time focusing or looking up and down, and finally even blinking, or opening or closing eyes become a problem. In the last stages, the patients can no longer move or even eat and drink.

Yet, PSP in itself is not directly life-threatening. Patients often die of associated complications — like pneumonia and malnutrition owing to swallowing difficulties. Multiple organ failure is what is written on Dad’s death certificate. What caused it, the doctors don’t know. As one of them explained, it was possibly the brain’s way of switching off.

Imagine a visibly healthy person with no peripheral vision (the problem can never be diagnosed by eye specialists) or with severe balance problems (this again, cannot be diagnosed by normal orthopaedics), being told again and again by doctors that everything is fine with him and he is just not making an effort. Soon, the family joins in. Imagine a person’s horrors when he can’t remember basic things like how to take a bath or button up a shirt, or he suddenly discovers he can’t read and write, or how and what to talk? He is scared, he can’t share this with anyone, may be he thinks he is losing his mind. He needs support, but of course the family thinks he is just being lazy. So, he is more scared, gets defensive, aloof, withdrawn. As it is the world of communication is fast shrinking for them, we in our ignorance help shrink it faster. He didn’t talk much, we didn’t bother why. And neither did the doctors.

It took us for Dad to be bed-ridden to understand he had a genuine problem. Some doctors were still in denial — they treated him for depression, B-12 deficiency, thyroid problems, even TB, coming up with a new theory every other day and pumping him with some fresh drugs.

Imagine the horrors of a person who can fully understand what is happening to him and yet is a prisoner in his own body. Unable to communicate — about his emotions, even severe pains or discomforts. He can’t eat when he is hungry or drink when thirsty, or even blink to say yes or no.

We learnt it the hard way after months of running around in circles with numerous doctors, only to be misdirected, often snubbed at, at times ridiculed.

The changes were so subtle in the initial years that it was difficult to comprehend. And when it finally struck, the plunge was so sudden that it left us no time to grasp the situation. We had just about three months and he was gone. Yet, I have heard that in the West — even though there is no cure — PSP patients can live on for years with early diagnosis and proper care. Perhaps because the entire system out there is more equipped. Perhaps if we were more prepared, if our medical system was more empathetic, Dad would have lived a few more years/months.

It’s not about my father per se. But the rarity of disease and how underprepared we are to deal with it that made me write this. Can you beat it some of our very senior doctors had not even heard of PSP? That post-diagnosis, every time I mentioned PSP, I had to expand the full form to some of them? And even then when they looked on questioningly, I had to explain that it was “something like Parkinsons”? Can you beat it that Vimhans, considered the second best neurological institute in India after Nimhans in Bangalore, actually missed the diagnosis? That a whole battery of doctors during Dad’s two-month stay there didn’t even come anywhere close to it?

I have perhaps given a small picture of a disease which is much bigger. It is a horror for the patients as well as the families. It doesn’t take away the person all at once, but kills him bit by bit, and you mourn the loss each time. Like we always said Dad is better today, because tomorrow will invariably be worse — he will lose the ability to do yet another thing.

My father was a very active and go-getter person. He rose from the ranks to hold a very senior position in a top industry chamber. He had traveled all over the world and was extremely well-read. Even after he retired, he would keep busy updating himself on news and current affairs. As journalist siblings, much of our interest in current affairs, sports and movies we picked up from him. As children, we almost hated him when he bought us tonnes of books during festivals while the neighbours had new dresses and crackers. “Books are your best friend,” was the standard preaching all his life. Till a few years back we would almost be in fisticuffs over the government’s open door policy or the fate of the US economy or where the Indian cricket team was headed. “Let’s agree to disagree,” he would say when the argument got too hot. From there to the days when he wouldn’t open his newspaper bundle (he still made sure he got his 3/4 newspapers) to the total blank look on his face in the last days. It was heart-wrenching seeing the person we once knew as what he had become.

We kept the news channels on TV on. May be he would still want his daily quota of news. But could he comprehend? We don’t know. Because he could feel, he would want to talk. But what did he say? We don’t know. Often, he himself didn’t remember what he wanted to say. When we spoke to him, his eyes were droopy and blank. Did he understand what we just said? We don’t know. Sometimes he nodded, often he didn’t. His eyes were wet always, tears rolling down his cheeks due to no blinking. Or was he crying? We don’t know. He only clutched at our hand every time any of us sat next to him. His eyes were blank, his face a mask. He couldn’t smile, couldn’t read, couldn’t blink and was dependent on us for everything.  But of course, blinking and smiling were things we couldn’t do for him.

In a way, it was better he passed away before suffering much. But in his death, he made me realise the gravity of the situation. It’s one matter to have a disease on which much research has gone into and yet no one-stop cure has been found (I am not putting one life-threatening disease over the other, but…) and it’s another to suffer a disease in this age and time on which nothing significant has been done yet. Even if there are no medications yet, we need more awareness — within the society as well the medical fraternity — to begin with.

So that at least the diagnosis happens. So that not another family shuts out one of its loved ones.