Friday, June 18, 2021

Rare dominant genetic cancer can't be cured or prevented because it's more than a disease, a phenomenon, the result of a basic evolutionary compromise

Listen to vHL.mp3 by Payel Bhattacharya on #SoundCloud https://soundcloud.app.goo.gl/TBNSr 




Once upon a time the unusual birth of the eye-catching child of fond parents after a miscarriage and embryo getting problems while in the womb, were lost in the thought that behind the outer shell there might lurk some sickness never known to humanity and the ill-fated, ill-starred child would have to endure the worst in all walks of life and face countless challenges my parents never thought of that.


I became their apple of the eye. It is my Mum who is the sun and like earth, I have always felt that strange adhesive power, that power of attraction holding us together since I was born. She was my only playmate.


I was a precocious little girl. I started walking and speaking fluently at the age of nine months. The grim humor was a disease that was lurking inside with considerable firmness to follow me through each doom and see my reaction, that I turn a victim or a warrior.


When my brother was born I was twirling in merriment in front of the mirror and fell. My left foot swelled up like freshly baked bread and a bluish knot appeared.


But my heart was like a sponge, sucking up feelings and emotions, even pain. I was born with the soul of a mermaid who could only suffer pain. Since mermaids have no tears I suffered more acutely.


My left foot hurt like I was treading upon points of needles or sharp knives. At that age, I didn't understand or know about my pain. When asked " How do you feel about it? Any pain?" by my parents. My behavioral flexibility took charge suppressing the pain and attained optimal adaptation as with a beaming smile

 "Good, perfect!" 

was my reaction. You may wish to know the reason behind it. I am not going to say that's the way I am because my pain never went away and my words were never true.


I suffered badly due to the ignorance of the teachers at school. I still tremble to think about it.


It started when I was just 3 years of age. My father took me to several eminent physicians, allopathic, homeopathic, and ayurvedic but the situation became worse and ultimately I got at the age of 12 my first surgery. 


As I grew up in my aloneness books became my only companion. I spent a good deal of time in bookshops turning over the pages of books. I used to think if only my life were a thousand years long I could read all these books. 

The major ailment, the king of all diseases entered and my reading habit interpreted it differently.



I started getting strange feelings or thoughts, like tingling or deja vu, while returning from school crossing the traffic lights I spotted a white ambassador car that looked familiar and drew me towards it. More commonly, I had an auditory hallucination and I imagined a specter going along with me. It still persists. I stood on the roof and saw bubbles of lights floating past. Then I laughed or cried for no reason. I dreamt of aliens contacting me. 



Dismissing the symptoms as untrue or psychological. It was insulting and demeaning to have a physician invalidate what I was experiencing and I had to go for a psychologist's treatment and put under dissociative drugs.




Under psychological treatment, I became repellently fat like Mr. Pyecraft with a serious obesity problem.



After my subtotal thyroidectomy, I developed HypoPara and got attacks of tetany or hypocalcemia.



Next, my mother noticed continual jerkings or spasms of the left side, usually a leg, and called my father, and both tried the application of pressure on the limb to calm it down but it started again. Then it was found that because of my migraines an MRI was done where a tiny spot was found which has grown over 5 times in a few years.


When Philip K Dick entered my life, his words "Reality is that which, when you stop believing in it, doesn’t go away” touched my brain in the wrong way. I had odd sensations, fidgety and nervous but didn't understand my feelings. I had odd nightmares but told my mother that aliens are trying to get in touch with me so just keep everything hush! I could hear things which others couldn't and see stuff which nobody did! I asked my mother to be sure of that and was convinced either I could see ghosts and hear them or aliens are trying to get in touch with me. I was happy with the thought. This hushing up delayed my diagnosis.


Supratentorial hemangioblastoma is a rare and benign neoplasm. Very scarce literature is available regarding supratentorial HB. Supratentorial HB, which is quite rare, was first described in 1902.


I recall I came to, regained consciousness in the OT during my brain surgery in 2006 and saw blood streaming out from under the head and the anaesthesiologist yelling "She needs more blood her hemoglobin is dropping." The doctor didn't take enough care and put me on the verge of uncertainty.


While I was pushed out of the OT in a trolley I was telling Mum there's no sense in the left side. My leg and hand were numb. I couldn't even make a fist. 


My recovery is always fast and with physiotherapy, I could squeeze a softball and slowly climb the stairs. 


Currently, I am suffering the consequences of Leptomeningeal dissemination of hemangioblastomas of the central nervous system (CNS) which is extremely rare. Between 1902 and 2013, approximately 132 cases were reported. 


Without previous surgery such cases haven't been reported, it is due to spillage and spread of tumor cells through the cerebrospinal fluid used for cushioning purposes in patients with a genetic predisposition to the condition. I made up my mind to keep myself well-informed so that I don't get into such situations.



It was a complete bolt from the blue. Within four months of my brain surgery and three months of my father’s massive cardiac arrest, a doctor suddenly declared that my liver had tumors in perilous positions, compressing and displacing the vital veins and I have only six weeks to live! I need an urgent liver transplant.


My parents sold every piece of jewelry along with all belongings and every investment after retirement was broken but we didn't have enough money for the transplant. 


I had a liver transplant owing to several tumors in the liver which could not be taken out individually causing excruciating pain due to frequent hemorrhages in 2008. The lesions caused splaying compression and displacement of the major veins.


There wasn't any awareness of rare diseases back then, and therefore I had to suffer from the pain. During the second time, I had a hemorrhage decision were taken to prepone the delayed transplant 


The transplanted liver needs the immune system to be suppressed so that it isn’t rejected like any pathogen. Immunosuppressants are expensive life-saving medicines. I am on immunosuppressive medicines for life.


Immunosuppressive treatment begins during the surgery and continues throughout the patient's life. Regular blood tests and other maintenance strategies by which medicines at specific doses are adjusted periodically by constant monitoring to prolong the transplant recipient's life.

The medication has the potential to interfere with the processes in the body that prevent infection and this interference is what allows the medication to work.  


This almost implies that if you are taking some of these medications you will fall ill every time you pass by someone with the sniffles along, with the big stuff like flu, or tuberculosis, or end up with Covid like I am currently fighting or trying to fight the virus.



I was diagnosed with tuberculosis after my father's demise which was later found to be Multi-drug-resistant Tuberculosis and Dr. Randeep Guleria treated me for it after 2 years of disappointing treatment at Medanta.


My father foregoing his bypass surgery and with 80% of his heart blocked, he ran from pillar to post to arrange my liver transplant at Sir Gangaram Hospital.



Our mission liver transplant was ultimately a success.


My father was at a loss as to how to manage. The very thought of how he will arrange my immunosuppressive (anti-rejection medicines) and other medicines and the plethora of illness that an organ transplant and VHL affliction brings... brought my father out in a cold sweat and he passed away leaving us homeless and penniless. And our toughest days began when we had no idea how to arrange for food for the next day.


Mum never gave up on her child even when I went through surgeries upon surgeries, she arranged everything herself, ran to an apothecary or an NGO to get help. She sustained me and is my caregiver.


I have a rare disease called VHL or Von-Hippel Lindau--this is a cancer-suppressing gene and those people who have VHL disease have a mutation, turning you into a tumor-producing factory.


In my case, blood-filled tumors form in up to 10 organs of the body.


The only treatment is the removal of tumors, irradiation, and monitoring 


 The mutation of the gene is confirmed in AIIMS research.



There are myriad challenges of having a malady. I have the most unusual disease known to humankind. It becomes a fateful condition where you can't afford to be ignorant and continue being tired if you desire quality and extension of your life.

There is an intense, somber, indefatigable strife where you don't have to worry only about healing because recovery is a tough process that takes time and patience leaving scars behind but you have to bother about financial demands to get a proper diagnosis and the desirable treatment regime.



"If growth occurred without evolution, cancer cells would not be imbued with their potent capacity to invade, survive, and metastasize. Every generation of cancer cells creates a small number of cells that is genetically different from its parents...This mirthless, relentless cycle of mutation, selection, and overgrowth generates cells that are more and more adapted to survival and growth. In some cases, the mutations speed up the acquisition of other mutations. This genetic instability, like a perfect madness, only provides more impetus to generate mutant clones. Cancer thus exploits the fundamental logic of evolution, unlike any other illness. If we, as a species, are the ultimate product of Darwinian selection, then so, too, is this incredible disease that lurks inside us.” from Emperor of Maladies by Dr. Siddharth Mukherjee


Hence the growth of new blood vessels or angiogenesis is not so much a disease as a phenomenon, the result of a basic evolutionary compromise. As a body lives and grows, its cells are constantly dividing, copying their DNA — this vast genetic library — and bequeathing it to the daughter cells. They in turn pass it to their own progeny: copies of copies of copies. Along the way, errors inevitably occur. Most are random misprints.


Over the eons, cells have developed complex mechanisms that identify and correct many of the glitches. But the process is not perfect, nor can it ever be. Mutations are the engine of evolution. Without them, we never would have evolved. The trade-off is that every so often a certain combination will give an individual cell too much power. It begins to evolve independently of the rest of the body. Like a new species thriving in an ecosystem. For that, there can be no easy fix.


Thus recovery or cure is a forlorn hope as this growth phenomenon exploits evolution, Darwinism. All we can do is increase longevity, thereby attempting to understand the phenomenology behind VHL and increase the efficacy of modern medical techniques. Increasing the outcome of the average lifetime has to be the motto.


A surgeon once told me he shall pray that nobody gets this fatal rare disease.


Currently, I have even approached the Delhi High Court asking for aid for my treatment and the case is under consideration. 


Fundraising efforts are not working as there's less awareness.



Von Hippel-Lindau disease is a neurocutaneous syndrome. A neurocutaneous syndrome causes problems that affect the brain, spine, and nerves (neuro), and the skin (cutaneous).




In Von Hippel-Lindau disease, tumors most commonly develop in the brain and retina of the eyes. These tumors, called angiomas, consist of blood vessels. Other types of tumors develop in other organs and include tumors in the adrenal glands (pheochromocytomas) and cysts in the kidneys, liver, or pancreas. As people with the disorder age, the risk of developing kidney and pancreatic cancer increases. vHL patients battle a series of tumours. vHL gene is involved in many forms of cancer. Curing vHL brings us closer to curing many forms of cancer. 


I haven't been given a choice in a life with mountains of books and chocolate bearing trees so why not face this life head on?




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