It Whether you are a patient, a parent, a doctor, a relative, or a medical student, a rare disease will affect you, or someone you know, in your lifetime.
But my heart was like a sponge, sucking up feelings and emotions, even pain. Born with a soul of a mermaid who could only suffer pain since mermaids have no tears I suffered more acutely. I could hear the voice of the witch " Every step she took was as the witch had said it would be; she felt as if she were treading upon the points of needles or sharp knives." But this is fantasy, let's come to the scientific view behind the pain.
A likely candidate in the brain area to coordinate pain modulation with goal-directed behavior is the frontal lobe. Evidence suggests that the dorsolateral prefrontal cortex, comprising Brodmann areas 9 and 46,
is important for continuous monitoring of the external world, maintenance of information in short-term memory, and governing efficient performance control in the presence of interfering stimuli. However, the frontal lobe may not have a unitary role in pain processing, as orbitofrontal and medial frontal lesions diminish pain-related behaviors as seen in animals. Frontal lobe activity during pain is generally related to cognitive and attentional processing of painful stimuli. Pain modulation robustly because it requires behavioural flexibility and the ability to suppress prepotent response tendencies to guarantee optimal adaptation. The interaction of the prefrontal cortex with the midbrain, thalamic, striatal, and cingulate structures of the limbic system may thus reflect the active manipulation of the behavioral dominance of pain dependent upon motivational and emotional context.
It is found that the ability to maintain performance accuracy in a short-term memory task during experimental painful muscle ischemia correlates positively with frontal lobe activity measured by event-related brain potentials elicited by the memory stimuli. The ability to suppress prepotent response tendencies to guarantee optimal adaptation. In contrast, acute pain from normal tissue requires less flexible, more habitual reactions to the threat of impending tissue damage.
As we got to know a prior post prefrontal cortex (PFC) is the cerebral cortex covering the front part of the frontal lobe. This brain region has been implicated in planning complex cognitive behavior, abstract thinking, personality expression, decision making, and moderating social behavior. The basic activity of this brain region is considered to be the orchestration of thoughts and actions in accordance with internal goals. relates to abilities to differentiate among conflicting thoughts, determine good and bad, better and best, same and different, future consequences of current activities, working toward a defined goal, prediction of outcomes, expectation based on actions, and social “control” (the ability to suppress urges that, if not suppressed, could lead to socially unacceptable outcomes).
So from science back to story. 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 behavioural flexibility suppressed 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.
It is all behind me but the hon'ble reason is of profound importance in my life.
When my brother was born I was twirling in merriment in front of the mirror and fell down. My left foot swelled up like freshly baked bread and a bluish knot appeared.
I was only 3 years of age and my father took me to an eminent doctor who has written a chapter on orthopedic surgery which is taught in the UK. He used to jab and poke every angle of my body with his son-in-law. Perhaps he was looking for my pains and weaknesses while my father used to sit outside. Wounded, hurt, damaged I wouldn't utter a word when auto-vaccines were jabbed in my butt. I couldn't climb the stairs. I dragged myself up then into the bed. I was never fragile or vulnerable, nonplussed or hurt with a cool attitude, I always said there was no pain thinking this way I might be able to avoid the doctor. It continued for four years when he told my father he has never been a failure but this was the first time. But his unfortunate treatment with cloxacillin made me resistant to plenty of antibiotics.
Another doctor said they'd open up both feet and one said he'll have to do multiple surgeries. Guinea pig at such a young age!
The unusual birth of the eye-catching child of fond parents after a miscarriage and fet000us 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.
When my Grandfathers asked about my prognosis parents responded, " No she never complains of pain, the doctor says it's just an inflamed swelling at the left foot."
The tumor was black and blue at the metatarsal and many Ayurvedic, homeopathic were sought as my parents were desperate, knowing that option wasn’t really an option at all.
The quacks poked and prodded but I gave them a sweet smile like I did to everyone else but I shut off my feelings so that I don't explode in pain.
Then ultimately I got a surgical resection at the age of 12. Recently I spoke to the assistant of the surgeon and he mentioned it was a thing to remember then he got carried away saying it was a blood-filled tumor and bled like it was a potential danger then when I mentioned my current brain condition which has happened due to spillage of tumor cells in the brain, he stuttered and stopped but next time I called I heard a curt " Don't disturb now."
Another surgery was done when I was 13 years old and it became debatable between 2 labs where the specimen was given if it's cancer or not.
The neurocutaneous syndrome is a group of neurologic disorders of the brain, spine, and the peripheral nervous system. These diseases are lifelong conditions that may induce a tumor growth inside the skin, organs, skeletal bones, brain, and spinal cord.
These disorders are usually genetic and arise due to abnormal cell development at the embryo stage. The result is characterized by the development of tumours in various parts of the body. Even though some can be diagnosed at birth, most of them do not display symptoms until late. These syndromes cannot be cured, but various treatments can assist to manage the symptoms and any health concern.
On the basis of type, the global neurocutaneous disorder market can be segmented into Tuberous Sclerosis (TS), Neurofibromatosis (NF), Sturge-weber syndrome disease, Ataxia-Telangiectasia (A-T), Von Hippel-Lindau disease (VHL), and others.
At my time there were no Google or open-source research files. My parents wasted time with practitioners who had too many ignorant, uneducated opinions. Ignorance was everywhere.
I started getting strange feelings or thoughts, like tingling or deja vu, while returning from school crossing at the traffic lights I spotted a white ambassador car which looked familiar and drew me towards it. More commonly, I had an auditory hallucination and I imagined a specter going along with me. It happened from a very early age and still persists. I stood on the roof and saw bubbles of lights floating past. Then I laughed or cried for no reason. I dreamt aliens contacting me.
Dismissing the symptoms as untrue or psychological. It was insulting and demeaning to have a physician invalidate I was experiencing and I had to go for psychologists treatment.
Under their treatment, I became repellently fat-like, Mr. Pyecraft with a serious obesity problem.
After my subtotal thyroidectomy, I developed HypoPara and get attacks of tetany. Recently
These hemangioblastomas were found in a routine neck ultrasound.
Next, my mother noticed continual jerkings or spasms of the left leg, usually a leg, and called my father, and both tried application of pressure on the limb to calm it down but it started again. Then my subtotal thyroidectomy was scheduled where it was found that because of my migraines an MRI was done where a tiny spot was found which has grown more than 5 times in a few years.
Supratentorial HB is a rare and benign neoplasm. Very scarce literature is available regarding supratentorial HB. Supratentorial HB, which are quite rare, were first described by Bielschowsky in 1902.
They are most commonly found in the frontal lobe of the cerebrum followed by parietal and temporal lobe. Mine was in the parietal lobe.
Embolization was necessary before the prior surgery else all will end up like me.
I recall I came into the OT during my craniotomy in 2006 and blood flowing out from under the head and the anaesthesiologist yelling I needed more blood because my hemoglobin was 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.
I had no idea it was unstoppable.
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 largest lesion caused splaying of the portal vein around the lesion. Hepatic veins were compressed and displaced by the segment 4&8 mass lesion. I had two episodes of bleeding in the hemangioblastomas and required hospitalization.
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.
The essence behind continuing an immunosuppressive regimen is that the transplanted organ into the body of the host is not similar in genetic structure(DNA) of the recipient.
We have been endowed with a wonderfully complex structure called the immune system to protect us from viruses which are essentially nucleic acid DNA or RNA.
Hence, the immune system not having the capacity to distinguish between a new organ transplanted to save life destroys it instead which results in rejection.
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 and prevent acute or chronic rejections of the graft.
All immunosuppressants leave the patient more susceptible to infections and less able to fight them off.
Soon after discharge I got viral infection varicella and was treated with Zovirax.
With the visceral tumors putting two and two together I was diagnosed with von Hippel-Lindau (VHL) disease is a hereditary devastating cancer syndrome, predisposing to the development of various benign and malignant tumors (Central Nervous System [CNS] and retinal hemangioblastomas, endolymphatic sac tumors, renal cell carcinoma (RCC) and/or renal cysts, pheochromocytomas, pancreatic cysts, and neuroendocrine tumors, endolymphatic sac tumors, epididymal and broad ligament cystadenomas). VHL disease is the first cause of hereditary kidney cancer.
The von Hippel–Lindau hereditary cancer syndrome was first described about 100 years ago. The unusual clinical features of this disorder predicted a role for the von Hippel–Lindau gene (VHL) in the oxygen-sensing pathway. Indeed, recent studies of this gene have helped to decipher how cells sense changes in oxygen availability and have revealed a previously unappreciated role of prolyl hydroxylation in intracellular signaling. These studies, in turn, are laying the foundation for the treatment of a diverse set of disorders, including cancer, myocardial infarction, and stroke.
The Von Hippel-Lindau disease is different in every patient, even within the same family. Therefore it is very difficult to predict how and when the Von Hippel-Lindau disease will present in the individual. There is no drug available till date to cure the Von Hippel-Lindau disease.
The tumors can occur in ten different parts of the body
Brain
Spine
Eyes
Kidneys
Adrenal Glands
Pancreas
Liver
Lungs
Inner Ears
Reproductive Tract
I am an MDR- TB survivor with pulmonary, lymph, and bone involvement.
The fun ingredient of life is not only you get bombs in your lungs wherein you gotta lie low hoping they won't go off; they can be diffused by a squad with proper knowledge. Looking forth to sunshine so that the landmines (leptomeningeal hemangioblastomas) don't blow me off with an utter BOOM!
Fever, cough, is very common for me to get along with allergies. I feel my nose burning in the city atmosphere damaged by pollution.
Then a darkness spread around:
I saw nought; I heard no sound:
Solid darkness overhead,
With a trembling cautious tread
Passed I o’er the unseen ground.~ Cristina Rosetti
Few nights I sleep profoundly but don't find any good reason for waking up in the morning. Instead of the morning sun streaming in through the open windows and sparkling on my bookshelf it feels mostly spooky dead-quiet stillness in the morning haze and everywhere it's smokey and smoke creeping in through the crevices in the ill-fitted window frame.
Then unexpectedly after a tetany attack I got my routine ultrasound of the neck and whole body CT scan and two budding brain tumours were found. I was advised to get a cyberknife before they grow. Just 6 months after cyberknife I got Leptomeningeal Hemangioblastomas.
All patients who underwent primary surgery for HB of the CNS.The median interval from initial surgery on HB of the CNS to identification of leptomeningeal dissemination was 96 months I was diagnosed in 60months.
It is very rare approximately from 1902-2013 only 132 cases have been globally reported. I am not sure if anyone has the same tumours in India. From 2013 I had posted to EURORDIS and Rare disease and never found any.
Because no case of de novo development of disseminated HB without previous surgery has been reported, it is strongly suggested that the spillage and spread of tumour cells through the CSF space may be an origin of hemangioblastomatosis in patients with a genetic predisposition to the condition, Care should be taken to avoid tumour cell spillage during surgery.
In 2015 it destroyed my right optic nerve and I am partially blind even after killer sessions of radiation therapy. After 2017 radiation therapy of two growing tumours I got trigeminal neuralgia and chronic ischemic brain.
History repeats itself, after Trigeminal neuralgia Mr Pyecraft's humiliating condition haunted my life.
Trigeminal neuralgia (TN), also known as tic douloureux, is a disorder of the fifth cranial nerve (trigeminal nerve). It is characterized by attacks of intense, stabbing pain affecting the mouth, cheek, nose, and other areas on one side of the face. Sometimes there's a constant dull aching or burning pain. Both types of pain can occur in the same individual, even at the same time. In some cases, the pain can be excruciating and disabling. If untreated, TN can have a profound effect on a person’s quality of life. In most cases, TN develops due to a blood vessel pressing against the trigeminal nerve, but sometimes no underlying cause can be identified (idiopathic). It can also be idiopathic, due to compression of the trigeminal nerve, or can occur due to a known underlying cause such as a tumor or multiple sclerosis. TN can usually be managed through medications, surgery or injections, or stereotactic radiosurgery. I have a rare bilateral manifestation.
Cerebral ischemia or brain ischemia, and when there isn’t enough blood flow to the brain leading to limited oxygen supply it may lead to the death of brain tissue, or ischemic stroke.
After cyberknife of trigeminal neuralgia in Mumbai I got serious problems.
I can't stand fall for a long time. My mom is short heighted but she helps me in the house.
I vomit suddenly
I have neck pain and headaches
Swallowing problem. I got choked on rice and coughed my lungs out. Need to take mostly semi-solid food and have lost 12 kgs since May 2020. Mashed sweet potatoes with boiled salmon or tuna. And spinach soup, oats, strawberries and walnuts made into a puree in the mixer.
I bite my tongue while eating or speaking and dentist said to use lidocaine (anesthetic)
A metallic sound in my ear.
I can't hold things properly and drop them
I have to crush my medicines even Sirolimus to take them. MyCept which used to be Rs 250/ strip is now Rs 4500 / bottle have been of oral solution.
Tongue gets paralysed for a day.
Voice becoming heavier.
It is suspected I have Glossopharyngeal neuralgia (GPN) which is a somewhat rare condition characterized by severe, fierce episodes of pain localized to the external ear canal, the base of the tongue, the tonsil, or the area beneath the angle of the jaw. This pain is many times confused with Trigeminal Neuralgia and mistreated. It is related to hyperactivity of the glossopharyngeal nerve. GPN is rare compared with TN. The pain affects the sensory areas corresponding to the glossopharyngeal neuralgia with a branch of sensory vagus nerves. GPN consists of spasmodic, momentary, and severe sharp pain in the posterior area of the throat, tonsillar fossa, base of the tongue, ear canal, and areas inferior to the angle of the mandible. Generally, the pain persists for seconds to minutes and is often triggered by chewing, coughing, yawning, talking, and swallowing. Since Glossopharyngeal neuralgia is a relatively rare condition There are various diagnostic and management dilemmas.
Glossopharyngeal neuralgia is believed to be caused by irritation of the ninth cranial nerve, although in most cases, the source of irritation is never found.
Rare disease patients and caregivers often shoulder a considerable burden for their disease and find it necessary to educate physicians about their condition and serve as becoming their own advocates.
The complexity of their existence, the trials of maladies forced me to struggle to live.
The will to live is an unstoppable thing. Most people live only when they are about to die.
The electrons can be made to strike a tungsten target within the head of the accelerator to create a beam of photons (or “X-rays”). These X-ray beams are then directed at the site of cancer. Photons have no charge or mass and can be regarded as small packets of energy. Photons deposit their energy along the entire path that they travel through the body. Therefore, a beam of X-rays irradiates not only the area of the tumor but also the healthy tissue that the beam encounters on its way towards the tumor and beyond the tumor. X-rays used for treating cancer usually do not stop within the body. X-rays travel right through you. On the other hand, proton beam therapy is delivered by larger, much more expensive accelerators called cyclotrons and synchrotrons.
A proton beam directed at a tumor travels in a straight trajectory towards its target, gives off most of its energy at a defined depth called the Bragg peak, and then stops. While X-rays often deposit more energy within the healthy tissues of the body than within the tumor.
Life so short, good and great
Some feel joy and bliss in pain
Weariness, toil and threat
Sea of pain and grief
Makes some weak and pale
Bitter life and endless pain
Joy, pain, anger, fear loss, and gain
Keep on taking challenges of the day
Conquer them, your ability will make you float or sink
Don't lose hope because life is brief.
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