I resuscitate ceaselessly, I wage wars with verve, In a point of no return, Yes, A Warrior Princess I am. ~a rare disease patient, author, & blogger with TOI
Sunlight helps you to soak up
Joy, blissful happiness as the soul wakes up
Life is a source of inspiration
The positive energy fuel satisfaction
I am not someone who is suffering
Low self-esteem or lack of confidence
I feel ample enthusiasm
Sun bring out your personal power
Living a dream life visualize aspirations every day
Extra boost of confidence or courage.
It's a ghastly joke of fate along with all the coexisting rare diseases the Creator forgot to add this one. If he had an alert mind he would have done so and I would have benefited from NATIONAL POLICY FOR RARE DISEASES, 2021 where only those diseases diagnosed as a baby or child are included and only those who don't look smart are denied but funny are accepted. I never had any delay in intellectual and physical development. I would have never been chosen. Everything is inside. My missing liver which has been stitched back with a replacement; my left kidney, part of which is gone forever; my brain which has been burnt by radiation beams. resulting in an ischemic brain and the tumours scattered inside sparkling like a star punched sky yet the "little grey cells" had worked out an exceptional detective book during lancinating pain with one-eyed vision and typing with the index finger of the right hand because after the hand got palsy and was treated with high-dose steroids the hand doesn't work like before and the left hand after recovering from paralysis didn't get back the sense of touch and both halves of brain lost coordination and refuse to work together. Also writing for Times of India digital without honorarium.
I can work out more books and encouraging posts for society if my compressed nerves are restored into functional mode.
NPRD is a game of charade. This newfangled policy doesn't seem fair.
In their policy, all diseases to get support chosen by the committee and the ministry are pediatric diseases and prevalent in children.
I was once a child because I am not Benjamin Button. I grew up suffering all the time from a variety of symptoms and fatal diseases.
Adulthood diseases are only
Osteoporosis
Tyrosinemia - a metabolic disorder
Pompe disease - a lysosomal disorder in juvenile/adult form
GSD may appear in adults
All diseases are metabolic disorder or fall under lysosomal storage disease
This is a loathsome distinction.
"Support those interventions that would provide more number of healthy life years for a given sum of money while simultaneously looking at the equity i.e., interventions that benefit poor who cannot afford healthcare are prioritized."
The idea is that you take the cost of any treatment and then calculate not just how many lives it saves, but the quantity of life it saves which is absurd. ( This looks like a business strategy)
The beautiful simplicity of the ideas astounds me. Getting only one-time treatment for little ones, lifetime or long-term treatment and treating them cheap.
We are poor and abandoned with only Rs 7000 mother's pension which is spent mostly on food and my mother's health needs as she is almost a septuagenarian and the nagging worries about rent, electricity and water bills, food and then medicines with surveillance and doctor's fees and conveyance charges. My personal income is almost nil after my rare thoughts and manuscript of a good book " Adventures of Mum and Princess" - an anthology detective stories was stolen by the owner of 3 English speaking schools for the purpose of syllabus of classes 8, 9,10. I wrote this book at the peak of pain of Trigeminal Neuralgia.
Health authorities offered a policy with negotiated contracts where hospital becomes a shop, all kinds of treatment becomes a piece of merchandise, and normal business practices prevail : pile 'em high and sell' em cheap because diseases treated by enzymes or food are only chosen.
They don't understand when medicine is socialized, then you have true health care. When everyone's treatment is the same regardless of the socioeconomic position or age there will be justice. Otherwise, there will always be a tormenting distress about someone somewhere else getting what you are not.
This newly minted policy is an irony that the government is taking care of handful of citizens.
This is not helping, but swamping those who are rare and need to fight daily for life, not just recuperate but also keep thinking about how to live, how to arrange food, medicines and a roof above the head and how to be relatively healthy. It's tragic that the government thinks "life and health of a citizen an unfair burden".
Government support for those listed in the groups with only 20 lakhs, compels me to say this government does not value human life.
It is unfair even for those chosen.
Disorders that are amenable to other forms of therapy (hormone/ specific drugs)
i) NTBC (Nitisinone) for Tyrosinemia Type 1 --₹ 50,000/ Vial-manufacturer -Roche- on demand
ii) Osteogenesis Imperfecta – $100- $200 for Bisphosphonates therapy
iii) Growth Hormone therapy for proven GH deficiency, Prader Willi Syndrome and Turner syndrome, Noonan syndrome. -cost for a 20 kg child would be Rs 200,000 per year.
iv) Cystic Fibrosis- Pancreatic enzyme supplement -The cost of enzyme replacement treatment was US$ 6881,63 ± 2334,04/year; US$ 6778,19 ± 2339,26/year in the tumor group; US$ 7096,78 ± 2356,17/year in pancreatitis group.
v) Primary Immune deficiency disorders -Intravenous immunoglobulin -Bharglob 16.5% Inj. 2ml Serum 200 International and sub cutaneous therapy (IVIG) --$5736 per first 3 years of therapy replacement eg. etc.
vi) Sodium Benzoate( ₹ 300.00) , arginine (₹ 1,699.00), citrulline (₹ 2,500.00), phenylacetate --₹ 1,000/ Kilogram (Urea Cycle disorders), carbaglu (Rs 80000/kg), Megavitamin therapy--Rs 8000- Rs 18000, says Dr. Mittal(Organic acidemias, mitochondrial disorders)
vii) Others - Hemin --costs British pound sterling 1125 for 4 x 10 ampoules.(Panhematin-313 mg is around $7,558) for Acute Intermittent Porphyria, High dose Hydroxocobalamin injections- 5.35 Euro(30mg/ml formulation – not available in India and hence expensive if imported)
viii) Large neutral aminoacids( ₹ 1,189.00), mitochondrial cocktail therapy ($1,000 per month), Sapropterin (Rs 4000/bottle) and other such molecules of proven clinical management in a subset of disorders
Based on the literature sufficient evidence for good long-term outcomes exists for the following disorders
1. Gaucher Disease (Type I & III {without significant neurological impairment})
Gaucher disease is categorized as a lysosomal storage disorder (LSD)
Enzyme replacement therapy for Gaucher’s disease, which is available in India, costs about Rs. 40 lakh to Rs. 1 crore a year, depending upon the weight of the child.
2. Hurler Syndrome [Mucopolysaccharisosis (MPS) Type I] (attenuated forms)
MPS I is member of a group of hereditary metabolic diseases known as the mucopolysaccharidoses which, in turn, are part of a larger group of diseases known as lysosomal storage disorders (LSDs) - 46 lakhs approximate annual cost per 10 kg child
3. Hunter syndrome (MPS II) (attenuated form)- 1 crore approximate annual cost per 10 pkg child
4. Pompe Disease (Both infantile & late onset diagnosed early before development of complications) This disorder belongs to a group of diseases known as lysosomal storage disorders. 49 lakhs approximate annual cost per 10 kg child
5. Fabry Disease diagnosed before significant end organ damage. Cost of ERT- 20 lakhs approximate annual cost per 10 kg child(This disorder belongs to a group of diseases known as lysosomal storage disorders.)
6. MPS IVA before development of disease complications.- 1.3crores approximate annual cost per 10 pkg child
7. MPS VI before development of disease complications.- 1.1 crores approximate annual cost per 10 pkg child
To almost all of them it will not suffice ( expenses are an approximate value)
What is required
Financial support upto Rs. 20 lakh under the Umbrella Scheme of Rashtriya Arogaya Nidhi shall be provided by the Central Government for treatment, of those rare diseases that require a one-time treatment (diseases listed under Group 1) is Disorders amenable to one-time curative treatment:
Disorders amenable to treatment with Hematopoietic Stem Cell Transplantation (HSCT) –
Disorders amenable to organ transplantation
I had a liver transplant give me back my money along with expenses of surveillance.
State Governments can consider supporting patients of such rare diseases that can be managed with special diets or hormonal supplements or other relatively low cost interventions (Diseases listed under Group 2) is ridiculous.
Keeping in view the resource constraints, and a compelling need to prioritize the available resources to get maximum health gains for the community/population, the Government will endeavour to create alternate funding mechanisms through setting up a digital platform for voluntary individual and corporate donors to contribute to the treatment cost of patients of rare diseases.
Well, then Coca-Cola, IAM, Being Human, Tata trusts, Hans Foundation etc should support for life without delay. But I am certain this would never happen because Director and ambassador of Coca-Cola was in school with me, Tata trusts vaguely denied in 2020, IAM helped me once but now according to them they only help children, Being Human is unreachable, Hans Foundation approved my cyber knife but then denied because cost was very high 5 lakhs in 2020.
Like Mexico's legislation for rare disease that authorized Seguro Popular, a national health insurance, this ought to be done in this country for all ages but not for a handful of diseases and amount ought to be enough to meet the expense of every patient after calculating every expense of surgeries, procedures, surveillance, medicines.
The plight of rare disease patients with caregivers is known to doctors and the government.
It should be acknowledged the needs of everyone touched by rare diseases and provided all factors of care.
We need a plan to better coordinate efforts by governments involved in addressing the challenges and ensuring that all people with rare disorders across the country can enjoy the same timely and high-quality health and social care as patients with more common diseases.
A clear personal care plan for every patient that brings together health and care services.
Making sure patients, their families and carers have the information they need, are listened to and consulted.
Developing better methods of identifying and preventing rare diseases.
Improving diagnosis and earlier intervention for those with a rare disease.These days diagnosis is improved in my opinion. I could find a lot of Indian research done.
According to Dr. Rajiv Sarin they have found 40-50 VHL patients in Tata Memorial.
Indian journal of anaesthesia and Indian journal of endocrinology and metabolism contains few (10)such articles where I see in Army hospital parathyroid injections are available not for civilians
Better education and training for health and social care professionals.
After several misdiagnosis and diagnostic dilemmas in 2008 I was diagnosed with a very rare disease hardly known in India, called VHL or von Hippel Lindau during my landmark liver transplant. I can still recall the faces of the radiologists checking my tumour studded liver with their probes and looking at my file with a weird name “VHL” with vacant faces and regarding me quizzically. Yes, the liver transplant was a life and death affair and we had no money to get the liver transplant done which was a whopping> 30 lakhs!
Therefore I believe there's already enough awareness amongst health care professionals but not those who run NGOs amongst common people. Few can't distinguish between immunosuppressants and immunotherapy!
Building on research to improve personalised approaches to healthcare for those with a rare disease.
NPRD gently and politely smashed hopes for continuing my treatment by choosing a handful of diseases by foretelling and quantifying the quality of human life.
Serious health priority patients with rare diseases should have equitable access to effective services. By bringing in a lasting change offering better health and quality of life for individuals and families affected by rare diseases would lead to a positive change. By ensuring that patients and families living with rare conditions have equitable access to high-quality services, treatment and support.
Can this orphan drug be imported for me?
Though in the last two decades, due to advancement in technologies, understanding of the pathophysiological mechanisms of rare genetic disorders has somewhat improved, yet the treatment modalities are few and the available therapies may not lead to “cure’. Here I think I have heard AIDS doesn't have cure for almost half a century but gets support and rehabilitation.
About "clinical trials and studies." I might say I have been into studies where with my knowledge I can preserve my life and there have been several studies cited in Part 1.
Central nervous system hemangioblastomas are cardinal feature of VHL syndrome and occur in 60-80% of VHL patients, with cerebellum being the most common
site . VHL syndrome associated hemangioblastomas frequently expresses SSTR . Ambrosini et al. have previously demonstrated in vivo SSTR expression in VHL associated hemangioblastoma with 68Ga-DOTANOC PET-CT. In the present case 68Ga-DOTANOC PET-CT detected previously unknown cerebellar hemangioblastoma, which was confirmed on contrast enhanced MRI. Retinal angiomas (hemangioblastoma) are the most common presenting feature of VHL disease as was in the present case, though not recognized at that point of time. 68Ga-DOTANOC PET-CT detected the retinal lesions and were subsequently confirmed with MRI. To our knowledge, there is no previous published report of imaging retinal hemangioblastoma with 68Ga-DOTANOC PET-CT.
~ Von Hippel-Lindau Syndrome: Demonstration of Entire Disease Spectrum with 68Ga-DOTANOC PET-CT Punit Sharma, MD, Varun Singh Dhull, MD, Chandrasekhar Bal, MD, Arun Malhotra, PhD, Rakesh Kumar, MD, PhD All authors: Department of Nuclear Medicine, All India Institute of Medical Sciences, New Delhi 110029, India
This is the most important study because it establishes my leptomeningeal hemangioblastomas.
Increased levels of growth factors lead to angiogenesis. While HIF-1 a inhibits cell growth it is HIF-2a that drives tumour progression. In RCC there is hypoxia associated factor which drives increased levels of HIF-2a. They play a crucial role in tumour promotion in other cancers including breast, brain, colon, gastric, lung, skin, ovarian, prostrate, renal and pancreatic.
ICMR has funded research on VHL and is well aware HIF is involved in GBM (Glioblastoma can be difficult to treat and has a high recurrence rate. Treatments may slow down the progression of cancer and reduce signs and symptoms. Glioblastomas are often incurable and fatal too).
I am citing an example where it says cure isn't very far away
Here I may say “Von Hippel-Lindau disease is a rare genetic condition for which there is no systemic treatment option available and is associated with a high risk of cancer development in multiple organs. In fact, up to 70% of patients with VHL develop renal cell carcinoma during their lifetime,” said Scot Ebbinghaus, MD, vice president, clinical research, Merck Research Laboratories, in a press release.
MK-6482 is a selective inhibitor of HIF-2α, which is a protein that can accumulate in patients when VHL is inactivated. Without regulation, this accumulation can cause the stimulation of several oncogenes associated with cellular proliferation, angiogenesis, and tumour growth.
Mutations of VHL genes are also part of causes of other tumours including breast, colon etc.
VHL is the key to understanding how tumors grow and how potential theories can inhibit angiogenesis.
According to Dr. Rajiv Sarin they have found 40-50 VHL patients in Tata Memorial.
I feel sorry there's no advocacy group for such a serious and high priority disease.
Mr. Narendranath Vikkath, biotechnologist and lecturer at Amrita institute of medical sciences said,
"In India we don’t have data i guess. May be you can get individual case reports"
Other names of VHL gene
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
When the VHL protein is altered or missing, the VCB-CUL2 complex cannot target HIF-2α and other proteins to be broken down. As a result, HIF can build up in cells. Excess HIF stimulates cells to divide abnormally and triggers the production of blood vessels when they are not needed. Rapid and uncontrolled cell division, along with the abnormal formation of new blood vessels, can lead to the development of cysts and tumors in people with von Hippel-Lindau syndrome.
"Considering the limited data available on rare diseases, and in the light of competing health priorities, the focus would be on prevention of rare diseases as a priority for all the three groups of rare diseases identified by Experts. Public Health and hospitals being a State subject, the Central Government would encourage & support the States in their endeavour towards screening and prevention of rare diseases through Centres of Excellence under Rare Disease Policy and Nidan Kendras under Department of Biotechnology."
- Unless new fields are explored how will knowledge increase. I have leptomeningeal HB due to the fault of the doctor during a surgery. How will he realize? I got back from the jaws of death in the debridement but until the doctor had sudden doubt something had gone wrong and called his senior how would he have known? Instead of being a doctor he would have turned out to be a killing machine.
Nidan Kendra will be effective for the generation after the next.
Even if there's no cure they are treatable and treatment increases quality of life so why not help to get treatment. Focussing on treatment which is most effective is better idea.
Tobacco increases propensity to TB can you stop Shah Rhukh Khan from being a chain smoker else he will end up with TB so day. Can you predict that?
ICMR has funded research on VHL and is well aware HIF is involved in GBM (Glioblastoma can be difficult to treat and has a high recurrence rate. Treatments may slow down the progression of cancer and reduce signs and symptoms. Glioblastomas are often incurable and fatal too).
There's a good chance of getting old with silver hairs if my venerable disease gets an opportunity for good treatment, my potentials are realized.
" Thus, interventions that address health problems of a much larger number of persons by allocating a relatively smaller amount are prioritized over others such as funding treatment of rare diseases where much greater resources will be required for addressing health problems of a far smaller number of persons."
There are many NGOs in our country who care about orphans, child education, farmers but no one cares for a rare disease patient. Most of them prefer to help on a mass scale to get their names printed on the front page of the leading dailies. Certain individuals become "God-like" but if you try to contact them it's bogus...the general mentality of the country.
Unless pVHL is studied a solution to cancer will never be found.
"Enable access to affordable health care to patients of rare diseases which are amenable to one-time treatment or relatively low-cost therapy."- This won't work, rare disease treatment is mostly expensive and " EQUALITY of status and of opportunity;" from the preamble vanishes into thin air.
"Premarital, post-marital, pre-conception, and post-conception screening", this is supposedly not going to work in a country with a population of over a billion people where you can't explain why the citizens should wear a mask, why there's a need to maintain a distance during a pandemic despite attempts to video shoot aerosols because even educated individuals are ignorant. If any couple wants to marry and have a child they will defy any rule and do so even if marriage and birth certificates aren't given. The population is huge and it's difficult to make them understand.
Instead of that, strategies like: government may create laws aimed at reducing the occurrence of rare diseases that have a preventable cause, such as neural tube defects (NTDs). In 1998, a regulation issued by the US Food and Drug Administration (FDA) went into effect that mandated the addition of folic acid to cereal grain products labelled as enriched in the US. The objective of this regulation was to provide women with an avenue for increasing dietary intake of folic acid, which can help prevent NTDs. As a result of this regulation, just over 1,300 more babies were born without a NTD each year from 1999 through 2011. To date, mandatory folic acid fortification of grain cereals now exist in 86 countries. Can also create awareness.
Reflecting the needs of the rare disease work of the government should be to carry out activities to capture the experiences of those living with a rare disease. This includes conducting surveys of patients and families, consulting with a wider audience on the issues that affect them, to gather evidence and collect opinions.
Voluntary crowd-funding for treatment
Human beings are no longer humane and they don't work hand in hand now and if you ask twice get irritated. They love a lavish life and collecting money. Therefore crowdfunding is an outrageous thought and every platform, Milap, Ketto has their own charges unless you collect a large amount it's useless. The decayed society with affluence. Crowdfunding for 5 lakhs becomes difficult for cyber knife of Trigeminal Neuralgia and when someone donates from abroad gateway fee etc by RBI deducts most of the sum.
The responsibilities and activities of the COEs , I hope these government hospitals will bring a cyclotron or synchrotron in a few days, for those who are in great shape it's okay to wait but for those who are progressing towards the advanced stage need treatment immediately.
All which is needed to lengthen the period and quality of life is a good doctor who is thinking about your health and happiness and not treating you like a guinea pig and not working for his own good and fame. I got the opportunity to choose between good and better doctors four times in my life, during my liver transplant- who didn't say transplanting the liver will cause the tumours to grow once again and it will be a futile effort;
Payel Bhattacharya with Padmasree Dr.Arvinder Singh Soin
MDR TB treatment-cured by Dr Randeep Guleriaa which other doctors couldn't treat for 2 years at Medanta and because those doctors failed because of whom I can't walk properly as I had bone TB and I still need the help of a stick to walk;
Payel Bhattacharya with Director and Prof. Dr Randeep Guleria at AIIMS
my kidney cancer- who understood before taking out the cancerous tumour in kidney doing fine needle biopsy could spread cancer to other parts of the body
Dr Sanjay Gogoi
and trigeminal neuralgia-understood risks of MVD surgery on a leptomeningeal hemangioblastoma patient.
Payel Bhattacharya with Dr.Sankar Vangipuram and team before cyberknife for Trigeminal Neuralgia at HCG Khubchandani Cancer Center Colaba Mumbai.
Perhaps the medical community and the country needs to hear your thoughts, experiences and suggestions in order to change for the better. Instead of accepting whatever the oppressors decide about your life, and health your voice needs to be heard.
To make voices heard
Pluck up the nerve and get together and say where the commodity involved is human life - could never be quantified, quality of life is something you could not put a price on the right to life and healthcare is a fundamental right. Where quality adjusted life years is a pathetic policy, to bring in change you have to be the change.
Patients should come together, represent the views of the rare disease community in key political debates, making sure that your interests are represented on the broad political issues that affect you on the issues that matter to you.
Government should improve the lives of those affected by rare diseases.
Patients enable them to raise awareness. Building up through interactions with patients, families, and treating doctors have more knowledge.
The more we can together raise our voice the greater the likelihood that it will be recognised as a serious health priority and patients and families living with these conditions will have equitable access to effective services. Help us to build the pressure that will lead to positive change!
I am not Benjamin Button with a rare ageing ailment that makes the baby born begin life as an old man and proceed to age backwards.
It's a ghastly joke of fate along with all the coexisting rare diseases the Creator forgot to add this one. If he had an alert mind he would have done so and I would have benefited from NATIONAL POLICY FOR RARE DISEASES, 2021 where only those diseases diagnosed as a baby or child are included and only those who don't look smart are denied but funny are accepted. I never had any delay in intellectual and physical development. I would have been never been chosen. Everything is inside. My missing liver which has been stitched back with a replacement; my left kidney, part of which is gone forever; my brain which has been burnt by radiation beams. resulting in an ischemic brain and the tumours scattered inside sparkling like a star punched sky yet the "little grey cells" had worked out an exceptional detective book during lancinating pain with one-eyed vision and typing with the index finger of the right hand because after the had got palsy and was treated with high-dose steroids the hand doesn't work like before and the left had after recovering from paralysis didn't get back the sense of touch and both halves of brain lost coordination and refuse to work together. Also writing for Times of India digital I can work out more books and encouraging posts for society if my compressed nerves are restored into functional mode.
NPRD is a game of charade. This newfangled policy doesn't seem fair.
In their policy, all diseases to get support chosen by the committee and the ministry are pediatric diseases and prevalent in children.
I was once a child because I am not Benjamin Button. I grew up suffering all the time from a variety of symptoms and fatal diseases.
Adulthood diseases are only
Osteoporosis
Tyrosinemia - a metabolic disorder
Pompe disease - a lysosomal disorder in juvenile/adult form
GSD may appear in adults
All diseases are metabolic disorder or fall under lysosomal storage disease
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.
I was a precocious little girl. I started walking and speaking fluently at the age of nine months. The grim humour 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.
I was only 3 years of age and my father took me to an eminent doctor who has written a chapter on orthopaedic 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.
The tumour was black and blue at the metatarsal and many Ayurvedic, homoeopathic 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 tumour and bled like it was a potential danger then when I mentioned my current brain condition which has happened due to spillage of tumour cells in the brain, he stuttered, stopped and disconnected the call.
The next surgery was within a year and two labs had disputes about the biopsy of the excised tissue and one was sure it's cancer the other held onto views that it was benign.
One night Mum called the doctor crying over the phone but he assured her that at a tender age instead of chemotherapy or radiation he had totally burned the area so that there can be no growth but my parents weren't like me, who could understand science, ask questions and being laymen they accepted the explanation. Yet, I knew my father held a fast for me for a month and after returning from the office he used to eat little.
I was always prone to cold and cough and the family physician told Mum to dry my hair with a hairdryer before going to school.
I was always a slow coach due to my limping legs.
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.
Eventually, I don't remember the age at which I got rid of the tonsils at Woodlands hospital hoping my cold and cough would decrease but they loved me so much they still cling to me.
I remember another incident, I suffered badly due to the ignorance of the teachers at school. I still tremble to think about it. I once had a sudden problem at school, and I told the teachers that I couldn't breathe. It felt like I was getting choked and my throat was shrinking. The teachers called my Mum at home and when she came to see me, they hushed the school children and told Mum that they had given me some homoeopathic medicines and I was feeling better and didn't even allow her to see me! After school, the children of my class asked my Mum,
“Does she have asthma? She was having a hard time at school today. She was having trouble breathing.”
Mum took me to a nursing home where a ‘bronchoscopy’ was done, and the doctor suspected that I had some sort of lung infection. He said the lungs were red and raw.
I was perhaps misdiagnosed because Dr Randeep Guleria in his radiological conferences inferred I must have had latent TB.
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 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 psychologist's treatment and put under dissociative drugs.
Under their 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. Recently
These hemangioblastomas were found in a routine neck ultrasound.
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.
Supratentorial HB is a rare and benign neoplasm. Very scarce literature is available regarding supratentorial HB. Supratentorial HB, which is quite rare, was first described by Bielschowsky in 1902.
Russell R Lonser, Gladys M Glenn, McClellan Walther, Emily Y Chew, Steven K Libutti, W Marston Linehan, Edward H Oldfield
They are most commonly found in the frontal lobe of the cerebrum followed by the parietal and temporal lobe. Mine was in the parietal lobe.
But the surgery was done by a doctor not aware of the facts and within 60 months I ended up with tumours scattered all over my brain.
http://www.ajnr.org/ajnr-case-collections-diagnosis/intraventricular-supratentorial-hemangioblastoma
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3408260/
I recall I came to 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 haemoglobin 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. But even now being half-blind I type with only one finger and have published 4 books and written about 91 blog posts starting from May 2020.
https://zebraspeaks.blogspot.com/
I had no idea I had an unstoppable syndrome.
Within a month of my craniotomy father had a massive heart attack.
Thankfully he survived and after a month in the hospital and losing twenty kilos he returned to us after staying in ventilation for 9 long days. I was fiercely glad. It felt like Dorothy's world in ‘The Wizard of Oz, my world went from black-and-white to colour. But those few days ended so quickly.
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 tumours 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 jewellery along with all belongings and every investment after retirement was broken but we didn't have enough money for the transplant. Therefore through the media, we did crowdfunding and got corporate funds along with loans from people and the bank.
I had a liver transplant owing to several tumours in the liver which could not be taken out individually causing excruciating pain due to frequent haemorrhages 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. There wasn't any awareness of rare disease back then, and therefore I had to suffer from the pain of haemorrhages and fentanyl patches were prescribed. The second time I had a haemorrhage I asked the attending doctor to either do the transplant or kill me by euthanasia. An X-ray of the intestines was done but thankfully blood had not spread to the intestines. The transplant which was delayed due to lack of money was preponed.
The necessity of immunosuppressants.
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 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.
How and why this happens depends on the particular drug. In general, however, the medication causes all or part of your immune system to “turn off” so that your body doesn’t go into attack mode, waging war against whatever it sees as a foreign invader.
Cyclosporine was my first immunosuppressant but I had a side-effect gingival hyperplasia and then I was put on Sirolimus as has anti-angiogenic properties. It worked wonderfully, keeping brain tumours at a minimum but the time when I was put on it, I was a trial patient because it was yet to be approved for a liver transplant. Then again time came for an incisional hernia repair which led to debridement. Sirolimus has a side-effect of slow wound healing so I was put on tacrolimus and mycophenolate mofetil as an add-on.
When ultimately tacrolimus was changed to Sirolimus I found out in routine MRI I got 2 new brain tumours. But mycophenolate mofetil remained as an add-on since 2016.
Steroids and anti-rejection medications target T-cells, which are lymphocytes that control the immune response.
Unfortunately, I get the side-effects subcapsular cataracts in both eyes.
Discussed in detail in Part 1 under orphan drugs.
My experience with infections
Soon after discharge I got viral infection varicella and was treated with Zovirax.
I am an MDR- TB survivor with pulmonary, lymph, and bone involvement.
Two years after liver transplant a lymph nodes biopsy showed TB infection(AFB+). More than 4 months of being on anti-Tb-treatment showed lung condition worsening.
HAIN test confirmed that the bacteria is resistant and I have MDR TB. MDR TB is a particular type of drug-resistant TB. It means that the TB bacteria that a person is infected with are resistant to two of the most important TB drugs, isoniazid (INH) and rifampicin (RMP). If bacteria are resistant to certain TB drugs this means that the drugs don’t work.
I stopped walking due to immense pain pelvis onwards and Dr Vineesh Mathur asked for an MRI which we couldn't afford as father left us penniless and homeless. We even had to wonder about how to arrange food the next day. On top of that being hounded by landlords, we changed 7 houses since 2009.
After my father passed away Poonam Gupta, student of Dr AC Ammini got in touch with me for research purposes.
I got an email from AIIMS
Next email
Unforeseen infections haunted me throughout my life increasing the cost of health maintenance.
The trigeminal nerve is also involved with the teeth and often sets in tooth pain so under the advice of my transplant hepatologist I visited the dentist under antibiotic coverage advised by Dr Sanjiv Saigal in 2019. But after returning I felt feverish and fever rose to 105 degrees and three lymph nodes in the neck stood out.
The Head and Neck surgeon Dr K. K Handa who did lymphadenopathy surgery advised an ice bath to bring the temperature immediately down and then he treated it with Augmentin 625. This way I have suffered many unknown fevers, and infection dealt with doctors who know her low immune system and the disease.
Cogito, ergo sum: I think, therefore I exist. I was only 3 years of age when the doctor with his son-in-law put me on auto-vaccines and his unfortunate treatment with cloxacillin made me resistant to plenty of antibiotics. All he had to do was diagnose a blood-filled tumour of von-Hippel Lindau.
This incident at a very tender age made me resistant to plenty of antibiotics.
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 cancer increases. By age 60, the risk may be as high as 70%.
After a few months of treatment including streptomycin injections, I got a surgical removal of lymphadenopathy which was still AFB+.
Then I was sent to Dr Randeep Guleria at AIIMS who changed the medicines to the highest degree antibiotics and the expensive drugs cured MDR-Tb but till this day I need a walking stick to walk and can't do most of the daily jobs for which I have to depend on her 69 years old mother.
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!
While my TB treatment was going on two very small tumours appeared in my brain. I was advised by Dr Ajaya Jha to get a cyberknife done before they grow and put pressure on the brain. I got it done accordingly with the help of a well-wisher by Dr Aditya Gupta but the MRI after 6 months showed leptomeningeal hemangioblastomas.
Hemangioblastomas of the CNS are solid or cystic vascular-rich tumours, most common in the cerebellum, less frequent in the brainstem or spinal cord and rare in supratentorial locations with meningeal involvement.
Bakshi et al3 described a 55-year-old patient with disseminated intradural masses involving almost the entire spinal cord on magnetic resonance imaging. They reported both extramedullary intradural tumours with numerous leptomeningeal nodules and microscopic infiltration of the spinal cord and coined the term leptomeningeal hemangioblastomatosis to define this condition.
Hemangioblastomas of the central nervous system are the most common tumours seen in patients with von Hippel-Lindau (VHL) disease.
Leptomeningeal dissemination of hemangioblastomas (HB) of the central nervous system (CNS) is extremely rare. Between 1902 and 2013, approximately 132 cases were reported.
Few studies have reported leptomeningeal involvement in sporadic HB or HB associated with von Hippel Lindau syndrome.
Detecting and treating the condition of leptomeningeal hemangioblastoma without delay seems to help survival, though the number of patients analyzed is small.
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.
A Ga-DOTANOC PET-CT based SSTR imaging because VHL syndrome associated hemangioblastomas frequently express SSTR
(Somatostatin Receptor)confirmed that the floating lights in the patient's brain are hemangioblastomas.
I spoke to Dr Randeep Singh, Medical oncologist. He was aware it can happen only a few years after a craniotomy.
Dr S. Hukku, chairman and Sr. Consultant at radiation oncology understood my problem and was aware of it.
They happen only after a craniotomy and are aggressive with very poor outcomes after dissemination and most patients died within a few months of diagnosis and surgery. I was told when I consulted in the USA. I went through various documents and it's true.
I get stereotactic radio-surgery/radiation therapy before the growing tumours start putting pressure on the brain and become symptomatic.
I have lost vision of my right eye for not being able to avail radiation therapy at the right time of the optico-hypothalamic tumour because of financial reasons and also because I was diagnosed with an RCC ( kidney cancer) at the same time.
The same year I had been diagnosed with kidney cancer for which I had to run around to various hospitals while there was H1N1 raging in Delhi. I couldn't agree with Dr N.P.Gupta to do a biopsy before taking the tumour out as it would cause seeding thereby metastasis. Ultimately Dr Sanjay Gogoi did a partial nephrectomy and saved me in time because the running around from hospital to hospital made me get a fever and cough which abated and I recovered after Dr Guleria's suggested the medicines. The tumour was 2.8 cms and I was almost near the 3 cm rule, hence the partial nephrectomy happened in the nick of time.
But there was a problem with the landlord as he tried eviction but we couldn't leave until recovery.
During my incisional hernia repair on 16th November 2016, I was smiling in the peaceful way possible.
Followed by debridement I needed expensive antibiotics injections.
On the 30th I was rushed to the surgery. Blood supply being cut-off for a long time skin died and the necrosis had to be removed before it became fatal.
OPD doctors didn't understand why the skin is black and on 24th November the doctor prescribed TBact telling he can't understand why it's spread. 29th November doctors understood due to a long-term lack of blood supply, the skin had died and it has to be removed. Dead tissue like dead tooth beckons microorganisms and in my case, there was a risk due to immunocompromised condition. To estimate the condition I was sent to the plastic surgeon who estimated its full-depth necrosis but thought he wouldn't be able to close the wound without graft and said " Everything is in God's hands".He told me after the surgery thankfully he just had one chance and made good use of it. So I had 2 surgeries back to back in the month of November within a span of 15 days in 2016. Surprisingly it was detected by a nurse who used to come daily for wound dressing and injections. He drew my attention to it wondering how it can be removed. I lost my belly button in the complex surgeries and my abdomen is scattered with scars of 4 surgeries. They remind me how I combated deadly, hazardous situations.
There is no harm in hoping for the best as long as you are prepared for the worst and I hope for the best!
Next, radiation therapy happened in 2017 for 2 growing tumours and causing pain and dizziness,
Sometimes tumours treated with radiation, on follow-up MRI imaging scans, appear stable without evidence of growth even mildly shrinking every time.
After the completion, I while reading a book to relax suddenly out of the blue something zapped across my right eye. The jolt of lightning appeared repeatedly. It lasted for a few seconds to a few minutes but it was difficult to keep my right eye open. This continued for the next few days but the pain was gone as abruptly as it appeared. I went to the neuro-ophthalmologist thinking about my optic nerve tumour but he said the optic nerve doesn't cause pain and it looks like trigeminal neuralgia and I should visit my neurologist immediately. He did his examination and said it was TN and asked for an MRI. I underwent an MRI scan the next day and it confirmed the diagnosis of trigeminal neuralgia...“ Thin vascular loop of SCA(superior cerebellar artery) abutting cranial aspect of the right trigeminal nerve at the root entry zone is noted.”
Despite the striking strength of this pain, TGN isn’t particularly well known although Mr Salman Khan had it and got treatment from Los Angeles. Most people never hear of it until they or a relative develop it.
Sometimes the pain comes out of nowhere with no trigger at all. While a classic attack is sudden and sharp and then gone altogether, sometimes a low-grade ache or burning pain will persist in its wake for an hour or more. In some patients, the constant aching, burning pain is their initial complaint.
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 tumour or multiple sclerosis. TN can usually be managed through medications, surgery or injections, or stereotactic radiosurgery.
The trigeminal nerves are responsible for the sensations of touch, temperature, and pain in most of the face. A separate branch of the trigeminal nerve also controls the muscles used in chewing.
The nerve fibres and the nerve itself are sheathed by a fatty, protective substance called myelin.
It's like in TN what happens is when a plugged-in electrical wire loses its insulation: When you touch with bare hands, they spark, short-circuit, and the wire stops working as it should. In TN, the damaged nerve fibres are like bare wires and light touch is the “movement” of the wire that sets off sparking and the short-circuiting.
The trigeminal nerves are responsible for almost all sensations from the forehead to the lower jaw, including heat, cold, pressure, touch, and, of course, pain. The right trigeminal nerve serves the entire right side of the face; the left one, the left side.
It is also known as"suicide disease” as a result of those who killed themselves to escape the pain.
I was initially put on medicine but it mostly didn’t contain the pain.
Medicines work on trial and error methods and changed frequently by doctors and dosages adjusted to see if it suits the needs. I was initially put on a cocktail of medicines from 2017-2019 but then I had fleeting jabbing pain which would fade away at the most in a few hours. Pulses of electricity travelled through my cheeks. Doctors upped and upped my dosage but I was not satisfied.
I had severe side effects. I went somewhere else for consultation on less invasive procedures like damaging the nerve fibres with a heated electrode known as Radio-frequency Lesioning where an electrode is inserted through the foramen ( hollow or opening inside the skull). Here I met Prof HariHara Dash who changed my medicines and confirmed my bilateral TN. My treating doctors were telling the haunting medical lore the melancholia of which was that Microvascular decompression (MVD) surgery is the only hope and while doing so they'd do a biopsy of my leptomeningeal hemangioblastomas not caring about the drastic and dramatic effect, not considering the highly vascular nature of the tumours ---that they are richly supplied with blood vessels. A biopsy would make them bleed resulting in a stroke, cell spillage, and bacterial meningitis.
I never knew how to cry because I was born without the vital emotion fear but when Trigeminal Neuralgia attacked me I learned to cry as the spontaneous facial pain that is predominantly constant and can be aching or burning in nature made it a tough battle for me every day.
Yet during this condition, I wrote for Sahitya Akademi, and 3 books
The last one was recently written and is available only on Kindle
Shedding tears and hugging my mother at night when the soul screamed out with the agony and howling in pain. I hugged my mother and muttered and cried as pain then came through loud and clear I had come across a doctor in the news who has a higher rate of success in treating TN by cyberknife and I need it to get rid of the fascinating pain.
But the length of time the nerve was compressed may be the most significant concern. Blood vessels that beat on nerves year after year may cause a chronic injury that not only changes the nature of a person's pain but also makes it harder to treat. In that sense, largely, TN is a progressive disorder.
Nerve injuries also may interfere with the brain's ability to send stop-pain signals. So once an attack begins, it may not stop until the nerve has used up its supply of ions biochemicals and is physically incapable of firing anymore and threshold levels that we know of vary from person to person and from time to time. That may explain why one person with a compressed blood vessel ends up with terrible TN pain while another person with a similar compression does not.
All my life I have kept looking for hope. I have undergone countless surgeries including cancer and a few life-threatening ones but I have never stopped hoping. Hope sustains us. I got this hope from Mumbai who said he could definitely treat me by cyberknife radiosurgery.
We returned on 18/3/2020 and from the 24th lockdown commenced. But the left side remains untreated.
Since then several problems started,
Difficulty speaking or loss of voice
Pain in the tongue
Voice becomes hoarse
Trouble swallowing food and medicines, I have to crush every medicine.
Trouble drinking liquids
Pain in the ear and behind it
Hear odd wheezing sound sometimes which feels like listening to my own breathing.
Unusual heart rate (I already take embetta xr 50 crushed)
Abnormal blood pressure
Problem with gait
Touching legs makes me fall, can't stand for long fall anyway
Nausea or vomiting
Abdominal bloating
A metallic sound in my ear.
They are increasing every day and more symptoms are getting added like back of the neck and head pain with burning in the right temple.
Despite suffering from all these I took the job of writing for Times of India digital to create awareness of rare diseases, promote organ donation and motivate people thinking about killing self to escape situations without honorarium. I also write inspiring poetry on life with the index finger of my right hand and partial vision.
https://timesofindia.indiatimes.com/blogs/author/payel/
After 2017 I also have a chronic ischemic brain. 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.
.https://wexnermedical.osu.edu/find-a-doctor/russell-lonser-md-47618
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 tumour but also the healthy tissue that the beam encounters on its way towards the tumour and beyond the tumour. 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 tumour 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 tumour.
Not to worsen the condition further, I sought the help of Dr Jalali
It may sound complicated, but having a VHL diagnosis shouldn’t consume a patient’s life. In fact, monitoring through routine screenings is one of the most important components of care for patients with the inherited condition, which puts them at an increased risk for developing tumors.
