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!
A test of inner strength awaits as the pressure builds upon the nerves and various problems build-up which may exhaust my energy with the approach of the winter months and a certain bored feeling sets in let alone the loneliness.
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 and in the last one asked the doctor to get euthanasia done. Bleeding in the hemangioblastomas required hospitalization and was excruciatingly painful.
Certain medications are nothing short of miracles for the patients who need them. Medications such as anti-rejection drugs, chemotherapy, and corticosteroids are life-saving for many patients, but like many treatments, these pharmaceutical marvels come with side effects. And at least one of these side effects requires some potentially significant lifestyle adjustments.
The side effect in question? These medications may increase your risk of infection.
In other words, drugs like sirolimus, prednisolone, Cyclosporine, Mycophenolic, or tacrolimus jeopardize your immune system. They are immunosuppressant drugs.
Sounds alarming, but what does it even mean?
What does it mean if a drug is an immunosuppressant? I have come across people who have confused it with immunotherapy.
Whereas Immunotherapy is a type of cancer treatment that boosts the body’s natural defenses to fight cancer. It uses substances made by the body or in a laboratory to improve how your immune system works to find and destroy cancer cells.
It means 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.
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.
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 the flu or tuberculosis. Are you going to need to live in a bubble from here on out?
What are the side effects of immunosuppressants?
Fortunately, in most cases, an actual bubble won’t be necessary. Unless there's a pandemic going on and you are ill-fated that the army to protect you is disarmed. However, it is extremely important to understand the outcomes of living with a compromised immune system so you can protect yourself.
Side effects of immunosuppressant medications may include gastrointestinal problems like diarrhea, nausea, and vomiting. However, the most serious side effect of taking an immunosuppressant is the risk of infection.
That could mean catching every single bug your family member brings home from work or the very real possibility that a flu diagnosis will land you in the hospital. You are also more likely to experience complications from foodborne illnesses, bug bites, and environmental hazards (like mold). Oh, and you know all of those recent H1N1 outbreaks? You could be always at risk. Immunosuppressants also leave you at risk for very rare and difficult-to-treat infections, molds fungal pneumonia, and certain types of lymphoma.
Being diligent about basic hygiene procedures such as hand-washing is the only way out.
Everyone knows that hand-washing is the best thing you can do to avoid getting sick, but it is even more important for those who are immune-compromised and anyone who comes into contact with them.
Make sure to wash fruits and vegetables.
Avoid people who have active infections (don’t be shy about telling people to keep their distance, either).
You may need to wear a mask
at times (if you are on an airplane and people are coughing, for example), and it is also wise to avoid large crowds.
Staying up-to-date on all of your vaccinations is extremely important.
Adopt healthy lifestyle practices (get plenty of sleep, exercise, and eat a healthy diet).
If you think you might be sick or show any signs of infection, call your doctor immediately. The wait-and-see plan that applies to so many other people does not apply to the immunocompromised population. This is especially true with fevers.
If there is a high fever, they need to run to the emergency room so they can see a healthcare provider but I got a mysterious fever when I got to the emergency room of Medanta the medicity at 2 am in the morning because I was getting tetany and needed calcium drip.
Soon after discharge from the hospital after liver transplant, I got viral infection varicella and was treated with Zovirax...my experience of first viral infection.
It was my plight when I was diagnosed with an RCC H1N1 that was raging in Delhi and I had to commute to different hospitals because Medanta doctors wanted to do a needle biopsy before taking the tumor out. I would have gotten seeding that way and metastasis in the process would eventually have occurred. I traveled to different hospitals and got a cuckoo fever which wouldn't go. I couldn't get my blood tested for H1N1 and the clock was ticking because my RCC was 2.8 cms just a little below the threshold. The surgery was confirmed with Dr. Gogoi at FMRI but still, he said he can't perform surgery with an infection in the body.
By Divine will I thought of calling Dr. Randeep Guleria, he gave me some medicine over the phone and green cough syrup and I believe it's his experiences and expertise that I recovered and became ready for the surgery.
I always wore a mask when I went out. I carried and still did till before the lockdown a hand sanitizer in my handbag. You can never take enough precautions.
During the winter months, my brother came to spend time with us. He has a sinus problem and gets a cough and cold because of the weather change the whole winter, I had no sleep spending time coughing away.
The ultimate example of the risk of infection is getting MDR-Tb. I was losing more weight than the exercises I was doing and the food I was taking. I never had outside food but still, the doctors didn't think of that. Two years after the liver transplant I had a bewildering high fever which puzzled the doctors. After three months of continuous fever with a swollen lymph node made the physicians think. The 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 to Rifampicin, Isoniazid and ethambutol hence a change was implemented but it didn't work and I stopped walking due to immense pain pelvis onwards. Head and Neck surgeon, Dr. Handa removed the TB bacteria-infected lymph node, did surgery of lymphadenopathy.
Dr.Randeep Guleria of AIIMS changed the medicines to 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 and I can't climb stairs.
All the time I use tissues, to wipe my face, eyes, nose because I was advised not to use a handkerchief as if you fold it in and use the other side the infection will be back and I don't have the power to fight them. My faithful troops
have been disarmed or perhaps just turned off. I always wash my hands properly but in the freezing winters or when outside use hand sanitizer to control my infections.
I have the rarest brain tumors... Between 1902 and 2013, approximately 132 cases were reported. Few studies have reported leptomeningeal involvement in sporadic HB or in HB associated with von HippelLindau syndrome.
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 tumor 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 tumor cell spillage during surgery.
When another mass was illegally cultivated on top of the kidney, a Ga-DOTANOC PET-CT based SSTR imaging because VHL syndrome associated hemangioblastomas frequently express SSTR confirmed that the floating lights in the patient's brain are hemangioblastomas. With this, the true nature could be seen and the diagnosis was confirmed.
A biopsy isn't required for diagnosis as it may cause meningitis and blood loss thereby cell spillage.
A fellow remarked after he saw the picture of the scan of my brain tumors
" you have more tumors in the brain than people have lice in hair.''
There is no data on the competence of the surgeons and equipment used in the initial CNS surgery so trying to determine if cell spread was caused by any incompetence during my brain surgery (craniotomy) in 2006 would be extremely difficult if not impossible to prove beyond a reasonable doubt. The fact that the physiology of each tumor is different and the number of cases is so small means that an accurate comparison of surgeons is impossible.
I get stereotactic radio-surgery before the growing tumors 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 because of financial reasons and also because I was diagnosed with an RCC ( kidney cancer) at the same time.
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.
Despite the striking strength of this pain, TGN isn’t particularly well known. 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.
It was a warm October morning and I was in a merry mood having a good time because of the approaching Durga Pujas. I always try to make the most of the time with my mother. The season is very inviting and makes us happy and less anxious. I sat down with a book determined to enjoy it thoroughly but 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 tumor 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 TGN 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 the superior cerebellar artery (SCA) abutting cranial aspect of the right trigeminal nerve at the root entry zone is noted.”
If you experience these cataclysmic episodes, your life will change forever.
Branches of Trigeminal nerve
The mandibular branch( bottom) of the trigeminal nerve serves the
the lower jaw, including the lower teeth, lower lip, side and front of the tongue, lower gums.
part of the ear.
The middle or maxillary branch serves the
the upper jaw, upper teeth, and gums, upper lip,
cheeks
palate
sinuses
temples, and most of the nose.
The upper or ophthalmic branch serves
the forehead, eyes
bridge of the nose.
There can be some overlap, especially in the eye itself.
It is also known as"suicide disease” as a result of those who killed themselves to escape the pain.
I had a subtotal thyroidectomy from which emerged HypoPara.
Hypoparathyroidism is a rare endocrine condition in which insufficient or inactive levels of parathyroid hormone (PTH) are produced by the four tiny parathyroid glands in your neck.
It may be due to a congenital, genetic, or autoimmune disorder that affects the function of the parathyroid glands or, more commonly, it may occur as the temporary or permanent result of surgery to the neck where there is removal or damage to the glands.
Insufficient PTH leads to low calcium levels in the blood, or hypocalcaemia. It causes electrolyte imbalance and can be a life-threatening condition if untreated.
Why is calcium so important? Calcium is vital to life and affects every cell in the body. Most people know about teeth and nails in connection with calcium but its effects are on the whole body - nerves, muscles, and organs. It helps blood to clot and is important in energy production. Calcium is crucial to us which is why the body has special mechanisms like the parathyroid glands to keep calcium levels constant.
Treatment with vitamin D analogs and calcium supplements is not ideal and can lead to long term renal problems. Calcium levels fluctuate but home calcium testers are not available so monitoring this condition can be challenging. Until 2015, Hypopara was the only endocrine condition without its own replacement hormone. Injectable parathyroid hormone is now licensed for use in the treatment of hypopara in the USA but is not yet available elsewhere.
Recent problems are swallowing and tackling. I have lost weight up to 10 kgs and if I am forced to talk I get pain in my larynx area and my voice changes.
Everywhere there is a glimmer of hope. Hand-holding fantasies are not there in my life, rather everyone would like to swat me out of the way. Sometimes I feel the need for someone, not to take away or bear my pain but just to support and care about me. From my childhood journey to middle-age, I became a warrior but nobody stood by me. Life was much different for me, when I needed support from everyone, I rarely got support from anyone. Thanks to the internet and social media when I need support few people don't turn their faces. The rest peacefully ignore the agony of others. It includes friends, family, school teachers, everyone.
There's always a glimmer of hope. There is cancer, depression but everyone can get out of it. The glory and brightness of life! When you arise in the morning, think of what a precious privilege it is to be alive to breathe, to think, to enjoy being alive so please don't keep wringing your hands.
My mother is a different being altogether. Granny tranny used to make her do heavy chores when she was pregnant and she lost her first child due to the heavy work she was coerced to do. She worked too hard to bring me into the world. She cares for me
" I feel that living with multiple rare diseases with an overwhelming battle is my plight of my child, the journey with rare disorders. I believe perhaps surviving those ill-fated surgeries where the doctor gave a deadline or said " Everything is in God's hands" because she has a greater purpose in life. For that, to live this debilitating life more than it has been predicted. We need support from everyone, it's true we rarely get support. To stay true to our goals in life, we need true, honest, support."
