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 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.
My personal income never was more than Rs2000. Under current situation it is further reduced. I beg from Facebook acquaintances and some say " will send you in a few days" but that never happens
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.
These are useless ideas.
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.
- Books are written on Trigeminal Neuralgia by AIIMS doctors.
- Hypoparathyroidism is an uncommon disorder of calcium metabolism characterized by hypocalcemia, hyperphosphatemia, and reduced level of intact parathyroid hormone (iPTH).
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.
Patients with rare diseases like me received a misdiagnosis from multiple physicians. Ultimately was diagnosed during a liver transplant. Considering a bacterial infection Tuberculosis I was misdiagnosed and underwent treatment in vain for 2 years until proper medicines were given by Dr Randeep Guleria. History repeats and once again was misdiagnosed going around all hospitals in Delhi when Prof HariHara Dash confirmed bilateral TN. But due to this misdiagnosis I suffered pain in teeth and going to the dentist under antibiotic coverage got 105 F fever and 3 lymph nodes stood out in the chin. This delay in diagnosis adds to the costs of the disease incurred by my parents. Doctors need to know more about diseases like Trigeminal neuralgia and MDR TB.
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?
To improve the quality of life of patients with rare diseases, as follows:
- Subsidize patients by reducing the burden of medical expenses
- Provide information about rare diseases
- Help regional patients by reducing indirect expenses
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
- elongin binding protein
- pVHL
- VHL1
- VHL_HUMAN
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!
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