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.
The sooner any cancer can be correctly diagnosed, the better chances of a curative scenario for the person concerned. However, some cancers are in the ‘difficult to diagnose’ category. Certain types of Neuroendocrine Tumours (NETs) are in this difficult to diagnose category due to the vague symptoms which may be mistaken for other diseases and routine illnesses. However, in many cases which don’t seem to make the statistics, it can be incredibly quiet leading to incidental diagnosis including at an advanced stage. It’s sneaky!
Some of the most common misdiagnoses appear to be Irritable Bowel Syndrome (IBS), asthma, or menopause. Patients complain of abdominal pain, wheezing, shortness of breath, diarrhea, flushing, palpitations and a whole host of other minor issues. There are even extreme cases where patients have been told they may have a mental illness following constant visits to their local doctors. These cases can lead to months or in extreme cases, even years of delay from the onset of symptoms.
NETs are dangerous despite the normally indolent course but they have a propensity to metastasize meaning that the chance of a curative scenario is vastly decreased for many. It can kill if left untreated.
Neuroendocrine tumors (NETs) are highly vascularized, but the process of proliferation and maturation of vascular structures during tumor development and progression has remained unknown.
A Gallium 68-DOTA PET CT is a test used to check the body for the presence of neuroendocrine tumor cells. This test is done in the Nuclear Medicine Department. Improvements in the usage of more advanced diagnostic tools are needed to help achieve early detection of NETs. This advanced and more precise diagnostic tool has significantly lower usage vs more common diagnostic tools globally and locally. We need to spread the word among the medical community and make more awareness of NETs!
“Patients present in an almost surrealistic manner – a mix of tumor- related symptoms and signs, with bizarre and sometimes grotesque endocrine syndromes”
There is no cure available for neuroendocrine tumors available yet but as usual, there is treatment. The prognosis of the patient can be decided on the basis of stage and grade of cancer and certain other factors like age, the general condition of the patient. All these factors are looked at collectively to determine the prognosis of the tumor.
Brain metastases are rarely reported in patients with neuroendocrine carcinoma (NEC) of non-lung origin and neuroendocrine tumors (NETs) of the gastro-entero-pancreatic or bronchopulmonary system. Symptomatic brain metastases are associated with a dismal prognosis, so early detection and treatment could be advisable.
The incidence of brain metastases for neuroendocrine tumors (NET) is reportedly 1.5~5%, and the origin is usually pulmonary.
If brain metastases are present, lymph node metastases are found in 75% and liver metastases are found in 50% of these patients. Especially for functional NETs, because patients have specific symptoms when the tumor size is small. Somatostatin receptor scintigraphy (SRS) is useful to detect the primary focus.
NETs are well known for being heterogeneous. They can arise from a variety of different organs; can be benign or malignant; are well, moderately, or poorly differentiated, as in grade; have variable metastatic potential; and are either functional or nonfunctional (i.e., produce hormones and symptoms or do not) . Symptoms can markedly reduce quality of life and are an important consideration for therapy. NETs have a low incidence but a high prevalence given the lower mortality associated with these tumors.
Brain metastases are the most common intracranial neoplasm in adults. They often originate from lung cancer, breast cancer, or melanoma, but also other malignancies like renal cancer, colorectal cancer, and ovarian cancer are increasingly associated with brain metastases.
"Over the past two decades, SSTR-targeted imaging using radiolabeled somatostatin agonists followed by PRRT has been remarkably successful in managing neuroendocrine tumors," said Jingjing Zhang, MD, Ph.D., assistant professor in the Department of Diagnostic Radiology at the Yong Loo Lin School of Medicine at the National University of Singapore in Singapore. "However, potent SSTR antagonists—which only poorly internalize into tumor cells if at all—have surprisingly been shown to be even superior to agonists for such purposes."
To further investigate the role antagonists can play in treating neuroendocrine tumours researchers developed a study to determine the safety, bio distribution and efficiency of a new type of SSTR antagonist, 177Lu-DOTA-LM3. Fifty-one patients with progressive, heavily pretreated neuroendocrine neoplasms underwent PRRT with 177Lu-DOTA-LM3. Treatment-related adverse events were graded for all participants, and dosimetry was performed for patients.
177Lu-DOTA-LM3 was administered without severe adverse effects and was well tolerated by most patients.
Of note, the uptake and dosimetry( ”Dosimetry” refers to the science by which radiation dose is determined by measurement, calculation, or a combination of measurement and calculation. The technical name for radiation dose is “absorbed dose”; it is the amount of radiation energy that is deposited in tissue divided by the mass of the tissue. )of the antagonist 177Lu-DOTA-LM3 were compared with those of the commonly used SSTR agonist 177Lu-DOTATOC in patients undergoing treatment on the same dosimetry protocol. 177Lu-DOTA-LM3 demonstrated higher uptake and a longer effective half-life in tumor lesions, resulting in higher tumor radiation doses than for agonist 177Lu-DOTATOC.
The neuroendocrine system comprises a complex architecture of cells that are capable of producing NETs throughout the body. While NETs are known to develop throughout the gastrointestinal and respiratory tracts, there are only a few reports to suggest NETs originating primarily from the brain. NETs can be well-differentiated or poorly differentiated, and in the high grade poorly differentiated types, they can be large cell or small cell variants. The incidence of NETs has been prominently increasing over the past two decades. This is believed to be secondary to increased detection rates. Generally, the majority of NET metastases occur in the liver, lungs, and bone.Involvement of other sites is much rarer. NETs are considered to be the origin of brain metastases in 1.5-5% of all patients that.have brain metastases. If brain metastases are present, lymph node metastases are found in 75%, and.liver metastases are found in 50% of these patients. Primary unknown NET represents just 13% of these tumours.
NETs is secondary to systemic disease progression, the prognosis may be substantially different from metastatic brain NETs.Primary brain NETs appear to be more similar to non-metastaticNETs in which the ten-year overall survival rate is 47%
"These encouraging findings demonstrate the feasibility and superiority of SSTR antagonist 177Lu-DOTA-LM3 as compared to SSTR agonists. Furthermore, antagonist PRRT can be performed under concurrent treatment with somatostatin analogue without the need for interrupting these medications. This is especially important for patients suffering from carcinoid syndrome or even carcinoid crisis,". "The results are very encouraging for theranostic applications of SSTR antagonists to further improve outcomes in patients with neuroendocrine neoplasms in the future."
PRRT is an option for patients:
Benefits of PRRT include symptom relief, slowing tumor progression and improving overall survival.
The most common protocol includes a series of four PRRT treatments with 177Lu-DOTATATE spaced approximately 8 weeks apart. Local protocols may vary. This therapy may be done as an outpatient procedure or may require a hospital stay of a few days. In the United States, this treatment is performed as a half or full-day outpatient procedure and only in rare cases, a patient may need to stay overnight at the hospital.
Each PRRT session begins with anti-nausea pre-medications, followed by an amino acid solution. The amino acid solution is delivered intravenously to protect the patient’s kidneys from the effects of the treatment. The radioactive drug is then injected into the patient, which generally takes about 30 minutes, followed by administration of additional amino acid solution. In total, the treatment session lasts approximately four to five hours.
Post-treatment 177Lu scans may be taken during and following the treatment process to see where the injected radioactive drug has traveled in the body, although this scan is not required as part of the FDA label for treatment.
What are the advantages of PRRT?
PRRT and other molecular therapies offer more personalized cancer treatment. PRRT is targeted therapy because these radioactive drugs are highly selective in their ability to specifically reach and damage neuroendocrine tumor cells, while limiting radiation exposure to healthy tissue. As a result, PRRT is generally well tolerated.
PRRT is a treatment option that is highly effective in controlling advanced, metastatic or inoperable, progressive neuroendocrine tumors. PRRT is rarely curative but has been shown to help relieve symptoms, shrink tumors, and slow the progression of the disease.
PRRT with 177Lu-DOTATATE was FDA approved in 2018 for the treatment of gastroenteropancreatic neuroendocrine tumors. There are ongoing clinical trials featuring other radiopharmaceuticals, isotopes, peptides and combinations with other therapy.
What conditions are treated with PRRT?
PRRT is used to treat NETs,
Who have advanced (metastatic) and/or progressive (e.g. to SSA) neuroendocrine tumors positive on somatostatin receptor imaging (e.g. 68Ga-DOTATATE/NETSPOT or 64Cu Dotatate/Detecnet) which are radioactive tracers used with PET/CT or PET/MR machines.
Who are not candidates for surgery
Whose symptoms do not respond to other medical therapies.
Benefits of PRRT include symptom relief, slowing tumor progression and improving overall survival.
The administration of the PRRT itself is well tolerated, but patients may experience nausea and vomiting as a result of the amino acid solution given for kidney protection, especially with some types of amino acid solutions. This is managed with anti-nausea medication or slowing down the administration of the amino acids. Long-term side effects can include a suppression of blood cell counts, which is mild to moderate in the majority of cases. Delayed side effects, such as permanent kidney injury, or the appearance of secondary blood disorders (called myelodysplastic syndrome), are rare. Overall, the treatment is well tolerated by most patients.
Home Care
The medical facility will provide with all instructions for special care to be taken following treatment. Because small amounts of radiation temporarily remain in the body, patients need to follow the radiation safety protocol provided by your facility. This may include staying a safe distance from others for several days and careful hygiene following PRRT therapy. Because the radioactive drug is removed from the body mainly through the urine and feces, it is important to maintain good bathroom hygiene during this period.
Side Effects
The administration of the PRRT itself is well tolerated, but patients may experience nausea and vomiting as a result of the amino acid solution given for kidney protection, especially with some types of amino acid solutions. This is managed with anti-nausea medication or slowing down the administration of the amino acids. Long-term side effects can include a suppression of blood cell counts, which is mild to moderate in the majority of cases. Delayed side effects, such as permanent kidney injury, or the appearance of secondary blood disorders (called myelodysplastic syndrome), are rare. Overall, the treatment is well tolerated by most patients.
To note:
#LetsTalkAboutNETs #neuroendocrinecancer
My First PRRT
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!
