RareDiseaseDayAwareness

 Everyone has the right to a standard of living adequate 

for the health and well- being of himself and of his 

family, including . . . medical care. . . .

 (Universal Declaration of Human Rights, 

United Nations 1948)

There are between 5,000 and 7,000 rare diseases and the number of patients suffering from them is estimated to be more than 50 million in the US and Europe. Before the orphan drug legislation enacted in the US in 1983, there was limited interest from the pharmaceutical industry to develop a treatment for very small patient groups, owing to the fact that similar levels of investment are needed from a pharmaceutical company to bring a drug to market for both small and large patient groups.

Over 300 million people are living with one or more of over 6,000 identified rare diseases around the world, each supported by family, friends, and a team of carers that make up the rare disease community.

Each rare disease may only affect a handful of people, scattered around the world, but taken together the number of people directly affected is equivalent to the population of the world’s third-largest country.

Rare diseases currently affect 3.5% - 5.9% of the worldwide population.

72% of rare diseases are genetic whilst others are the result of infections (bacterial or viral), allergies, and environmental causes, or are degenerative and proliferative.

70% of those genetic rare diseases start in childhood.

A disease is defined as rare in Europe when it affects fewer than 1 in 2,000 people.

~rarediseaseday.org.

I have a rare disease called VHL or Von-Hippel Lindau--this is a cancer-suppressing gene and those people who have VHL disease have a mutation, turning you into a tumor producing factory.

I don't think I have to explain mutation because the virus causing the pandemic is also composed of genetic material and it is mutating constantly.

In my case, blood-filled tumors form in up to 10 organs of the body.

The only treatment is the removal of tumors, irradiation, and monitoring but unfortunately, multiple tumors formed in the liver which compressed and displaced vital vessels and I had a liver transplant leading to turning off of the immune system.

What is an orphan drug?

"Orphan drugs" are medicinal products intended for diagnosis, prevention or treatment of life-threatening or very serious diseases or disorders that are rare.

An orphan drug is a pharmaceutical agent developed to treat medical conditions which, because they are so rare, would not be profitable to produce without government assistance. The conditions are referred to as orphan diseases.

Jan. 9, 2006 — The FDA has approved orphan drug status for mycophenolate mofetil (a bottle is very expensive in India and you can use it for 60 days then you have to throw it away)

Mycophenolate is approved by the FDA and other regulatory authorities worldwide for use in conjunction with cyclosporine( Neoral which I had to quit because of gingival hyperplasia) and corticosteroids which caused posterior subcapsular cataracts….

for the prophylaxis of organ rejection in adult patients receiving allogeneic renal, cardiac, or hepatic transplant. In some countries, it is also approved for use in pediatric kidney transplantation.

Liver transplantation is an important treatment option for selected patients with non-resectable multiple tumors.

When multiple tumors formed in the liver which compressed and displaced vital vessels and I had a liver transplant.

Sirolimus is a natural macrocyclic lactone(are products or chemical derivatives of soil microorganisms belonging to the genus Streptomyces)produced by the bacterium Streptomyces hygroscopicus, with immunosuppressant properties. In cells, sirolimus generates an immunosuppressive complex that binds to and inhibits the activation of the mammalian Target Of Rapamycin (mTOR), a key regulatory kinase( Kinase, an enzyme that adds phosphate groups (PO43−) to other molecules. A large number of kinases exist—the human genome contains at least 500 kinase-encoding genes.). This results in inhibition of T lymphocyte activation and proliferation that occurs in response to antigenic and cytokine (IL-2, IL-4, and IL-15) stimulation and inhibition of antibody production. 

Sirolimus can prevent angiogenesis by interfering with vascular endothelium growth factor (VEGF)‐mediated pathways in endothelial cells, thus limiting the growth of tumors,7 and also impacts established tumors, by inducing extensive microthrombi and so inhibiting tumor growth.

Vascular endothelial growth factor (VEGF) is a potent angiogenic factor and was first described as an essential growth factor for vascular endothelial cells. VEGF is up-regulated in many tumors and its contribution to tumor angiogenesis is well defined.

Sirolimus is produced by the bacterium Streptomyces hygroscopicus and was isolated for the first time in 1972 by Surendra Nath Sehgal and colleagues from samples of Streptomyces hygroscopicus found on Easter Island.[8][9] The compound was originally named rapamycin after the native name of the island, Rapa Nui. Sirolimus was initially developed as an antifungal agent. However, this use was abandoned when it was discovered to have potent immunosuppressive and antiproliferative properties.

In India, these drugs happen to be expensive and patients who run on a mere Rs 7000 income find it hard to arrange.

In the European Union (EU), rare diseases (RD) are officially defined as disorders affecting no more than 5 per 10,000 persons. These are life-threatening or chronically debilitating diseases with a low prevalence and a high level of complexity.

In India, patient organizations first became involved in Rare Disease Day in 2010. Most of the population are unaware and they are not treated with equality.

WE, THE PEOPLE OF INDIA, having solemnly resolved to constitute India into a SOVEREIGN SOCIALIST SECULAR DEMOCRATIC REPUBLIC and to secure to all its citizens

JUSTICE, social, economic, and political;

LIBERTY of thought, expression, belief, faith, and worship;

EQUALITY of status and of opportunity;

and to promote among them all FRATERNITY

assuring the dignity of the individual and the unity and integrity of the Nation.

We often hear about activists or common people fighting for their human rights. But what are these rights? And who gave us these rights? Why do people have to fight for their rights? 

Fundamental Rights are considered as basic human rights of all citizens, irrespective of their gender, caste, religion, or creed. etc. These sections are the vital elements of the constitution, which was developed between 1947 and 1949 by the Constitution of India.

India seeks social, economic, and political justice to ensure equality to its citizens.

Right to Equality ensures equal rights for all the citizens.

Equality means the absence of privileges or discrimination against any section of society. 

The Preamble provides for equality of status and opportunity to all the people of the country.

Then why is the government discriminating on the basis of disease, even a rare disease?

Article 21 says that no one shall be deprived of life and personal liberty. “Right to life” included the right to lead a healthy life so as to enjoy all faculties of the human body in their prime conditions.

Where's the equality here? Why is there a distinction between rare diseases? 

Our country doesn't follow the Constitution?

India is a secular federal republic governed in a democratic parliamentary system. The preamble of our Constitution states,

WE, THE PEOPLE OF INDIA, having solemnly resolved to constitute India into a SOVEREIGN SOCIALIST SECULAR DEMOCRATIC REPUBLIC and to secure to all its citizens

JUSTICE, social, economic and political;

LIBERTY of thought, expression, belief, faith and worship;

EQUALITY of status and of opportunity;

and to promote among them all FRATERNITY

assuring the dignity of the individual and the unity and integrity of the Nation.

India seeks social, economic and political justice to ensure equality to its citizens.

We often hear about activists or common people fighting for their human rights. But what are these rights? And who gave us these rights? Why do people have to fight for their rights? 

Fundamental Rights are considered as basic human rights of all citizens, irrespective of their gender, caste, religion or creed. etc. These sections are the vital elements of the constitution, which was developed between 1947 and 1949 by the Constitution of India.

India seeks social, economic and political justice to ensure equality to its citizens.

Right to Equality ensures equal rights for all the citizens.

Equality means the absence of privileges or discrimination against any section of society. 

The Preamble provides for equality of status and opportunity to all the people of the country.

Then why is the government discriminating on the basis of disease, even a rare disease?

Article 21 says that no one shall be deprived of life and personal liberty. “Right to life” included the right to lead a healthy life so as to enjoy all faculties of the human body in their prime conditions.

 Here I not only faced challenges in my childhood days because I never looked like I was sick, but I also looked cheerful, with big observant eyes filled with curiosity but everything was wrong internally. 

When the money-minded, relatives ditched us after my father perished, Mum with her neat and orderly mind kept her struggle with survival moving forward.

 The early years were toughest: we had no money and no idea what to eat the next day. The relations with a twisted mentality are still fighting and trying to swat me out of the way.

The challenge was thrown down our way has been quite an adventure, setbacks with hard work and luck involved.

Going down memory lane, how I survived so many surgeries including my landmark liver transplant, kidney cancer, MDR TB, and obviously fighting brain tumors more than folksies have lice on their head, is indeed a marvel, a wonder indicating God's intervention. As mountains rose on my way it couldn't startle and I didn't quiver with fear.

I live in a realm where with Mum's support I can move the mountains with determination and resolve.

I happened to get the rarest brain tumor in the world known as leptomeningeal hemangioblastomas. As per records from 1902-2013 only 132 cases have been reported globally and I may be the first case going for treatment in India.

Detecting and treating the condition of leptomeningeal hemangioblastoma without delay seems to help survival, though the number of patients analyzed is small. Patients may have other underlying health issues that may affect the data.

If you don't have enough knowledge you can't survive such nefarious tumors. 

Once you go for surgery the blood-filled tumors would bleed spreading tumor cells throughout the brain and spine and they, in turn, would travel with the fluid inside the brain which acts as a cushion for the brain. There's also a risk of bacterial meningitis due to the absence of an immune system.

I was told I have 3-6 months in 2013 after diagnosis... if I had gone for surgery but I was clever not to choose surgery.

I used radiation therapy for stopping the growth or mildly shrinking of the tumors.

I had 2 cyberknife and 2 radiation therapy.

 But the 2017 radiation therapy went wrong, my ' little grey cells' are working and I became an author, columnist with Times of India but my white matter was damaged.

As I was exposed to a lot of radiation in the brain, the consequences of which are white matter damage, I got chronic ischemic brain leading to Cerebral ischemia or brain ischemia, and when there isn’t enough blood flow to the brain leading to limited oxygen supply it may lead to the death of brain tissue, or ischemic stroke.

But another thing happened the nerves started getting damaged and then it is assumed that the dislodged have started traveling. 

My 5th nerve has been destroyed. 

Other nerves too look like they are on the path of destruction. We have 12 cranial nerves right inside the neck region. If the tumors in their journey travel to the nerve controlling the lungs or heart, I will take off from the world bidding adieu to all. 

These tumors are extremely vascular. A biopsy would make them bleed resulting in tumor cells spread a stroke.

Entrepreneur and author Melissa Seymour was diagnosed with TN in 2009 and underwent microvascular decompression surgery. It wasn’t successful and having contracted ‘Bacterial Meningitis’ in the hospital.

I have 3-6 months now to beat the nuisance tumors. I need your help.

I already have syncope along with sinus tachycardia.

The electrons can be made to strike a tungsten target within the head of the accelerator to create a beam of photons (or “X-rays”). These X-ray beams are then directed at the site of cancer. Photons have no charge or mass and can be regarded as small packets of energy. Photons deposit their energy along the entire path that they travel through the body. Therefore, a beam of X-rays irradiates not only the area of the tumor but also the healthy tissue that the beam encounters on its way towards the tumor and beyond the tumor. X-rays used for treating cancer usually do not stop within the body. X-rays travel right through you. On the other hand, proton beam therapy is delivered by larger, much more expensive accelerators called cyclotrons and synchrotrons.

A proton beam directed at a tumor travels in a straight trajectory towards its target, gives off most of its energy at a defined depth called the Bragg peak, and then stops. While X-rays often deposit more energy within the healthy tissues of the body than within the tumor.

I need 40 lakhs for the treatment. I assume you'd help me out. I live with Mum in a rented house. Already my medicines are very costly. I am not afraid of death. Life has to end once you are born but I think of my 68-year-old mother. After her first miscarriage during my birth, there were problems but she wanted me and for 41 years she has cared for me as nobody would. 

Animals care for their offspring for some time and teach them to eat, walk, how to get food or fly. But at one point in time, they leave them to make their way in life but that's why my mother is unique.

"An' why? Because...because I got you to look after me, and you got me to look after you, and that's why." -John Steinbeck

She has no one apart from me. She'll be shattered and I honestly worry about her. Only her care has kept me alive and now the hell will break loose and she won't be able to tolerate it...we have a great bonding... My appeal kindly contribute…

As Uncle Bill told our neighborhood Spidey "With great power comes great responsibility"

 Those with power fill up the ocean I need.