Story of my struggle with multiple rare diseases – Part 1

I am going for an unexplored technology for the treatment of my brain tumors about which you will find at the end of the post.

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.

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.

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.

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.

Steroids and anti-rejection medications target T-cells, which are lymphocytes that control the immune response.

The anti-rejection protocol generally is just a shot to your system to suppress everything. 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.

Yes, I was diagnosed with tuberculosis which was later found to be Multi-drug-resistant Tuberculosis.

Fun ingredient of life is not only you get bombs in your lungs wherein you gotta lie low hoping they won’t go off; they can be diffused by a squad with proper knowledge. Looking forth to sunshine so that the landmines (leptomeningeal hemangioblastomas) don’t blow me off with an utter BOOM!

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 after two hemorrhages.

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. This results in inhibition of T lymphocyte activation and proliferation that occurs in response to antigenic and cytokine stimulation and inhibition of antibody production. In short, the immune system is turned off.

Sirolimus can prevent angiogenesis by interfering with vascular endothelium growth factor (VEGF)-mediated pathways in endothelial cells, thus limiting the growth of tumors.

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. Sirolimus was initially developed as an antifungal agent. However, this use was abandoned when it was discovered to have potent immunosuppressive and antiproliferative properties.

I asked Dr.Sanjiv Saigal, “Why am I getting tumors despite taking Sirolimus?” His reply, “Because it is given at a lower dose only for a liver transplant.” But I shouldn’t try increasing my dose without his advice.

In India, these drugs happen to be expensive and patients who run on a mere Rs 7000 as Mum’s pension find it hard to arrange.

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

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.



Views expressed above are the author’s own.


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