It's worth it even if you fail, Falling like a meteor forever blazing a trail

 I always felt mesmerized when I heard the lines "Mutation is the key to our evolution It has enabled us to evolve from a single-celled organism into the dominant species of the planet. The process is slow normally taking 1000 And 1000 of years. But every few hundred millennia evolution leaps forward"

I feel life is a joke you never knew a mutant X -men was roaming around everyone but who am I,Wolverine? A failed experiment of evolution?

 I was diagnosed with a rare disease von Hippel-Lindau or VHL. It is a genetic form of cancer. VHL patients battle a series of tumors throughout their life. VHL may occur in up to 10 organs of the body also there is a possibility of neuroendocrine tumors.

von Hippel Lindau (VHL) disease is a rare autosomal dominant disorder characterized by the presence of hemangioblastomas in the brain, spinal cord, and retina with associated involvement of the kidneys, liver, pancreas, and adrenals. The presence of pheochromocytoma in a patient with VHL poses a considerable challenge to the anesthesiologist. This is a report of a patient with VHL and underlying pheochromocytoma who underwent emergency craniotomy for excision of a cerebellar hemangioblastomas

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. Curing vHL brings us closer to curing many forms of cancer. 

Under normal conditions, the VHL gene controls the cell's oxygen-sensing mechanism, keeping cancerous tumours at bay. When the gene is missing or mutated, the body's tumour suppressor signalling does not function correctly. The tumours can be benign or cancerous and appear and grow unpredictably throughout a patient's life. 

Since VHL patients battle a series of tumors throughout their lives, they are an ideal population for studying tumor growth and identifying ways in which a patient’s lifestyle or environment may affect the progression of the disease.

And, while von Hippel-Lindau disease is rare, the VHL gene is involved in many other forms of cancer. The new database will include data from patients with several other rare forms of genetic cancer, and could ultimately influence the treatment of many other types of cancer including common forms.

VHL gene responsible for von Hippel Lindau syndrome. Controls major feeding pipeline of a cell. A mutation in the gene causes cells metabolism to change. Mutations in VHL are also part of the causes of other tumours such as breast, kidney, colon, pancreas etc. As a result, finding a cure for von Hippel Lindau is one step closer to finding cure for many other forms of cancer.

Esteemed researchers provided an understanding of how cells can sense and adapt to changing oxygen levels and how this results in cancer, such as in brain, bladder, breast, colon, ovarian, kidney, and pancreatic cancers.

When cells perceive a lack of oxygen (hypoxia), such as through a defect in the tumor suppressor gene (VHL), the transcription factor, HIF (Hypoxia-Inducible Factor), is not allowed to bind to the VHL protein. HIF is thus protected from degradation.

The accumulation of HIF results in the overexpression of various cellular growth factors (VEGF, PGDF) and a change in the ways cells utilize glucose and generate energy. These changes, in turn, lead to an over production of blood vessels, which ultimately leads to tumorigenesis. Understanding how to overcome the HIF accumulation and the cell’s perception of hypoxia, is key to preventing tumor development and growth.

The work of these three men, particularly Dr. Kaelin, has focused on the VHL gene. In Dr. Kaelin’s research is cause for optimism, not only for the 200,000 people suffering from VHL (von Hippel-Lindau disease) around the world, but also for those facing other cancer diagnoses.

VHL is a genetic form of cancer. VHL patients battle a series of tumors in up to 10 parts of the body throughout their lives. Tumors can develop in the brain, spine, retina, kidney, pancreas, adrenal gland, inner ear, reproductive tract, liver, and lung. Lack of timely intervention can often lead to morbidity and mortality.

As stated by Dr. Kaelin, “When you are studying about von Hippel-Lindau disease, you are not just studying about [the] …. disease … you are also now touching other diseases as well, where we can use the VHL gene to understand what is happening.” As such, the understanding of HIF involvement in tumorigenesis provides hope for the 40% of the world’s population who will be diagnosed with cancer at some point in their lives.

The VHL Alliance (VHLA, vhl.org) has been working for decades with cadres of research professionals and members of the medical community around the world to better understand the VHL gene and its impact on cancer development. The VHL Alliance funds research in numerous areas including work related to that of the newest Nobel Laureates.

Thanks to this research, the FDA has approved eight drugs for the treatment of kidney and breast cancers. These agents target the regulation of cellular growth factors (the downstream consequence of elevated HIF levels).

The mutation of the gene is confirmed in AIIMS research.

Unfortunately, multiple tumors formed in the liver which splayed, compressed, and displaced vital vessels and I had a liver transplant leading to turning off of the immune system. 

The side effect in question? These medications may increase your risk of infection. 

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, or end up with Covid like me.

Due to an unfortunate event, I contracted Covid, acquired the contagion.

The ingredient of life had a chat with my disabled  immune system 

There were multiple cysts in the pancreas already. They blocked the exocrine functions ( enzymes) and for a couple of months, I had to run to the bathroom after every meal. After Creon SD microgranules were prescribed my diarrhea feels better but you can confirm it is around Rs 3000 and lasts for only 2 days.

Pancreatic cancer is one of the most lethal malignancies in the world, with mortality rates being close to the incidence rates. The incidence rates of pancreatic cancer is 3%. Most patients with pancreatic cancer are diagnosed at the advanced stage due to the deficiency of a standard program for screening patients at a high risk of pancreatic cancer,leading to a poor prognosis with a 5-year survival rate of <7%. Therefore, it is very important to clarify the mechanisms of pancreatic cancer progression and develop novel therapeutic strategies to improve the overall survival of affected patients.

After getting 15 surgeries including radio surgeries I can't give up on living. With leptomeningeal hemangioblastomas and Covid with the immune system turned off due to liver transplant I am at a high risk but I love life and my mother.

My heart is an endless subterranean world pounding with desires to drink in the bliss called "Life"

Supratentorial HB is a rare and benign neoplasm. Very scarce literature is available regarding supratentorial HB. Supratentorial HB, which are quite rare, were first described by Bielschowsky in 1902.

All patients who underwent primary surgery for HB of the CNS. The median interval from initial surgery on HB of the CNS to identification of leptomeningeal dissemination was 96 months. I was diagnosed in 60months.

It is very rare approximately from 1902-2013 only 132 cases have been globally reported. I am not sure if anyone has the same tumors in India. From 2013 I had posted to EURORDIS and Rare disease and never found any.

 

Currently,I am suffering from a serious multiple brain tumor. Perhaps I am the first one in India. The small tumors floating around in the fluid used for cushioning the brain and spine tend to compress all the nerves that come their way. Hence the first nerve to be compressed was the optic hypothalamic nerve which made me blind with my right eye even after killing radiation therapy.

I got a swallowing problem. The cranial nerves associated with the swallowing process are the trigeminal (V), facial (VII), glossopharyngeal (IX), vagus (X), accessory (XI) - usually not considered - and hypoglossal (XII). 

After 2017 I also have a chronic ischemic brain. 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.

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.

Leptomeningeal dissemination of hemangioblastomas (HB) of the central nervous system (CNS) is extremely rare. Between 1902 and 2013, approximately 132 cases were reported.

Detecting and treating the condition of leptomeningeal hemangioblastoma without delay seems to help survival, though the number of patients analyzed is small. The most common cause of death is respiratory failure due to pontomedullary or cervical cord compression.

Early detection and aggressive management can enhance the prognosis of patients with CNS leptomeningeal dissemination of HBs. Imaging surveillance, by contrast-enhanced spinal or brain MRI, should be considered in patients with a large amount of tumor bleeding during the initial surgery.

I never had any delay in intellectual and physical development. I would have been 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 had got palsy and was treated with high-dose steroids the hand doesn't work like before and the left had 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 I can work out more books and encouraging posts for society if my compressed nerves are restored into functional mode.

I have no income. I write for Times of India digital without honorarium and my mother who is a pensioner draws barely enough pension to feed and clothe us, leave alone pay for my medical expenses. 

It's worth it even if you fail

Falling like a meteor forever blazing a trail

Princess decides how far she has come

The insurmountable she has overcome

Better be a meteor falling forever

Let not be forgotten forever and ever,

Better to flame the darkness with thy mother

Where roots of relationship are woven not strong

I will sing it loud and sing it strong

Let there be echo but who cares people decide if I was right or wrong