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.
All people with VHL disease should be carefully followed by a physician or medical team familiar with the disorder.
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;
my MDR TB treatment-cured me of MDR TB which other doctors couldn't 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;
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
and trigeminal neuralgia-understood risks of MVD surgery on a leptomeningeal hemangioblastoma patient.
The complexity of their existence, the trials of maladies forced me to struggle to live.
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 on 7th May
Well, if you ask me, does Covid impact brain tumor treatment? I'd say yes because I got Covid myself.
The RT-PCR test was not done in my case because I have trouble swallowing food and medicines, Here I'd like to state 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).
Hence it might be extremely hurtful as I get pain in the pharynx and larynx and often my tongue gets paralyzed. The voice becomes hoarse after speaking a bit.
Both Naso and Oropharyngeal samples are collected. If there's a problem in the nasopharyngeal then it can be done in the Oropharyngeal sample only hence I got my CRP, D-Dimer, and antibody tested.
Blood tests at times are a good marker of inflammation and they can also give you and your doctor an idea of what is going on in your body, in particular, the C-reactive protein and the D dimer. Both of them are said to be a good testing ground for understanding what is happening in your body.
My disabled immune system had a little talk with the pathogen. Then I formed antibodies after a month and Jeevan Stambh NGO loaned me an oxygen concentrator.
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. I don't want to leave so early.
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.
They are most commonly found in the frontal lobe of the cerebrum followed by parietal and temporal lobe. Mine was in the parietal lobe.
Embolization was necessary before the prior surgery else all will end up like me.
I recall as I came back to consciousness in the OT during my craniotomy in 2006 and blood flowing out from under the head and the anaesthesiologist yelling I needed more blood because my hemoglobin was dropping. The doctor didn't take enough care and put me on the verge of uncertainty.
While I was pushed out of the OT in a trolley I was telling Mum there's no sense in the left side. My leg and hand were numb. I couldn't even make a fist. My recovery is always fast and with physiotherapy, I could squeeze a softball and slowly climb the stairs.
I had no idea it was unstoppable.
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.
Hemangioblastomas of the CNS are solid or cystic vascular-rich tumours, most common in the cerebellum, less frequent in the brain stem or spinal cord and rare in supratentorial locations with meningeal involvement.
Leptomeningeal dissemination of hemangioblastomas (HB) of the central nervous system (CNS) is extremely rare. Between 1902 and 2013, approximately 132 cases were reported. Few studies have reported leptomeningeal involvement in sporadic HB or in HB associated with von HippelLindau syndrome.
A Ga-DOTANOC PET-CT based SSTR imaging because VHL syndrome associated hemangioblastomas frequently express SSTR confirmed that the tumours in my brain are hemangioblastomas. With this, the true nature could be seen and the diagnosis was confirmed.
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.
Because no case of de novo development of disseminated HB without previous surgery has been reported, it is strongly suggested that the spillage and spread of tumour cells through the CSF space may be an origin of hemangioblastomatosis in patients with a genetic predisposition to the condition, Care should be taken to avoid tumour cell spillage during surgery.
These tumours are extremely vascular. A biopsy would make them bleed resulting in a stroke. After my first brain tumour surgery, done in 2006 I woke up with paralysis on the left side. After the craniotomy ( open brain surgery) I experienced total numbness in arms and hands and I couldn't close my fingers and make a fist. But this was sorted out by proper physiotherapy and exercise and she got back the control of my limbs but even now she doesn't have sensations in her fingertips.
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.
Leptomeningeal dissemination of hemangioblastomas (HB) of the central nervous system (CNS) is extremely rare. Between 1902 and 2013, approximately 132 cases were reported.
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.
D.r Jalali gave me an estimate of 40lakhs for both brain and spine. But when the pancreas came up he said he won't charge extra
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.
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.
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).
A HIF inhibitor is currently in clinical trials for VHL and metastatic kidney cancer. Due to our current understanding of HIF, there is reason to believe that this treatment may be effective in other forms of cancer, as well.
Von Hippel-Lindau disease is a genetic mutation characterized by tumors at any time throughout a patient’s lifetime in up to ten different areas, including the brain,spine,
kidneys, pancreas, adrenal gland, eyes and ears. Renal cell carcinoma is a leading cause of mortality for those with the VHL mutation, affecting approximately 40% of patients.
Von Hippel-Lindau (VHL) disease is an inherited autosomal dominant syndrome caused by a germline mutation and/or deletion of the VHL gene. Inappropriate hypoxia-inducible factor (HIF)-mediated transcription of proangiogenic and metabolic genes leads to the development of tumors and cysts in multiple organs. Surgery is a standard treatment for localized tumors with a risk of metastasis or organ dysfunction. Repeated surgeries cause substantial morbidity and have a major impact on quality of life. There is an urgent need to develop effective and safe systemic treatments for VHL disease manifestations. The small-molecule HIF 2 alpha inhibitor MK-6482 (belzutifan) has demonstrated significant efficacy in VHL disease related renal cell carcinomas, hemangioblastomas, and pancreatic neuroendocrine tumors while demonstrating an acceptable safety profile.
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.
Additionally, the medical field generally does not think in terms of outliers (“Zebras” – the analogy in the rare disease world). It is because of this deficiency that actively engaged and highly knowledgeable VHL patients are often forced to educate their medical team.
Life's been a jolly good joke on me,
And now is the time to laugh.
For a day and a half
I am a zebra, not a giraffe
In our vulnerability,
Looking Death in the eye
Don't make me breathe a sigh
Being grateful for every day
The brief but magnificent opportunity
Life grants
Life is but a momentary glimpse of the wonder of this astonishing universe
Not a dream or spiritual fantasy
I don't worry. I am not just struggling, I am a warrior. Worrying is a full-time job, requiring 24 hour work a day. Every day, you worry when you wake up, while at work, when you eat, even while you dream. Instead of a worrier woe-man, I chose to be a Warrior Princess, yes that's who I am.
It's worth trying to think more about how you can help the truly needy
Who hast zeal so speedy,
To those who suffer wrong
Left to their own devices are never weak but always strong
If I you'd druthers
No comments:
Post a Comment